#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
CAMTA1	23261	broad.mit.edu	37	1	7805028	7805029	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:7805028_7805029GG>TC	ENST00000303635.7	+	17	4523_4524	c.4316_4317GG>TC	c.(4315-4317)tGG>tTC	p.W1439F	CAMTA1_ENST00000476864.1_Missense_Mutation_p.W3F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.W1439F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.W1439F(1)|p.W1439L(1)|p.W1439C(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)		ACAATGAGCTGGCTGGCCAGTT	0.53			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					3	Substitution - Missense(3)		lung(3)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(4315-4317)TGG>TTG|c.(4315-4317)TGG>TGC		calmodulin-binding transcription activator 1																																				SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7805028G>T|g.chr1:7805029G>C	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	Exception_encountered	1.37:g.7805028_7805029delinsTC	ENSP00000306522:p.Trp1439Phe					CAMTA1_uc010nzv.1_Missense_Mutation_p.W526L|CAMTA1_uc001aok.3_Missense_Mutation_p.W482L|CAMTA1_uc001aoj.2_Missense_Mutation_p.W395L|CAMTA1_uc009vmf.2_Missense_Mutation_p.W43L|CAMTA1_uc010nzv.1_Missense_Mutation_p.W526C|CAMTA1_uc001aok.3_Missense_Mutation_p.W482C|CAMTA1_uc001aoj.2_Missense_Mutation_p.W395C|CAMTA1_uc009vmf.2_Missense_Mutation_p.W43C	p.W1439L|p.W1439C	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)	17	4523|4524	+	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)	1439					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4316G>T|c.4317G>C	CCDS30576.1																																																																																				PASS	0.530	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		14|12	38	12	38	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22846715	22846715	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:22846715A>C	ENST00000375647.4	+	14	3202	c.2995A>C	c.(2995-2997)Acc>Ccc	p.T999P	ZBTB40-IT1_ENST00000438551.1_RNA|ZBTB40_ENST00000374651.4_Missense_Mutation_p.T887P|ZBTB40_ENST00000404138.1_Missense_Mutation_p.T999P	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	999					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.T999P(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCACGTGGTGACCCACGTTGG	0.622																																						uc001bft.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2995-2997)ACC>CCC		zinc finger and BTB domain containing 40							95.0	74.0	81.0					1																	22846715		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22846715A>C	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2995A>C	1.37:g.22846715A>C	ENSP00000364798:p.Thr999Pro					ZBTB40_uc001bfu.2_Missense_Mutation_p.T999P|ZBTB40_uc009vqi.1_Missense_Mutation_p.T887P	p.T999P	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	15	3506	+		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)	999			C2H2-type 7.		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.2995A>C	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708690	0.68615	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.12984	2.63;2.63;2.63	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000033	T	0.45836	0.1362	M	0.90814	3.15	0.48452	D	0.999658	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.55263	-0.8168	10	0.72032	D	0.01	-20.5658	14.9429	0.71009	1.0:0.0:0.0:0.0	.	887;999	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	P	999;999;887	ENSP00000384527:T999P;ENSP00000364798:T999P;ENSP00000363782:T887P	ENSP00000363782:T887P	T	+	1	0	ZBTB40	22719302	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.934000	0.70138	2.208000	0.71279	0.459000	0.35465	ACC		PASS	0.622	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		7	34	7	34	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29651779	29651779	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:29651779G>T	ENST00000345512.3	+	30	4348	c.4219G>T	c.(4219-4221)Gac>Tac	p.D1407Y	PTPRU_ENST00000323874.8_Missense_Mutation_p.D1403Y|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1397Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1403Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1394Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1401Y	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1407	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1403Y(1)|p.D1401Y(1)|p.D1407Y(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAACTTGGTGGACGTTTTCTT	0.582																																						uc001bru.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(4219-4221)GAC>TAC		protein tyrosine phosphatase, receptor type, U							120.0	102.0	108.0					1																	29651779		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29651779G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4219G>T	1.37:g.29651779G>T	ENSP00000334941:p.Asp1407Tyr					PTPRU_uc001brv.2_Missense_Mutation_p.D1403Y|PTPRU_uc001brw.2_Missense_Mutation_p.D1397Y|PTPRU_uc009vtq.2_Missense_Mutation_p.D1401Y|PTPRU_uc009vtr.2_Missense_Mutation_p.D1394Y|PTPRU_uc001brx.2_Missense_Mutation_p.D133Y	p.D1407Y	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	30	4329	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1407			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.4219G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415150	0.83449	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	4.1	3.12	0.35913	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	T	0.50205	0.1602	M	0.89840	3.065	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	0.74674	0.973;0.973;0.973;0.984;0.984	T	0.60732	-0.7205	9	.	.	.	.	12.2585	0.54636	0.0:0.0:0.8303:0.1697	.	1394;1401;1397;1403;1407	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Y	1407;1397;1403;1403;1394;1401	ENSP00000334941:D1407Y;ENSP00000362884:D1397Y;ENSP00000349333:D1403Y;ENSP00000314987:D1403Y;ENSP00000392332:D1394Y;ENSP00000432906:D1401Y	.	D	+	1	0	PTPRU	29524366	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.792000	0.85828	2.097000	0.63578	0.561000	0.74099	GAC		PASS	0.582	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			27	57	27	57	---	---	---	---
ZBTB8A	653121	broad.mit.edu	37	1	33060763	33060763	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:33060763C>T	ENST00000373510.4	+	4	1161	c.932C>T	c.(931-933)cCa>cTa	p.P311L	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.P311L	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	311					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.P311L(1)		cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGGCCCTATCCATGTCAAGCT	0.438																																						uc001bvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CCA>CTA		zinc finger and BTB domain containing 8A							164.0	140.0	149.0					1																	33060763		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33060763C>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.932C>T	1.37:g.33060763C>T	ENSP00000362609:p.Pro311Leu					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.P311L	p.P311L	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			4	1417	+			311			C2H2-type 2.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.932C>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052195	0.55218	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.19105	2.17;2.17	5.43	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061054	0.64402	U	0.000003	T	0.24160	0.0585	N	0.16743	0.435	0.80722	D	1	P;B	0.49862	0.929;0.105	P;B	0.56216	0.794;0.25	T	0.03403	-1.1040	10	0.39692	T	0.17	-2.3232	13.6272	0.62173	0.0:0.9253:0.0:0.0747	.	311;311	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	L	311	ENSP00000362609:P311L;ENSP00000317561:P311L	ENSP00000317561:P311L	P	+	2	0	ZBTB8A	32833350	1.000000	0.71417	0.299000	0.25016	0.924000	0.55760	5.610000	0.67668	1.452000	0.47756	-0.244000	0.11960	CCA		PASS	0.438	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		23	70	23	70	---	---	---	---
ZBTB8OS	339487	broad.mit.edu	37	1	33099247	33099247	+	Splice_Site	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:33099247C>A	ENST00000468695.1	-	4	380	c.362G>T	c.(361-363)cGg>cTg	p.R121L	ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8OS_ENST00000373501.2_Splice_Site_p.R109L	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	109					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)	p.R121L(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTGCTTACCCGGGGTATGAA	0.328																																						uc001bvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CGG>CTG		zinc finger and BTB domain containing 8 opposite							48.0	52.0	51.0					1																	33099247		2203	4296	6499	SO:0001630	splice_region_variant	339487							g.chr1:33099247C>A	AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"""archease"""	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.363+1G>T	1.37:g.33099247C>A						ZBTB8OS_uc001bvo.1_Intron|ZBTB8OS_uc001bvq.2_Missense_Mutation_p.R109L	p.R121L	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN			4	381	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	109					Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Missense_Mutation	SNP	ENST00000468695.1	37	c.362G>T	CCDS365.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843132	0.91197	.	.	ENSG00000176261	ENST00000468695;ENST00000373501	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.84948	2.725	0.80722	D	1	D;P	0.56035	0.974;0.956	P;P	0.61477	0.889;0.668	T	0.80881	-0.1184	9	0.72032	D	0.01	-4.0793	11.9436	0.52915	0.0:0.9207:0.0:0.0793	.	109;121	Q8IWT0-2;A8K0B5	.;.	L	121;109	.	ENSP00000362600:R109L	R	-	2	0	ZBTB8OS	32871834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	2.699000	0.92147	0.655000	0.94253	CGG		PASS	0.328	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021669.3	NM_178547	Missense_Mutation	6	23	6	23	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39800752	39800752	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:39800752C>T	ENST00000372915.3	+	36	8594	c.8507C>T	c.(8506-8508)tCt>tTt	p.S2836F	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.S2831F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1271F|MACF1_ENST00000567887.1_Missense_Mutation_p.S2868F|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2836					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.S1271F(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)			GTGAGAGTTTCTGATGGGGAG	0.373																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3811-3813)TCT>TTT		microfilament and actin filament cross-linker							47.0	52.0	50.0					1																	39800752		2194	4298	6492	SO:0001583	missense	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.chr1:39800752C>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.8507C>T	1.37:g.39800752C>T	ENSP00000362006:p.Ser2836Phe					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.S1271F	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	3943	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2836					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3812C>T		.	.	.	.	.	.	.	.	.	.	C	3.976	-0.007381	0.07773	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.66280	-0.2;0.85	5.64	2.61	0.31194	.	0.865907	0.10087	N	0.717738	T	0.48502	0.1503	N	0.24115	0.695	0.09310	N	1	B	0.28850	0.225	B	0.31614	0.133	T	0.46190	-0.9209	10	0.87932	D	0	.	8.03	0.30459	0.0:0.6145:0.3014:0.0841	.	2836	Q9UPN3	MACF1_HUMAN	F	2836;1271	ENSP00000362006:S2836F;ENSP00000289893:S1271F	ENSP00000289893:S1271F	S	+	2	0	MACF1	39573339	0.000000	0.05858	0.009000	0.14445	0.965000	0.64279	0.105000	0.15333	0.681000	0.31386	0.591000	0.81541	TCT		PASS	0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	16	3	16	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39800780	39800780	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:39800780G>T	ENST00000372915.3	+	36	8622	c.8535G>T	c.(8533-8535)agG>agT	p.R2845S	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.R2840S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.R1280S|MACF1_ENST00000567887.1_Missense_Mutation_p.R2877S|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2845					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.R1280S(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)			AAAAGAGCAGGGAAATTTCCT	0.363																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3838-3840)AGG>AGT		microfilament and actin filament cross-linker							50.0	55.0	53.0					1																	39800780		2201	4297	6498	SO:0001583	missense	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.chr1:39800780G>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.8535G>T	1.37:g.39800780G>T	ENSP00000362006:p.Arg2845Ser					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.R1280S	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	3971	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2845					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3840G>T		.	.	.	.	.	.	.	.	.	.	G	0.100	-1.153967	0.01700	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.66280	-0.2;0.83	5.64	0.58	0.17402	.	0.712695	0.12808	N	0.437383	T	0.44307	0.1287	N	0.24115	0.695	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.30765	-0.9967	10	0.42905	T	0.14	.	8.2048	0.31446	0.4146:0.0:0.5854:0.0	.	2845	Q9UPN3	MACF1_HUMAN	S	2845;1280	ENSP00000362006:R2845S;ENSP00000289893:R1280S	ENSP00000289893:R1280S	R	+	3	2	MACF1	39573367	0.000000	0.05858	0.004000	0.12327	0.121000	0.20230	0.319000	0.19522	0.078000	0.16900	0.591000	0.81541	AGG		PASS	0.363	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	20	7	20	---	---	---	---
MPL	4352	broad.mit.edu	37	1	43804366	43804366	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:43804366G>A	ENST00000372470.3	+	3	408	c.366G>A	c.(364-366)caG>caA	p.Q122Q	MPL_ENST00000413998.2_Silent_p.Q122Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	122					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.Q122Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CTCGGACTCAGCGAGTCCTCT	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(364-366)CAG>CAA		myeloproliferative leukemia virus oncogene							103.0	93.0	97.0					1																	43804366		2203	4300	6503	SO:0001819	synonymous_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804366G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.366G>A	1.37:g.43804366G>A						MPL_uc001civ.2_Silent_p.Q122Q|MPL_uc009vwr.2_Silent_p.Q115Q	p.Q122Q	NM_005373	NP_005364	P40238	TPOR_HUMAN			3	411	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	122			Extracellular (Potential).		Q5JUZ0	Silent	SNP	ENST00000372470.3	37	c.366G>A	CCDS483.1																																																																																				PASS	0.572	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		14	44	14	44	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43898249	43898249	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:43898249T>G	ENST00000562955.1	+	37	5333	c.5333T>G	c.(5332-5334)aTc>aGc	p.I1778S	SZT2_ENST00000372442.1_Missense_Mutation_p.I936S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1835					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.I936S(2)|p.I1778S(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						GTCCCCCTCATCAGCCTGCCC	0.612																																						uc001cjk.1																			3	Substitution - Missense(3)		lung(3)		0						c.(2806-2808)ATC>AGC		hypothetical protein LOC23334							66.0	73.0	71.0					1																	43898249		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43898249T>G	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.5333T>G	1.37:g.43898249T>G	ENSP00000457168:p.Ile1778Ser						p.I936S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			23	3269	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1835					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2807T>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	7.862	0.726336	0.15439	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.52	-2.07	0.07276	.	1.188580	0.05815	N	0.614709	T	0.15825	0.0381	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	9	0.66056	D	0.02	.	9.5168	0.39111	0.1242:0.0:0.6346:0.2411	.	1778	Q5T011-5	.	S	936	.	ENSP00000361519:I936S	I	+	2	0	SZT2	43670836	0.001000	0.12720	0.034000	0.17996	0.838000	0.47535	-0.281000	0.08456	-0.271000	0.09272	0.533000	0.62120	ATC		PASS	0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		27	72	27	72	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67208762	67208762	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:67208762A>G	ENST00000371037.4	+	25	2548	c.2471A>G	c.(2470-2472)tAc>tGc	p.Y824C	SGIP1_ENST00000371035.3_Missense_Mutation_p.Y614C|SGIP1_ENST00000237247.6_Missense_Mutation_p.Y855C|SGIP1_ENST00000371039.1_Missense_Mutation_p.Y627C|SGIP1_ENST00000435165.2_Missense_Mutation_p.Y329C|SGIP1_ENST00000371036.3_Missense_Mutation_p.Y626C	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	824	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.Y824C(1)|p.Y627C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCAGGAAAATACTTGGCAGAT	0.328																																						uc001dcr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2470-2472)TAC>TGC		SH3-domain GRB2-like (endophilin) interacting							141.0	148.0	146.0					1																	67208762		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67208762A>G	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2471A>G	1.37:g.67208762A>G	ENSP00000360076:p.Tyr824Cys					SGIP1_uc010opd.1_Missense_Mutation_p.Y424C|SGIP1_uc001dcs.2_Missense_Mutation_p.Y424C|SGIP1_uc001dct.2_Missense_Mutation_p.Y426C|SGIP1_uc009wat.2_Missense_Mutation_p.Y618C|SGIP1_uc001dcu.2_Missense_Mutation_p.Y329C	p.Y824C	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			25	2688	+			824					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.2471A>G	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093494	0.76756	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.29	5.29	0.74685	Muniscin C-terminal mu homology domain (1);	0.212531	0.41823	D	0.000817	T	0.69296	0.3095	M	0.82716	2.605	0.80722	D	1	D;D;D;D;P	0.89917	0.993;1.0;1.0;1.0;0.786	D;D;D;D;P	0.91635	0.954;0.999;0.999;0.998;0.833	T	0.75997	-0.3120	10	0.87932	D	0	-0.0691	15.2159	0.73267	1.0:0.0:0.0:0.0	.	854;329;426;614;824	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	C	855;627;614;854;827;626;824;329	ENSP00000237247:Y855C;ENSP00000360078:Y627C;ENSP00000360074:Y614C;ENSP00000360075:Y626C;ENSP00000360076:Y824C;ENSP00000395525:Y329C	ENSP00000237247:Y855C	Y	+	2	0	SGIP1	66981350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.292000	0.89930	1.991000	0.58162	0.533000	0.62120	TAC		PASS	0.328	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		11	49	11	49	---	---	---	---
PTGER3	5733	broad.mit.edu	37	1	71440049	71440049	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:71440049T>C	ENST00000306666.5	-	3	1310	c.1100A>G	c.(1099-1101)tAt>tGt	p.Y367C	PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370931.3_Missense_Mutation_p.Y367C|PTGER3_ENST00000351052.5_Missense_Mutation_p.Y396C|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_Missense_Mutation_p.Y367C|PTGER3_ENST00000356595.4_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	367					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.Y367C(1)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	gctggatgcatagttgtttgt	0.438																																						uc001dfg.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(1099-1101)TAT>TGT		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						169.0	141.0	151.0					1																	71440049		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71440049T>C	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1100A>G	1.37:g.71440049T>C	ENSP00000302313:p.Tyr367Cys					PTGER3_uc001dfh.1_Intron|PTGER3_uc001dfi.1_Intron|PTGER3_uc001dfj.1_Intron|PTGER3_uc001dfk.1_Intron|PTGER3_uc001dfl.1_Intron|PTGER3_uc009wbm.1_Intron|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Intron|PTGER3_uc009wbn.1_Intron|PTGER3_uc009wbo.2_Missense_Mutation_p.Y367C|PTGER3_uc001dfo.2_Intron|PTGER3_uc001dfp.1_Missense_Mutation_p.Y367C	p.Y367C	NM_198714	NP_942007	P43115	PE2R3_HUMAN			3	1331	-			367			Cytoplasmic (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.1100A>G	CCDS657.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555197	0.27739	.	.	ENSG00000050628	ENST00000370931;ENST00000351052;ENST00000414819;ENST00000306666	T;T;T;T	0.18960	2.47;2.18;2.47;2.47	4.35	3.2	0.36748	.	.	.	.	.	T	0.03739	0.0106	N	0.03154	-0.405	0.26899	N	0.967144	P	0.51653	0.947	B	0.44044	0.439	T	0.19679	-1.0298	9	0.38643	T	0.18	.	8.1015	0.30859	0.0:0.0:0.205:0.795	.	367	P43115	PE2R3_HUMAN	C	367;396;367;367	ENSP00000359969:Y367C;ENSP00000280208:Y396C;ENSP00000401423:Y367C;ENSP00000302313:Y367C	ENSP00000302313:Y367C	Y	-	2	0	PTGER3	71212637	0.992000	0.36948	0.995000	0.50966	0.987000	0.75469	1.009000	0.29886	0.973000	0.38340	0.533000	0.62120	TAT		PASS	0.438	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		9	29	9	29	---	---	---	---
PTGER3	5733	broad.mit.edu	37	1	71440051	71440051	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:71440051G>T	ENST00000306666.5	-	3	1308	c.1098C>A	c.(1096-1098)aaC>aaA	p.N366K	PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370931.3_Missense_Mutation_p.N366K|PTGER3_ENST00000351052.5_Missense_Mutation_p.N395K|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_Missense_Mutation_p.N366K|PTGER3_ENST00000356595.4_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	366			N -> S (in dbSNP:rs13306014).		cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.N366K(1)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	tggatgcatagttgtttgtgt	0.428																																						uc001dfg.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(1096-1098)AAC>AAA		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						169.0	141.0	151.0					1																	71440051		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71440051G>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1098C>A	1.37:g.71440051G>T	ENSP00000302313:p.Asn366Lys					PTGER3_uc001dfh.1_Intron|PTGER3_uc001dfi.1_Intron|PTGER3_uc001dfj.1_Intron|PTGER3_uc001dfk.1_Intron|PTGER3_uc001dfl.1_Intron|PTGER3_uc009wbm.1_Intron|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Intron|PTGER3_uc009wbn.1_Intron|PTGER3_uc009wbo.2_Missense_Mutation_p.N366K|PTGER3_uc001dfo.2_Intron|PTGER3_uc001dfp.1_Missense_Mutation_p.N366K	p.N366K	NM_198714	NP_942007	P43115	PE2R3_HUMAN			3	1329	-			366			Cytoplasmic (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.1098C>A	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405842	0.42715	.	.	ENSG00000050628	ENST00000370931;ENST00000351052;ENST00000414819;ENST00000306666	T;T;T;T	0.16073	2.5;2.37;2.5;2.5	4.35	3.42	0.39159	.	.	.	.	.	T	0.04137	0.0115	L	0.29908	0.895	0.35982	D	0.836078	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	9	0.13470	T	0.59	.	10.3216	0.43769	0.0:0.1996:0.8004:0.0	.	366	P43115	PE2R3_HUMAN	K	366;395;366;366	ENSP00000359969:N366K;ENSP00000280208:N395K;ENSP00000401423:N366K;ENSP00000302313:N366K	ENSP00000302313:N366K	N	-	3	2	PTGER3	71212639	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.484000	0.35508	1.380000	0.46344	0.655000	0.94253	AAC		PASS	0.428	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		10	28	10	28	---	---	---	---
GIPC2	54810	broad.mit.edu	37	1	78560770	78560771	+	Nonsense_Mutation	DNP	GG	GG	TT	rs138753471		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:78560770_78560771GG>TT	ENST00000370759.3	+	3	754_755	c.561_562GG>TT	c.(559-564)aaGGag>aaTTag	p.187_188KE>N*	RNA5SP22_ENST00000365393.1_RNA	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	187	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E188*(1)|p.K187_E188>N*(1)|p.K187N(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						AATTAAAAAAGGAGGAACTCTT	0.386																																						uc001dik.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(1)	1						c.(559-561)AAG>AAT|c.(562-564)GAG>TAG		PDZ domain protein GIPC2																																				SO:0001587	stop_gained	54810					cytoplasm		g.chr1:78560770G>T|g.chr1:78560771G>T	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	Exception_encountered	1.37:g.78560770_78560771delinsTT	ENSP00000359795:p.K187_E188delinsN*						p.K187N|p.E188*	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN			3	751|752	+			187|188			PDZ.		Q8IYD3|Q9NXS7	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000370759.3	37	c.561G>T|c.562G>T	CCDS685.1																																																																																				PASS	0.386	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		14	48	14	48	---	---	---	---
WDR47	22911	broad.mit.edu	37	1	109524461	109524461	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:109524461C>A	ENST00000369962.3	-	13	2514	c.2292G>T	c.(2290-2292)tgG>tgT	p.W764C	WDR47_ENST00000400794.3_Missense_Mutation_p.W772C|WDR47_ENST00000361054.3_Missense_Mutation_p.W736C|WDR47_ENST00000369965.4_Missense_Mutation_p.W765C|WDR47_ENST00000357672.3_Missense_Mutation_p.W736C			O94967	WDR47_HUMAN	WD repeat domain 47	764					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.W765C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCCAGCCACTCCAGGTATAAA	0.378																																						uc001dwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2290-2292)TGG>TGT		WD repeat domain 47 isoform 3							101.0	101.0	101.0					1																	109524461		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109524461C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2292G>T	1.37:g.109524461C>A	ENSP00000358979:p.Trp764Cys					WDR47_uc001dwl.2_Missense_Mutation_p.W772C|WDR47_uc001dwi.2_Missense_Mutation_p.W765C|WDR47_uc010ovf.1_Missense_Mutation_p.W689C	p.W764C	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	13	2668	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	764			WD 4.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.2292G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274955	0.80580	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.4	5.4	0.78164	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	0.56717	0.2004	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.994;0.997;0.999;0.995	T	0.58858	-0.7562	10	0.38643	T	0.18	-21.2021	19.1641	0.93546	0.0:1.0:0.0:0.0	.	736;772;764;765	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	C	772;764;736;765;736	ENSP00000383599:W772C;ENSP00000358979:W764C;ENSP00000354339:W736C;ENSP00000358982:W765C;ENSP00000350301:W736C	ENSP00000350301:W736C	W	-	3	0	WDR47	109325984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.532000	0.85374	0.591000	0.81541	TGG		PASS	0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		18	40	18	40	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144881450	144881450	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:144881450T>C	ENST00000369354.3	-	25	3935	c.3746A>G	c.(3745-3747)gAg>gGg	p.E1249G	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1249G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1205G|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1386G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1386G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1249					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.E1249G(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGTATTTCTCCAGCTCGTT	0.418			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3745-3747)GAG>GGG		phosphodiesterase 4D interacting protein isoform							167.0	160.0	163.0					1																	144881450		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144881450T>C	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.3746A>G	1.37:g.144881450T>C	ENSP00000358360:p.Glu1249Gly					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1205G|PDE4DIP_uc001elv.3_Missense_Mutation_p.E256G	p.E1249G	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	25	4037	-			1249					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3746A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526682	0.85706	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01767	4.65;4.76;4.76;4.76;4.76	6.06	3.62	0.41486	.	.	.	.	.	T	0.02012	0.0063	L	0.54323	1.7	0.80722	D	1	P;D	0.57899	0.493;0.981	B;P	0.54759	0.203;0.76	T	0.55062	-0.8199	9	0.72032	D	0.01	.	7.3025	0.26428	0.0:0.0765:0.1443:0.7792	.	1205;1249	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	G	1205;1249;1249;1386;1386	ENSP00000327209:E1205G;ENSP00000358360:E1249G;ENSP00000358363:E1249G;ENSP00000435654:E1386G;ENSP00000358366:E1386G	ENSP00000327209:E1205G	E	-	2	0	PDE4DIP	143592807	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.195000	0.58400	1.103000	0.41568	0.533000	0.62120	GAG		PASS	0.418	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		33	192	33	192	---	---	---	---
RORC	6097	broad.mit.edu	37	1	151786031	151786031	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:151786031C>T	ENST00000318247.6	-	7	1106	c.999G>A	c.(997-999)gaG>gaA	p.E333E	RORC_ENST00000356728.6_Silent_p.E312E|RORC_ENST00000392697.3_Silent_p.E387E|RORC_ENST00000480719.1_5'UTR	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	333	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|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.E333E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTGGCGAACTCCACCACGT	0.612																																						uc001ezh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(997-999)GAG>GAA		RAR-related orphan receptor C isoform a							81.0	74.0	77.0					1																	151786031		2203	4300	6503	SO:0001819	synonymous_variant	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151786031C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.999G>A	1.37:g.151786031C>T						RORC_uc001ezg.2_Silent_p.E312E|RORC_uc010pdo.1_Silent_p.E387E|RORC_uc010pdp.1_Silent_p.E333E	p.E333E	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1107	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		333			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.999G>A	CCDS1004.1																																																																																				PASS	0.612	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			9	24	9	24	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157485497	157485497	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:157485497G>A	ENST00000361835.3	-	17	3059	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.L968L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	968					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.L968L(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)				GCCAAGAACAGGGATCCGGAA	0.577																																						uc001fqu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2902-2904)CTG>TTG		Fc receptor-like 5							174.0	192.0	186.0					1																	157485497		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157485497G>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.2902C>T	1.37:g.157485497G>A						FCRL5_uc009wsm.2_Silent_p.P964P	p.L968L	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			17	3060	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	968			Cytoplasmic (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2902C>T	CCDS1165.1																																																																																				PASS	0.577	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		30	104	30	104	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159166195	159166195	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:159166195C>T	ENST00000368125.4	+	6	890	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.R279C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	245	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R279C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCCCCATCCTCGTGAGGGCCA	0.517											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ftl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(733-735)CGT>TGT		cell adhesion molecule 3 isoform 2							199.0	133.0	155.0					1																	159166195		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159166195C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.733C>T	1.37:g.159166195C>T	ENSP00000357107:p.Arg245Cys		OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1799	CADM3_uc009wsy.1_Missense_Mutation_p.R199C|CADM3_uc001ftk.2_Missense_Mutation_p.R279C	p.R245C	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			6	875	+	all_hematologic(112;0.0429)		245			Ig-like C2-type 2.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.733C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687816	0.68271	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.13901	2.55;2.55;2.55	4.78	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.70487	0.969;0.953;0.942	T	0.40590	-0.9555	10	0.40728	T	0.16	.	13.1757	0.59626	0.0:1.0:0.0:0.0	.	199;245;279	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	C	279;245;199	ENSP00000357106:R279C;ENSP00000357107:R245C;ENSP00000387802:R199C	ENSP00000357106:R279C	R	+	1	0	CADM3	157432819	0.979000	0.34478	0.976000	0.42696	0.610000	0.37248	2.474000	0.45154	2.470000	0.83445	0.655000	0.94253	CGT		PASS	0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		6	12	6	12	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160784493	160784493	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:160784493C>T	ENST00000263285.6	+	4	1044	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y	LY9_ENST00000368041.2_Silent_p.Y298Y|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368037.5_Silent_p.Y338Y|LY9_ENST00000341032.4_Silent_p.Y338Y|LY9_ENST00000392203.4_Silent_p.Y338Y			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	338	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Y338Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCATGCCTACGTGTGCTCAG	0.587																																						uc001fwu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1012-1014)TAC>TAT		lymphocyte antigen 9 isoform a							53.0	50.0	51.0					1																	160784493		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784493C>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1014C>T	1.37:g.160784493C>T						LY9_uc010pjs.1_Silent_p.Y338Y|LY9_uc001fwv.2_Silent_p.Y338Y|LY9_uc001fww.2_Silent_p.Y338Y|LY9_uc001fwx.2_Silent_p.Y338Y|LY9_uc001fwy.1_Silent_p.Y240Y|LY9_uc001fwz.2_Translation_Start_Site	p.Y338Y	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	1064	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		338			Extracellular (Potential).|Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.1014C>T	CCDS30916.1																																																																																				PASS	0.587	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		6	19	6	19	---	---	---	---
MPZL1	9019	broad.mit.edu	37	1	167742573	167742573	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:167742573T>C	ENST00000359523.2	+	4	775	c.573T>C	c.(571-573)taT>taC	p.Y191Y	MPZL1_ENST00000474859.1_Silent_p.Y191Y|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	191					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.Y191Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CTGTCCTCTATAGAAGGAAAA	0.453																																						uc001geo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(571-573)TAT>TAC		myelin protein zero-like 1 isoform a							119.0	112.0	114.0					1																	167742573		2203	4300	6503	SO:0001819	synonymous_variant	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167742573T>C	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.573T>C	1.37:g.167742573T>C						MPZL1_uc001gen.3_Silent_p.Y191Y|MPZL1_uc001gep.2_Silent_p.Y191Y|MPZL1_uc001geq.2_Intron|MPZL1_uc009wvh.2_RNA	p.Y191Y	NM_003953	NP_003944	O95297	MPZL1_HUMAN			4	775	+	all_hematologic(923;0.215)		191			Cytoplasmic (Potential).		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Silent	SNP	ENST00000359523.2	37	c.573T>C	CCDS1264.1																																																																																				PASS	0.453	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		25	42	25	42	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175092743	175092743	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:175092743T>C	ENST00000239462.4	+	12	2971	c.2858T>C	c.(2857-2859)gTg>gCg	p.V953A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	953	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.V953A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGGTGCACGTGTGGGCCCAG	0.622																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2857-2859)GTG>GCG		tenascin N precursor							79.0	68.0	72.0					1																	175092743		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092743T>C	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2858T>C	1.37:g.175092743T>C	ENSP00000239462:p.Val953Ala						p.V953A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2971	+		Breast(1374;0.000962)	953			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2858T>C	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565182	0.65651	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.74002	-0.8	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215051	0.41500	D	0.000865	D	0.89086	0.6615	H	0.95645	3.7	0.41641	D	0.989079	D	0.64830	0.994	D	0.64506	0.926	D	0.92267	0.5822	10	0.87932	D	0	.	13.4516	0.61174	0.0:0.0:0.0:1.0	.	953	Q9UQP3	TENN_HUMAN	A	953;776	ENSP00000239462:V953A	ENSP00000239462:V953A	V	+	2	0	TNN	173359366	0.998000	0.40836	0.995000	0.50966	0.661000	0.39034	6.660000	0.74417	2.044000	0.60594	0.379000	0.24179	GTG		PASS	0.622	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		19	34	19	34	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175334287	175334287	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:175334287C>G	ENST00000367674.2	-	12	3154	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	TNR_ENST00000263525.2_Missense_Mutation_p.E816Q			Q92752	TENR_HUMAN	tenascin R	816	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E816Q(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)					TCCATCATCTCTTCCTCCTCA	0.532																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2446-2448)GAG>CAG		tenascin R precursor							126.0	116.0	119.0					1																	175334287		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334287C>G	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.2446G>C	1.37:g.175334287C>G	ENSP00000356646:p.Glu816Gln					TNR_uc009wwu.1_Missense_Mutation_p.E816Q	p.E816Q	NM_003285	NP_003276	Q92752	TENR_HUMAN			10	2527	-	Renal(580;0.146)		816			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2446G>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325818	0.41197	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.54675	0.56;0.56	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.344691	0.31847	N	0.006971	T	0.46560	0.1399	L	0.31476	0.935	0.36277	D	0.855554	B	0.26041	0.14	B	0.35182	0.197	T	0.52056	-0.8626	10	0.39692	T	0.17	.	14.1106	0.65120	0.0:0.928:0.0:0.072	.	816	Q92752	TENR_HUMAN	Q	816	ENSP00000356646:E816Q;ENSP00000263525:E816Q	ENSP00000263525:E816Q	E	-	1	0	TNR	173600910	1.000000	0.71417	0.990000	0.47175	0.277000	0.26821	5.614000	0.67695	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		10	46	10	46	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176738821	176738821	+	Missense_Mutation	SNP	G	G	T	rs371564283		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:176738821G>T	ENST00000367662.3	+	16	5566	c.4402G>T	c.(4402-4404)Gac>Tac	p.D1468Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1468	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.D1468Y(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						CGGTGTTCCCGACCCGTCTTT	0.507																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4402-4404)GAC>TAC		pappalysin 2 isoform 1							134.0	128.0	130.0					1																	176738821		1938	4145	6083	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738821G>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.4402G>T	1.37:g.176738821G>T	ENSP00000356634:p.Asp1468Tyr					PAPPA2_uc009www.2_RNA	p.D1468Y	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5566	+			1468			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4402G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613585	0.46631	.	.	ENSG00000116183	ENST00000367662	T	0.01871	4.59	6.17	5.21	0.72293	Complement control module (2);Sushi/SCR/CCP (2);	0.149712	0.64402	D	0.000018	T	0.11965	0.0291	M	0.77103	2.36	0.80722	D	1	D	0.64830	0.994	D	0.63381	0.914	T	0.00011	-1.2434	10	0.87932	D	0	-30.4627	16.7427	0.85464	0.0:0.129:0.871:0.0	.	1468	Q9BXP8	PAPP2_HUMAN	Y	1468	ENSP00000356634:D1468Y	ENSP00000356634:D1468Y	D	+	1	0	PAPPA2	175005444	1.000000	0.71417	0.384000	0.26145	0.039000	0.13416	4.892000	0.63193	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	44	21	44	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207647145	207647145	+	Splice_Site	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:207647145G>C	ENST00000367058.3	+	11	2167		c.e11-1		CR2_ENST00000367059.3_Splice_Site|CR2_ENST00000367057.3_Splice_Site|CR2_ENST00000458541.2_Splice_Site	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2						B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGCTTCTCCAGAAACATGCCA	0.453																																						uc001hfw.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.e11-1		complement component (3d/Epstein Barr virus)							129.0	131.0	130.0					1																	207647145		2203	4300	6503	SO:0001630	splice_region_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207647145G>C	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1979-1G>C	1.37:g.207647145G>C						CR2_uc001hfv.2_Splice_Site_p.E719_splice|CR2_uc009xch.2_Splice_Site_p.E660_splice	p.E660_splice	NM_001877	NP_001868	P20023	CR2_HUMAN			11	2073	+								C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Splice_Site	SNP	ENST00000367058.3	37	c.1979_splice	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260270	0.39995	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.66	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4242	0.44367	0.0894:0.0:0.9106:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR2	205713768	1.000000	0.71417	0.993000	0.49108	0.481000	0.33189	4.100000	0.57762	1.393000	0.46605	0.655000	0.94253	.		PASS	0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	Intron	28	55	28	55	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207696963	207696963	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:207696963T>C	ENST00000367049.4	+	5	495	c.495T>C	c.(493-495)ccT>ccC	p.P165P	CR1_ENST00000367052.1_Silent_p.P165P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.P165P|CR1_ENST00000367051.1_Intron|CR1_ENST00000367053.1_Silent_p.P165P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	165	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.P165P(1)|p.P170P(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						CAGGAATTCCTTGTGGGCTAC	0.398																																						uc001hfy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(493-495)CCT>CCC		complement receptor 1 isoform F precursor							76.0	67.0	70.0					1																	207696963		1833	4078	5911	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207696963T>C	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.495T>C	1.37:g.207696963T>C						CR1_uc009xcl.1_Silent_p.P165P|CR1_uc001hfx.2_Silent_p.P165P|CR1_uc009xcj.1_Silent_p.P165P|CR1_uc009xck.1_Silent_p.P165P	p.P165P	NM_000573	NP_000564	P17927	CR1_HUMAN			5	635	+			165			Extracellular (Potential).|Sushi 3.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.495T>C	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	3.789	-0.044106	0.07452	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.16	-1.28	0.09318	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.26503	-1.0101	4	.	.	.	.	3.3565	0.07171	0.1862:0.3702:0.0:0.4436	.	.	.	.	P	141	.	.	L	+	2	0	CR1	205763586	0.006000	0.16342	0.004000	0.12327	0.027000	0.11550	-0.374000	0.07484	-0.293000	0.08986	-0.627000	0.03993	CTT		PASS	0.398	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	24	4	24	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212180086	212180086	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:212180086C>T	ENST00000366994.3	-	7	878	c.774G>A	c.(772-774)caG>caA	p.Q258Q	INTS7_ENST00000440600.2_Silent_p.Q209Q|INTS7_ENST00000366993.3_Silent_p.Q258Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.Q258Q	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	258					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.Q258Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TCTTCAAATACTGCAACAGAA	0.338																																						uc001hiw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(772-774)CAG>CAA		integrator complex subunit 7							120.0	123.0	122.0					1																	212180086		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180086C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.774G>A	1.37:g.212180086C>T						INTS7_uc009xdb.1_Silent_p.Q258Q|INTS7_uc001hix.1_Silent_p.Q134Q|INTS7_uc001hiy.1_Silent_p.Q258Q|INTS7_uc010pta.1_Silent_p.Q209Q	p.Q258Q	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	7	879	-			258					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.774G>A	CCDS1501.1																																																																																				PASS	0.338	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		20	62	20	62	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215847809	215847809	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:215847809C>T	ENST00000307340.3	-	63	13830	c.13444G>A	c.(13444-13446)Gat>Aat	p.D4482N	USH2A_ENST00000366943.2_Missense_Mutation_p.D4482N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4482	Fibronectin type-III 30. {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.D4482N(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)		ATGGTTCCATCCCTCCTAAGT	0.453										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.(13444-13446)GAT>AAT		usherin isoform B							161.0	162.0	162.0					1																	215847809		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.chr1:215847809C>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.13444G>A	1.37:g.215847809C>T	ENSP00000305941:p.Asp4482Asn	HNSCC(13;0.011)					p.D4482N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13831	-			4482			Fibronectin type-III 30.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13444G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	9.680	1.149112	0.21288	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54675	1.05;0.56	4.41	2.52	0.30459	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.157757	0.28724	N	0.014347	T	0.40423	0.1116	L	0.29908	0.895	0.43025	D	0.994586	D	0.52996	0.957	P	0.47376	0.545	T	0.14671	-1.0464	10	0.12430	T	0.62	.	9.3153	0.37930	0.0:0.7617:0.0:0.2383	.	4482	O75445	USH2A_HUMAN	N	4482	ENSP00000305941:D4482N;ENSP00000355910:D4482N	ENSP00000305941:D4482N	D	-	1	0	USH2A	213914432	0.865000	0.29922	0.866000	0.34008	0.582000	0.36321	1.489000	0.35562	0.423000	0.26033	-0.363000	0.07495	GAT		PASS	0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		30	79	30	79	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216019303	216019303	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:216019303A>G	ENST00000307340.3	-	45	9304	c.8918T>C	c.(8917-8919)cTa>cCa	p.L2973P	USH2A_ENST00000366943.2_Missense_Mutation_p.L2973P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2973	Fibronectin type-III 16. {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.L2973P(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)		CAAGATTTTTAGAGAGTCGTT	0.408										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.(8917-8919)CTA>CCA		usherin isoform B							96.0	94.0	95.0					1																	216019303		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.chr1:216019303A>G	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.8918T>C	1.37:g.216019303A>G	ENSP00000305941:p.Leu2973Pro	HNSCC(13;0.011)					p.L2973P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	45	9305	-			2973			Fibronectin type-III 16.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8918T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507471	0.27036	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58797	0.31;0.31	5.63	3.17	0.36434	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.226096	0.22375	N	0.060896	T	0.71821	0.3385	M	0.74881	2.28	0.80722	D	1	D	0.61697	0.99	D	0.64877	0.93	T	0.73487	-0.3967	10	0.52906	T	0.07	.	12.3972	0.55391	0.7183:0.2817:0.0:0.0	.	2973	O75445	USH2A_HUMAN	P	2973	ENSP00000305941:L2973P;ENSP00000355910:L2973P	ENSP00000305941:L2973P	L	-	2	0	USH2A	214085926	0.991000	0.36638	0.796000	0.32109	0.577000	0.36160	3.129000	0.50500	0.946000	0.37632	0.533000	0.62120	CTA		PASS	0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	31	9	31	---	---	---	---
RHOU	58480	broad.mit.edu	37	1	228879123	228879123	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:228879123A>T	ENST00000366691.3	+	3	1079	c.413A>T	c.(412-414)aAc>aTc	p.N138I		NM_021205.5	NP_067028.1			ras homolog family member U									p.N138I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TCCTTCCAGAACGTCAGTGAG	0.522																																						uc001htf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)AAC>ATC		ras homolog gene family, member U							172.0	166.0	168.0					1																	228879123		2203	4300	6503	SO:0001583	missense	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228879123A>T		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.413A>T	1.37:g.228879123A>T	ENSP00000355652:p.Asn138Ile						p.N138I	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN			3	1034	+	Breast(184;0.162)	Prostate(94;0.183)	138						Missense_Mutation	SNP	ENST00000366691.3	37	c.413A>T	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123960	0.77436	.	.	ENSG00000116574	ENST00000366691	T	0.78924	-1.22	4.73	4.73	0.59995	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	H	0.98238	4.18	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.94025	0.7296	10	0.87932	D	0	.	12.186	0.54239	1.0:0.0:0.0:0.0	.	138	Q7L0Q8	RHOU_HUMAN	I	138	ENSP00000355652:N138I	ENSP00000355652:N138I	N	+	2	0	RHOU	226945746	1.000000	0.71417	0.868000	0.34077	0.757000	0.42996	7.254000	0.78329	1.973000	0.57446	0.533000	0.62120	AAC		PASS	0.522	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		15	92	15	92	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229596517	229596517	+	Splice_Site	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:229596517C>G	ENST00000261396.3	-	20	2777		c.e20-1		NUP133_ENST00000537506.1_Splice_Site	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						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)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.?(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGAAAAATTCTACAAATAAC	0.328																																						uc001htn.2																			1	Unknown(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.e20-1		nucleoporin 133kDa							38.0	39.0	39.0					1																	229596517		2201	4300	6501	SO:0001630	splice_region_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229596517C>G		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2686-1G>C	1.37:g.229596517C>G							p.N896_splice	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			20	2778	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)						B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Splice_Site	SNP	ENST00000261396.3	37	c.2686_splice	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993249	0.54041	.	.	ENSG00000069248	ENST00000261396;ENST00000537506	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8603	0.86016	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP133	227663140	1.000000	0.71417	0.994000	0.49952	0.481000	0.33189	7.035000	0.76517	2.477000	0.83638	0.563000	0.77884	.		PASS	0.328	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	Intron	3	32	3	32	---	---	---	---
SLC35F3	148641	broad.mit.edu	37	1	234367239	234367239	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:234367239G>A	ENST00000366617.3	+	2	381	c.153G>A	c.(151-153)gcG>gcA	p.A51A	SLC35F3_ENST00000366618.3_Silent_p.A120A			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	51					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.A120A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCGGGAGAGCGAGTCGCCGCT	0.741																																						uc001hwa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(151-153)GCG>GCA		solute carrier family 35, member F3							46.0	42.0	43.0					1																	234367239		2203	4299	6502	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234367239G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.153G>A	1.37:g.234367239G>A						SLC35F3_uc001hvy.1_Silent_p.A120A	p.A51A	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	381	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	51					Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37	c.153G>A																																																																																					PASS	0.741	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		6	19	6	19	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247587806	247587806	+	Missense_Mutation	SNP	C	C	A	rs121908149		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:247587806C>A	ENST00000336119.3	+	3	1807	c.1061C>A	c.(1060-1062)gCc>gAc	p.A354D	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.A354D|NLRP3_ENST00000391827.2_Missense_Mutation_p.A354D|NLRP3_ENST00000366497.2_Missense_Mutation_p.A354D|NLRP3_ENST00000391828.3_Missense_Mutation_p.A354D|NLRP3_ENST00000366496.2_Missense_Mutation_p.A354D	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	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		A -> V (in MWS). {ECO:0000269|PubMed:11687797}.		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.A354D(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)			AGACCTGTGGCCCTGGAGAAA	0.557																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	GRCh37	CM013247	NLRP3	M	rs121908149	c.(1060-1062)GCC>GAC		NLR family, pyrin domain containing 3 isoform a							58.0	61.0	60.0					1																	247587806		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.chr1:247587806C>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.1061C>A	1.37:g.247587806C>A	ENSP00000337383:p.Ala354Asp					NLRP3_uc001ics.2_Missense_Mutation_p.A354D|NLRP3_uc001icu.2_Missense_Mutation_p.A354D|NLRP3_uc001icw.2_Missense_Mutation_p.A354D|NLRP3_uc001icv.2_Missense_Mutation_p.A354D|NLRP3_uc010pyw.1_Missense_Mutation_p.A352D|NLRP3_uc001ict.1_Missense_Mutation_p.A352D	p.A354D	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1199	+	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)	354		A -> V (in MWS).	NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1061C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017004	0.75161	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.51477	D	0.000089	D	0.89188	0.6644	M	0.86178	2.8	0.53005	D	0.999961	D;D;D;D;D	0.89917	0.999;0.989;1.0;0.969;0.975	D;P;D;D;D	0.78314	0.984;0.858;0.991;0.918;0.944	D	0.90220	0.4271	10	0.87932	D	0	.	11.5521	0.50726	0.0:1.0:0.0:0.0	.	354;354;354;354;354	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	D	354	ENSP00000375704:A354D;ENSP00000355453:A354D;ENSP00000337383:A354D;ENSP00000294752:A354D;ENSP00000355452:A354D;ENSP00000375703:A354D	ENSP00000337383:A354D	A	+	2	0	NLRP3	245654429	1.000000	0.71417	0.949000	0.38748	0.980000	0.70556	4.904000	0.63279	2.436000	0.82500	0.563000	0.77884	GCC		PASS	0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		19	40	19	40	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978807	247978807	+	Silent	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr1:247978807C>A	ENST00000357627.1	-	1	224	c.225G>T	c.(223-225)acG>acT	p.T75T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T75T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ATTTGGGAGCCGTGACTGAAA	0.418																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)ACG>ACT		olfactory receptor, family 14, subfamily A,							80.0	82.0	81.0					1																	247978807		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978807C>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.225G>T	1.37:g.247978807C>A							p.T75T	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	225	-			75			Extracellular (Potential).		Q6IF96	Silent	SNP	ENST00000357627.1	37	c.225G>T	CCDS31097.1																																																																																				PASS	0.418	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		7	28	7	28	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1488614	1488614	+	Missense_Mutation	SNP	T	T	G	rs386642298|rs114401108	byFrequency	TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:1488614T>G	ENST00000345913.4	+	9	1676	c.1585T>G	c.(1585-1587)Tta>Gta	p.L529V	TPO_ENST00000349624.3_Missense_Mutation_p.L356V|TPO_ENST00000382198.1_Missense_Mutation_p.L356V|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.L529V|TPO_ENST00000346956.3_Missense_Mutation_p.L529V|TPO_ENST00000329066.4_Missense_Mutation_p.L529V|TPO_ENST00000382201.3_Missense_Mutation_p.L529V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	529					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.L529V(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCATGGACATTACTCCGTGG	0.532																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1585-1587)TTA>GTA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						39.0	43.0	42.0					2																	1488614		2203	4299	6502	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488614T>G		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1585T>G	2.37:g.1488614T>G	ENSP00000318820:p.Leu529Val					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.L529V|TPO_uc002qwr.2_Missense_Mutation_p.L529V|TPO_uc002qwx.2_Missense_Mutation_p.L529V|TPO_uc010yio.1_Missense_Mutation_p.L356V|TPO_uc010yip.1_Missense_Mutation_p.L529V|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.L529V	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1676	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	529			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1585T>G	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.007|0.007	-1.963854|-1.963854	0.00461|0.00461	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.74209	.|-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.3|5.3	0.919|0.919	0.19392|0.19392	.|.	.|0.579975	.|0.19246	.|N	.|0.119047	T|T	0.56673|0.56673	0.2001|0.2001	L|L	0.37507|0.37507	1.11|1.11	0.80722|0.80722	D|D	1|1	.|P;P;B;P	.|0.40230	.|0.545;0.708;0.36;0.6	.|B;B;B;B	.|0.40534	.|0.209;0.332;0.161;0.314	T|T	0.49143|0.49143	-0.8970|-0.8970	5|10	.|0.10111	.|T	.|0.7	-25.2768|-25.2768	4.6107|4.6107	0.12401|0.12401	0.3237:0.3915:0.2186:0.0662|0.3237:0.3915:0.2186:0.0662	.|.	.|529;356;529;529	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	Q|V	60|529;529;529;356;529;529;356;458;60	.|ENSP00000337263:L529V;ENSP00000318820:L529V;ENSP00000263886:L529V;ENSP00000332044:L356V;ENSP00000329869:L529V;ENSP00000371636:L529V;ENSP00000371633:L356V;ENSP00000405788:L458V;ENSP00000419461:L60V	.|ENSP00000329869:L529V	H|L	+|+	3|1	2|2	TPO|TPO	1467621|1467621	0.988000|0.988000	0.35896|0.35896	0.016000|0.016000	0.15963|0.15963	0.001000|0.001000	0.01503|0.01503	0.326000|0.326000	0.19646|0.19646	0.212000|0.212000	0.20703|0.20703	-0.224000|-0.224000	0.12420|0.12420	CAT|TTA		PASS	0.532	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		8	32	8	32	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25464474	25464474	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:25464474T>C	ENST00000264709.3	-	17	2376	c.2039A>G	c.(2038-2040)aAg>aGg	p.K680R	DNMT3A_ENST00000380746.4_Missense_Mutation_p.K491R|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K457R|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.K680R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	680	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.K680R(1)|p.K491R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACATGATCTTCCCCTGGTG	0.617			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2038-2040)AAG>AGG		DNA cytosine methyltransferase 3 alpha isoform							145.0	95.0	112.0					2																	25464474		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25464474T>C		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2039A>G	2.37:g.25464474T>C	ENSP00000264709:p.Lys680Arg					DNMT3A_uc002rgd.2_Missense_Mutation_p.K680R|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.K491R	p.K680R	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			17	2296	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		680					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2039A>G	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964672	0.34659	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.13	5.44	5.44	0.79542	.	0.049639	0.85682	D	0.000000	D	0.83830	0.5339	N	0.13327	0.33	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.14023	0.003;0.01	T	0.78924	-0.2012	10	0.12766	T	0.61	-14.0597	14.3204	0.66482	0.0:0.0:0.0:1.0	.	680;491	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	R	491;680;680;457	ENSP00000370122:K491R;ENSP00000324375:K680R;ENSP00000264709:K680R;ENSP00000384237:K457R	ENSP00000264709:K680R	K	-	2	0	DNMT3A	25317978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.758000	0.68776	2.076000	0.62316	0.454000	0.30748	AAG		PASS	0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		7	19	7	19	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60687659	60687659	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:60687659C>T	ENST00000335712.6	-	4	2615	c.2388G>A	c.(2386-2388)ggG>ggA	p.G796G	BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.G762G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	796					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.G796G(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AAACGTCCTTCCCCACCTGGC	0.478			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2386-2388)GGG>GGA		B-cell CLL/lymphoma 11A isoform 1							124.0	120.0	121.0					2																	60687659		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687659C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2388G>A	2.37:g.60687659C>T						BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Silent_p.G644G|BCL11A_uc002saf.1_Silent_p.G762G	p.G796G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2616	-			796					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2388G>A	CCDS1862.1																																																																																				PASS	0.478	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		16	185	16	185	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116534843	116534843	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:116534843G>C	ENST00000410059.1	+	14	1761	c.1281G>C	c.(1279-1281)aaG>aaC	p.K427N	DPP10_ENST00000409163.1_Missense_Mutation_p.K377N|DPP10_ENST00000393147.2_Missense_Mutation_p.K431N|DPP10_ENST00000310323.8_Missense_Mutation_p.K420N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	427						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.K420N(1)|p.K427N(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						AAGTGATAAAGATCTTGGCAT	0.358																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1279-1281)AAG>AAC		dipeptidyl peptidase 10 isoform long							119.0	114.0	116.0					2																	116534843		2203	4299	6502	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534843G>C	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.1281G>C	2.37:g.116534843G>C	ENSP00000386565:p.Lys427Asn					DPP10_uc002tlb.1_Missense_Mutation_p.K377N|DPP10_uc002tlc.1_Missense_Mutation_p.K423N|DPP10_uc002tle.2_Missense_Mutation_p.K431N|DPP10_uc002tlf.1_Missense_Mutation_p.K420N	p.K427N	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			14	1738	+			427			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1281G>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659285	0.67586	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.97	3.17	0.36434	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.160378	0.53938	D	0.000047	T	0.34164	0.0888	L	0.43554	1.36	0.41863	D	0.990236	P;P;P;P	0.51449	0.853;0.945;0.879;0.879	P;P;P;P	0.52881	0.588;0.573;0.618;0.712	T	0.06661	-1.0814	10	0.42905	T	0.14	-11.4582	9.0904	0.36607	0.1824:0.0:0.8176:0.0	.	420;431;423;427	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	427;377;431;420;377	ENSP00000386565:K427N;ENSP00000387038:K377N;ENSP00000376855:K431N;ENSP00000309066:K420N	ENSP00000309066:K420N	K	+	3	2	DPP10	116251313	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.075000	0.50073	1.450000	0.47717	0.655000	0.94253	AAG		PASS	0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		9	23	9	23	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120714483	120714483	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:120714483A>G	ENST00000263708.2	+	21	2815	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	PTPN4_ENST00000544261.1_Missense_Mutation_p.K315E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	682	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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.K682E(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GAATATTTCCAAAAATAGATA	0.269																																						uc002tmf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2044-2046)AAA>GAA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						73.0	83.0	80.0					2																	120714483		2203	4298	6501	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120714483A>G		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.2044A>G	2.37:g.120714483A>G	ENSP00000263708:p.Lys682Glu					PTPN4_uc010flj.1_Missense_Mutation_p.K395E|PTPN4_uc010yyr.1_Missense_Mutation_p.K315E	p.K682E	NM_002830	NP_002821	P29074	PTN4_HUMAN			21	2815	+			682			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2044A>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675690	0.47781	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.21361	2.01;2.01	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.101606	0.64402	D	0.000001	T	0.64046	0.2563	H	0.98682	4.3	0.58432	D	0.999995	D	0.67145	0.996	D	0.76071	0.987	T	0.79776	-0.1661	10	0.87932	D	0	.	15.2057	0.73177	1.0:0.0:0.0:0.0	.	682	P29074	PTN4_HUMAN	E	682;315	ENSP00000263708:K682E;ENSP00000445841:K315E	ENSP00000263708:K682E	K	+	1	0	PTPN4	120430953	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.209000	0.77916	1.982000	0.57802	0.533000	0.62120	AAA		PASS	0.269	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			21	58	21	58	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125660468	125660468	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:125660468G>T	ENST00000431078.1	+	22	3807	c.3443G>T	c.(3442-3444)gGt>gTt	p.G1148V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1148	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G1148V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGAATCTTGGTTTGGATTCT	0.403																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(3442-3444)GGT>GTT		contactin associated protein-like 5 precursor							56.0	56.0	56.0					2																	125660468		1924	4148	6072	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660468G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3443G>T	2.37:g.125660468G>T	ENSP00000399013:p.Gly1148Val					CNTNAP5_uc010flu.2_Missense_Mutation_p.G1149V	p.G1148V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3807	+			1148			Extracellular (Potential).|Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3443G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	0.544	-0.852499	0.02630	.	.	ENSG00000155052	ENST00000431078	T	0.79454	-1.27	5.5	2.63	0.31362	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.171100	0.06432	N	0.724253	T	0.70859	0.3272	L	0.53671	1.685	0.09310	N	0.999995	B	0.09022	0.002	B	0.15052	0.012	T	0.51857	-0.8652	10	0.29301	T	0.29	.	4.0615	0.09841	0.1488:0.1352:0.5914:0.1246	.	1148	Q8WYK1	CNTP5_HUMAN	V	1148	ENSP00000399013:G1148V	ENSP00000399013:G1148V	G	+	2	0	CNTNAP5	125376938	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.699000	0.25586	0.252000	0.21531	0.655000	0.94253	GGT		PASS	0.403	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	13	3	13	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133539728	133539728	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:133539728T>C	ENST00000409261.1	-	14	5029	c.4656A>G	c.(4654-4656)aaA>aaG	p.K1552K	NCKAP5_ENST00000317721.6_Silent_p.K1552K|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1552								p.K1552K(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						TTTTCTCTTTTTTTCTTTCTG	0.383																																						uc002ttp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4654-4656)AAA>AAG		Nck-associated protein 5 isoform 1							114.0	109.0	110.0					2																	133539728		1830	4087	5917	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133539728T>C	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.4656A>G	2.37:g.133539728T>C						NCKAP5_uc002ttq.2_Intron	p.K1552K	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	5030	-			1552					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4656A>G	CCDS46418.1																																																																																				PASS	0.383	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		15	60	15	60	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160255379	160255379	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:160255379C>T	ENST00000392783.2	-	18	3420	c.2925G>A	c.(2923-2925)gcG>gcA	p.A975A	AC008277.1_ENST00000594921.1_RNA|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Silent_p.A875A|BAZ2B_ENST00000392782.1_Silent_p.A939A|BAZ2B_ENST00000355831.2_Silent_p.A941A|AC008277.1_ENST00000608714.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	975	Lys-rich.				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.A975A(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						TGGCATTTGCCGCTTCTTCCT	0.343																																						uc002uao.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2923-2925)GCG>GCA		bromodomain adjacent to zinc finger domain, 2B							120.0	114.0	116.0					2																	160255379		1827	4088	5915	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160255379C>T	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.2925G>A	2.37:g.160255379C>T						BAZ2B_uc002uap.2_Silent_p.A939A|BAZ2B_uc002uaq.1_Silent_p.A805A	p.A975A	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			18	3277	-			975			Lys-rich.|Potential.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.2925G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	9.857	1.195246	0.22037	.	.	ENSG00000123636	ENST00000294905	.	.	.	6.07	-1.5	0.08691	.	.	.	.	.	T	0.65780	0.2724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60372	-0.7276	4	.	.	.	-6.8808	14.512	0.67794	0.0:0.3952:0.0:0.6048	.	.	.	.	S	27	.	.	G	-	1	0	BAZ2B	159963625	0.005000	0.15991	0.865000	0.33974	0.989000	0.77384	-1.543000	0.02194	-0.974000	0.03550	-0.797000	0.03246	GGC		PASS	0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			12	32	12	32	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162735785	162735785	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:162735785C>A	ENST00000446997.1	+	9	1186	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	SLC4A10_ENST00000421911.1_Missense_Mutation_p.P365T|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.P346T|SLC4A10_ENST00000535165.1_Missense_Mutation_p.P365T|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P335T|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P335T	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	365					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.P335T(1)|p.P365T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GGCTGAAGTCCCAATCCCAAC	0.388																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1093-1095)CCA>ACA		solute carrier family 4, sodium bicarbonate							158.0	155.0	156.0					2																	162735785		1874	4103	5977	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162735785C>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1093C>A	2.37:g.162735785C>A	ENSP00000393066:p.Pro365Thr					SLC4A10_uc010fpa.1_Missense_Mutation_p.P377T|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.P335T|SLC4A10_uc010zcs.1_Missense_Mutation_p.P346T	p.P365T	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			9	1277	+			365			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1093C>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846987	0.91277	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.75	5.75	0.90469	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.046340	0.85682	D	0.000000	D	0.92163	0.7515	M	0.91818	3.245	0.80722	D	1	D;P;D;D	0.71674	0.989;0.87;0.989;0.998	D;P;D;D	0.75020	0.944;0.812;0.944;0.985	D	0.92757	0.6221	10	0.59425	D	0.04	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	346;365;335;365	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	T	346;335;365;335;334;365;365;364	ENSP00000364664:P346T;ENSP00000395797:P335T;ENSP00000437527:P365T;ENSP00000272716:P335T;ENSP00000393066:P365T;ENSP00000404486:P365T	ENSP00000272716:P335T	P	+	1	0	SLC4A10	162444031	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	CCA		PASS	0.388	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		17	80	17	80	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166201106	166201106	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:166201106T>C	ENST00000375437.2	+	16	2894	c.2604T>C	c.(2602-2604)aaT>aaC	p.N868N	SCN2A_ENST00000375427.2_Silent_p.N868N|SCN2A_ENST00000357398.3_Silent_p.N868N|SCN2A_ENST00000283256.6_Silent_p.N868N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	868					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.N868N(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)	CAACTCTAAATATGCTAATTA	0.408																																						uc002udc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(2602-2604)AAT>AAC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						60.0	62.0	61.0					2																	166201106		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166201106T>C	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.2604T>C	2.37:g.166201106T>C						SCN2A_uc002udd.2_Silent_p.N868N|SCN2A_uc002ude.2_Silent_p.N868N	p.N868N	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			16	2894	+			868			II.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.2604T>C	CCDS33314.1																																																																																				PASS	0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		18	39	18	39	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171939356	171939356	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:171939356T>C	ENST00000431350.2	-	3	669	c.265A>G	c.(265-267)Aca>Gca	p.T89A	TLK1_ENST00000360843.3_Missense_Mutation_p.T89A|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000521943.1_Missense_Mutation_p.T41A|TLK1_ENST00000442919.2_Missense_Mutation_p.T41A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	89					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.T89A(1)|p.T41A(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						TCGTTATTTGTTGAGGCCTGT	0.279																																						uc002ugn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(265-267)ACA>GCA		tousled-like kinase 1 isoform 1							83.0	91.0	88.0					2																	171939356		2201	4297	6498	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171939356T>C	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.265A>G	2.37:g.171939356T>C	ENSP00000411099:p.Thr89Ala					TLK1_uc002ugo.2_Missense_Mutation_p.T89A|TLK1_uc002ugp.2_Missense_Mutation_p.T41A|TLK1_uc002ugq.2_RNA	p.T89A	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			3	737	-			89					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.265A>G	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	T	9.390	1.075358	0.20227	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.33	5.33	0.75918	.	0.269202	0.41001	D	0.000973	T	0.43344	0.1243	N	0.03115	-0.41	0.40185	D	0.977338	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.39396	-0.9616	10	0.33940	T	0.23	.	13.1066	0.59252	0.0:0.0:0.0:1.0	.	89;89	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	A	41;89;89;41	ENSP00000402165:T41A;ENSP00000411099:T89A;ENSP00000354089:T89A;ENSP00000428113:T41A	ENSP00000352810:T89A	T	-	1	0	TLK1	171647602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.103000	0.71492	2.146000	0.66826	0.482000	0.46254	ACA		PASS	0.279	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		19	58	19	58	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179402307	179402307	+	Silent	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:179402307A>G	ENST00000591111.1	-	305	94928	c.94704T>C	c.(94702-94704)gcT>gcC	p.A31568A	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Silent_p.A33209A|TTN_ENST00000342992.6_Silent_p.A30641A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A24269A|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Silent_p.A24144A|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.A24336A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31568					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.A24336A(1)|p.A24144A(1)|p.A30641A(1)|p.A30639A(1)|p.A24269A(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)			TGGAACCCACAGCTCCATAAT	0.453																																						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.(91921-91923)GCT>GCC		titin isoform N2-A							81.0	81.0	81.0					2																	179402307		1885	4106	5991	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402307A>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.94704T>C	2.37:g.179402307A>G						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A24336A|TTN_uc010zfi.1_Silent_p.A24269A|TTN_uc010zfj.1_Silent_p.A24144A	p.A30641A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	92147	-			31568					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.91923T>C																																																																																					PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	28	6	28	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196709795	196709795	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:196709795G>C	ENST00000312428.6	-	47	8976	c.8876C>G	c.(8875-8877)aCa>aGa	p.T2959R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2959	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.T2959R(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						AGTTCGAATTGTCACAGCTTC	0.373																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(8875-8877)ACA>AGA		dynein, axonemal, heavy chain 7							115.0	106.0	108.0					2																	196709795		1855	4105	5960	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196709795G>C	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.8876C>G	2.37:g.196709795G>C	ENSP00000311273:p.Thr2959Arg						p.T2959R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			47	8977	-			2959			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8876C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607832	0.46527	.	.	ENSG00000118997	ENST00000312428	T	0.42513	0.97	5.42	3.43	0.39272	.	0.169358	0.48767	D	0.000162	T	0.38665	0.1049	L	0.42686	1.345	0.80722	D	1	B	0.21225	0.053	B	0.33121	0.158	T	0.32322	-0.9911	10	0.44086	T	0.13	.	11.6743	0.51422	0.0:0.0:0.4711:0.5289	.	2959	Q8WXX0	DYH7_HUMAN	R	2959	ENSP00000311273:T2959R	ENSP00000311273:T2959R	T	-	2	0	DNAH7	196418040	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	4.827000	0.62723	1.458000	0.47871	0.650000	0.86243	ACA		PASS	0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	18	6	18	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207170724	207170724	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:207170724G>C	ENST00000374423.3	+	5	1858	c.1472G>C	c.(1471-1473)aGt>aCt	p.S491T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	491							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S491T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAATCTAGTAGTTCTGAAACG	0.393																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1471-1473)AGT>ACT		zinc finger, DBF-type containing 2							100.0	92.0	94.0					2																	207170724		1886	4115	6001	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170724G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1472G>C	2.37:g.207170724G>C	ENSP00000363545:p.Ser491Thr						p.S491T	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	1722	+			491					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1472G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	1.181	-0.638246	0.03557	.	.	ENSG00000204186	ENST00000374423	T	0.41400	1.0	4.72	-2.4	0.06583	.	1.957170	0.02577	N	0.098433	T	0.33381	0.0861	L	0.47190	1.495	0.09310	N	1	B	0.34061	0.436	B	0.30179	0.112	T	0.18178	-1.0345	10	0.42905	T	0.14	.	5.7668	0.18231	0.5051:0.0:0.3647:0.1303	.	491	Q9HCK1	ZDBF2_HUMAN	T	491	ENSP00000363545:S491T	ENSP00000363545:S491T	S	+	2	0	ZDBF2	206878969	0.995000	0.38212	0.113000	0.21522	0.028000	0.11728	0.297000	0.19101	-0.673000	0.05259	-2.678000	0.00142	AGT		PASS	0.393	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		10	37	10	37	---	---	---	---
VWC2L	402117	broad.mit.edu	37	2	215440509	215440509	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:215440509T>C	ENST00000312504.5	+	4	1436	c.634T>C	c.(634-636)Tcg>Ccg	p.S212P	VWC2L_ENST00000427124.1_3'UTR|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	212					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.S212P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGCTCAGTGTTCGAAACGTGA	0.473																																						uc002vet.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)TCG>CCG		von Willebrand factor C domain-containing							225.0	222.0	223.0					2																	215440509		2036	4193	6229	SO:0001583	missense	402117					extracellular region		g.chr2:215440509T>C	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.634T>C	2.37:g.215440509T>C	ENSP00000308976:p.Ser212Pro					VWC2L_uc010zjl.1_3'UTR	p.S212P	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			4	764	+			212					A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.634T>C	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468636	0.43839	.	.	ENSG00000174453	ENST00000312504	T	0.46063	0.88	5.58	5.58	0.84498	.	.	.	.	.	T	0.30103	0.0754	N	0.24115	0.695	0.80722	D	1	P	0.44090	0.826	B	0.38327	0.271	T	0.05920	-1.0856	9	0.30078	T	0.28	-1.1663	15.759	0.78063	0.0:0.0:0.0:1.0	.	212	B2RUY7	VWC2L_HUMAN	P	212	ENSP00000308976:S212P	ENSP00000308976:S212P	S	+	1	0	VWC2L	215148754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.970000	0.70431	2.121000	0.65114	0.533000	0.62120	TCG		PASS	0.473	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		33	88	33	88	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220167470	220167470	+	Missense_Mutation	SNP	C	C	T	rs373811949		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:220167470C>T	ENST00000295718.2	-	5	707	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	PTPRN_ENST00000423636.2_Missense_Mutation_p.R66Q|PTPRN_ENST00000409251.3_Missense_Mutation_p.R156Q|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	156					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R156Q(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TTGTGGAAGCCGATGCTGGGC	0.632																																						uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(466-468)CGG>CAG		protein tyrosine phosphatase, receptor type, N		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	47.0	55.0	52.0		467,197,467	3.9	0.0	2		52	0,8600		0,0,4300	no	missense,missense,missense	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	43,43,43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	156/951,66/890,156/980	220167470	1,13003	2202	4300	6502	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167470C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.467G>A	2.37:g.220167470C>T	ENSP00000295718:p.Arg156Gln					PTPRN_uc010zlc.1_Missense_Mutation_p.R66Q|PTPRN_uc002vla.2_Missense_Mutation_p.R156Q	p.R156Q	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	5	556	-		Renal(207;0.0474)	156			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.467G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.442014	0.04604	2.27E-4	0.0	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029;ENST00000451506	T;T;T	0.03441	3.93;3.97;3.96	4.79	3.9	0.45041	.	0.434585	0.18349	N	0.143937	T	0.02649	0.0080	L	0.36672	1.1	0.09310	N	1	P;P	0.41188	0.741;0.741	B;B	0.28465	0.09;0.066	T	0.46871	-0.9160	10	0.17832	T	0.49	.	9.9422	0.41587	0.2183:0.7817:0.0:0.0	.	156;156	Q6NSL1;Q16849	.;PTPRN_HUMAN	Q	156;156;156;66;66;66;123;66;66	ENSP00000386638:R156Q;ENSP00000295718:R156Q;ENSP00000444244:R66Q	ENSP00000295718:R156Q	R	-	2	0	PTPRN	219875714	0.028000	0.19301	0.004000	0.12327	0.006000	0.05464	0.920000	0.28705	1.202000	0.43218	0.561000	0.74099	CGG		PASS	0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			20	36	20	36	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227886820	227886820	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:227886820A>G	ENST00000396625.3	-	44	4367	c.4160T>C	c.(4159-4161)aTg>aCg	p.M1387T	COL4A4_ENST00000329662.7_Missense_Mutation_p.M1384T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1387	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.M1387T(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCTCTCATGCCTGGCGC	0.547																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(4159-4161)ATG>ACG		alpha 4 type IV collagen precursor							129.0	137.0	135.0					2																	227886820		1890	4103	5993	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886820A>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4160T>C	2.37:g.227886820A>G	ENSP00000379866:p.Met1387Thr						p.M1387T	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	43	4814	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1387			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4160T>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	A	3.135	-0.177645	0.06380	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.89681	-2.55;-2.52	5.63	3.77	0.43336	.	.	.	.	.	T	0.72755	0.3500	N	0.04508	-0.205	0.20307	N	0.999917	B	0.02656	0.0	B	0.01281	0.0	T	0.58244	-0.7670	9	0.15066	T	0.55	.	6.6369	0.22887	0.0927:0.0:0.7302:0.177	.	1387	P53420	CO4A4_HUMAN	T	1387;1384	ENSP00000379866:M1387T;ENSP00000328553:M1384T	ENSP00000328553:M1384T	M	-	2	0	COL4A4	227595064	0.984000	0.35163	0.818000	0.32626	0.208000	0.24298	1.640000	0.37186	0.790000	0.33803	-0.366000	0.07423	ATG		PASS	0.547	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		46	119	46	119	---	---	---	---
SP100	6672	broad.mit.edu	37	2	231405712	231405712	+	Splice_Site	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:231405712G>T	ENST00000340126.4	+	26	2362		c.e26+1		AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen						cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|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 transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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)		GGAGCAGTTGGTGAGTAAAAA	0.478																																						uc002vqu.1																			1	Unknown(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.e26+1		nuclear antigen Sp100 isoform 1							91.0	94.0	93.0					2																	231405712		1937	4138	6075	SO:0001630	splice_region_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231405712G>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2331+1G>T	2.37:g.231405712G>T						SP100_uc010fxp.1_Splice_Site_p.L95_splice	p.L777_splice	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	26	2472	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)						B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Splice_Site	SNP	ENST00000340126.4	37	c.2331_splice	CCDS42832.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961883	0.53400	.	.	ENSG00000067066	ENST00000340126;ENST00000414648;ENST00000431952	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.607	0.56529	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SP100	231113956	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.844000	0.55873	2.703000	0.92315	0.655000	0.94253	.		PASS	0.478	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113	Intron	14	44	14	44	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240929490	240929490	+	Splice_Site	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:240929490C>T	ENST00000252711.2	-	9	1100		c.e9+1		NDUFA10_ENST00000307300.4_Splice_Site|NDUFA10_ENST00000404554.1_Splice_Site	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)	p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CACAGTCTTACCTCTCTGAAC	0.473																																						uc002vyn.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e9+1		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						102.0	94.0	97.0					2																	240929490		2203	4300	6503	SO:0001630	splice_region_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240929490C>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.999+1G>A	2.37:g.240929490C>T						NDUFA10_uc010fzc.1_Splice_Site_p.E363_splice	p.E333_splice	NM_004544	NP_004535	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	9	1079	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)						Q8WXC9	Splice_Site	SNP	ENST00000252711.2	37	c.999_splice	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	9.491	1.100624	0.20552	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000444548;ENST00000448880;ENST00000307300	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7257	0.62756	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NDUFA10	240578163	0.915000	0.31059	0.613000	0.29037	0.012000	0.07955	3.012000	0.49575	2.391000	0.81399	0.563000	0.77884	.		PASS	0.473	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544	Intron	12	28	12	28	---	---	---	---
AGXT	189	broad.mit.edu	37	2	241817438	241817438	+	Splice_Site	SNP	G	G	T	rs180177298		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr2:241817438G>T	ENST00000307503.3	+	10	1329		c.e10-1			NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase						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 (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CCCTCCTGCAGGCGCTCCGGC	0.602																																						uc002waa.3																			1	Unknown(1)		lung(1)		0						c.e10-1		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						32.0	32.0	32.0					2																	241817438		2203	4300	6503	SO:0001630	splice_region_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241817438G>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.943-1G>T	2.37:g.241817438G>T						AGXT_uc002wab.3_Splice_Site_p.A193_splice	p.A315_splice	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	10	1064	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)						Q53QU6	Splice_Site	SNP	ENST00000307503.3	37	c.943_splice	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508906	0.44660	.	.	ENSG00000172482	ENST00000307503	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0854	0.72148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGXT	241466111	1.000000	0.71417	0.972000	0.41901	0.477000	0.33069	5.940000	0.70187	2.131000	0.65755	0.655000	0.94253	.		PASS	0.602	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	Intron	6	23	6	23	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38739960	38739960	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:38739960A>C	ENST00000449082.2	-	27	4750	c.4751T>G	c.(4750-4752)cTc>cGc	p.L1584R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1584					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.L1584R(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)	GATCAGTCTGAGGATGCGGCC	0.522																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4750-4752)CTC>CGC		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)						97.0	95.0	95.0					3																	38739960		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739960A>C	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.4751T>G	3.37:g.38739960A>C	ENSP00000390600:p.Leu1584Arg						p.L1584R	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4751	-			1584			IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4751T>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176968	0.78564	.	.	ENSG00000185313	ENST00000449082	D	0.99201	-5.55	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.99740	4.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.70935	0.971	D	0.97195	0.9860	10	0.87932	D	0	.	15.6223	0.76816	1.0:0.0:0.0:0.0	.	1584	Q9Y5Y9	SCNAA_HUMAN	R	1584	ENSP00000390600:L1584R	ENSP00000390600:L1584R	L	-	2	0	SCN10A	38714964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.127000	0.94417	2.277000	0.76020	0.533000	0.62120	CTC		PASS	0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		20	23	20	23	---	---	---	---
ZNF654	55279	broad.mit.edu	37	3	88189354	88189354	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:88189354G>T	ENST00000309495.5	+	1	1101	c.894G>T	c.(892-894)caG>caT	p.Q298H	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	298					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.Q259H(1)|p.Q298H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTCAGGCTCAGTGTAGTTTTC	0.403																																						uc003dqv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(892-894)CAG>CAT		zinc finger protein 654							116.0	109.0	111.0					3																	88189354		1889	4115	6004	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189354G>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.894G>T	3.37:g.88189354G>T	ENSP00000312141:p.Gln298His					CGGBP1_uc003dqu.2_Intron	p.Q298H	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1093	+		Lung NSC(201;0.0283)	298			C2H2-type 5.		Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.894G>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204082	0.58234	.	.	ENSG00000175105	ENST00000309495	T	0.36340	1.26	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);	0.902379	0.09522	N	0.790762	T	0.60379	0.2264	L	0.59436	1.845	0.35475	D	0.797715	D	0.76494	0.999	D	0.71656	0.974	T	0.56062	-0.8041	10	0.33940	T	0.23	.	19.2063	0.93732	0.0:0.0:1.0:0.0	.	298	Q8IZM8	ZN654_HUMAN	H	298	ENSP00000312141:Q298H	ENSP00000312141:Q298H	Q	+	3	2	ZNF654	88272044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.323000	0.79105	2.785000	0.95823	0.655000	0.94253	CAG		PASS	0.403	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		28	46	28	46	---	---	---	---
HHLA2	11148	broad.mit.edu	37	3	108076898	108076898	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:108076898G>C	ENST00000357759.5	+	6	1307	c.893G>C	c.(892-894)aGt>aCt	p.S298T	HHLA2_ENST00000467761.1_Missense_Mutation_p.S298T|HHLA2_ENST00000467562.1_Missense_Mutation_p.S234T|HHLA2_ENST00000491820.1_Missense_Mutation_p.S298T|HHLA2_ENST00000489514.2_Missense_Mutation_p.S298T	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	298	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.S298T(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATAAACCAGAGTGACTTCTCT	0.373																																						uc003dwy.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(892-894)AGT>ACT		HERV-H LTR-associating 2 precursor							145.0	142.0	143.0					3																	108076898		1854	4094	5948	SO:0001583	missense	11148					integral to membrane		g.chr3:108076898G>C	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.893G>C	3.37:g.108076898G>C	ENSP00000350402:p.Ser298Thr					HHLA2_uc011bhl.1_Missense_Mutation_p.S234T|HHLA2_uc010hpu.2_Missense_Mutation_p.S298T|HHLA2_uc003dwz.2_Missense_Mutation_p.S298T	p.S298T	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			6	1060	+			298			Ig-like V-type 2.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.893G>C	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.260|6.260	0.416097|0.416097	0.11870|0.11870	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000482099|ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	4.95|4.95	0.667|0.667	0.17907|0.17907	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.647257	.|0.12845	.|N	.|0.434493	T|T	0.46386|0.46386	0.1390|0.1390	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.37914	.|0.458;0.611;0.611	.|B;B;B	.|0.40410	.|0.328;0.243;0.243	T|T	0.30060|0.30060	-0.9991|-0.9991	5|10	.|0.27082	.|T	.|0.32	0.755|0.755	8.7533|8.7533	0.34631|0.34631	0.3455:0.0:0.6545:0.0|0.3455:0.0:0.6545:0.0	.|.	.|234;298;298	.|B4DKN2;C9J7D0;Q9UM44	.|.;.;HHLA2_HUMAN	D|T	200|298;234;298;298;298	.|ENSP00000418284:S298T;ENSP00000418345:S234T;ENSP00000350402:S298T;ENSP00000419207:S298T;ENSP00000417856:S298T	.|ENSP00000350402:S298T	E|S	+|+	3|2	2|0	HHLA2|HHLA2	109559588|109559588	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.069000|0.069000	0.16628|0.16628	-0.352000|-0.352000	0.07701|0.07701	0.143000|0.143000	0.18926|0.18926	0.650000|0.650000	0.86243|0.86243	GAG|AGT		PASS	0.373	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		23	90	23	90	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108572698	108572698	+	Missense_Mutation	SNP	C	C	A	rs183150826	byFrequency	TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:108572698C>A	ENST00000295756.6	+	6	765	c.535C>A	c.(535-537)Cgt>Agt	p.R179S	TRAT1_ENST00000426646.1_Missense_Mutation_p.R142S	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	179					cellular defense response (GO:0006968)|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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R179S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGGATTGATCCGTGCTAAGAG	0.433																																						uc003dxi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(535-537)CGT>AGT		T-cell receptor interacting molecule							110.0	114.0	113.0					3																	108572698		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572698C>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.535C>A	3.37:g.108572698C>A	ENSP00000295756:p.Arg179Ser					TRAT1_uc010hpx.1_Missense_Mutation_p.R142S	p.R179S	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	679	+			179			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.535C>A	CCDS33813.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.25	3.790958	0.70452	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.33654	1.41;1.4	5.85	5.85	0.93711	.	0.303423	0.29080	N	0.013212	T	0.54498	0.1862	M	0.63428	1.95	0.35088	D	0.764013	D;D	0.62365	0.991;0.991	P;P	0.60345	0.873;0.873	T	0.65429	-0.6170	10	0.72032	D	0.01	-24.9599	15.6732	0.77295	0.0:1.0:0.0:0.0	.	142;179	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	S	179;142	ENSP00000295756:R179S;ENSP00000410097:R142S	ENSP00000295756:R179S	R	+	1	0	TRAT1	110055388	1.000000	0.71417	0.999000	0.59377	0.545000	0.35147	4.218000	0.58554	2.768000	0.95171	0.655000	0.94253	CGT		PASS	0.433	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		20	87	20	87	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113299545	113299545	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:113299545C>G	ENST00000264852.4	+	5	1378	c.652C>G	c.(652-654)Cag>Gag	p.Q218E	SIDT1_ENST00000393830.3_Missense_Mutation_p.Q218E	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	218					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.Q218E(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTCTCAGTCCAGAATATCAT	0.383																																						uc003eak.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(652-654)CAG>GAG		SID1 transmembrane family, member 1 precursor							176.0	173.0	174.0					3																	113299545		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113299545C>G	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.652C>G	3.37:g.113299545C>G	ENSP00000264852:p.Gln218Glu					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.Q218E|SIDT1_uc011big.1_5'UTR	p.Q218E	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			5	1303	+			218			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.652C>G	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381459	0.82792	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.26810	1.71;1.71	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000008	T	0.59514	0.2199	M	0.87456	2.885	0.53688	D	0.999974	D	0.76494	0.999	D	0.91635	0.999	T	0.64879	-0.6303	10	0.72032	D	0.01	-12.6594	19.4269	0.94746	0.0:1.0:0.0:0.0	.	218	Q9NXL6	SIDT1_HUMAN	E	218	ENSP00000264852:Q218E;ENSP00000377416:Q218E	ENSP00000264852:Q218E	Q	+	1	0	SIDT1	114782235	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.643000	0.67895	2.766000	0.95052	0.491000	0.48974	CAG		PASS	0.383	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		24	84	24	84	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121206279	121206279	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:121206279G>C	ENST00000264233.5	-	16	5627	c.5499C>G	c.(5497-5499)gaC>gaG	p.D1833E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1833					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.D1968E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAAGATTTTGGTCACTTGCTA	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5497-5499)GAC>GAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							123.0	120.0	121.0					3																	121206279		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206279G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5499C>G	3.37:g.121206279G>C	ENSP00000264233:p.Asp1833Glu					POLQ_uc003eed.2_Missense_Mutation_p.D1005E	p.D1833E	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5628	-			1833					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5499C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753493	0.49362	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.59364	0.27	5.9	1.01	0.19927	.	0.149365	0.64402	D	0.000017	T	0.62780	0.2456	M	0.66939	2.045	0.28015	N	0.934731	P;D	0.56746	0.914;0.977	B;P	0.53401	0.351;0.725	T	0.60747	-0.7202	10	0.62326	D	0.03	.	10.5768	0.45231	0.3772:0.0:0.6228:0.0	.	1833;1005	O75417;O75417-2	DPOLQ_HUMAN;.	E	1456;1833;1969	ENSP00000264233:D1833E	ENSP00000264233:D1833E	D	-	3	2	POLQ	122688969	0.732000	0.28121	0.948000	0.38648	0.989000	0.77384	0.899000	0.28417	-0.098000	0.12285	0.563000	0.77884	GAC		PASS	0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		25	92	25	92	---	---	---	---
PLSCR4	57088	broad.mit.edu	37	3	145924389	145924389	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:145924389T>A	ENST00000354952.2	-	4	518	c.278A>T	c.(277-279)cAg>cTg	p.Q93L	PLSCR4_ENST00000433593.2_Missense_Mutation_p.Q78L|PLSCR4_ENST00000446574.2_Missense_Mutation_p.Q93L|PLSCR4_ENST00000493382.1_Missense_Mutation_p.Q93L|PLSCR4_ENST00000383083.2_Missense_Mutation_p.Q93L	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	93	Proline-rich domain (PRD). {ECO:0000250}.				cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.Q93L(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGGAACAGACTGATTTGGCAT	0.468																																						uc010huy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)CAG>CTG		phospholipid scramblase 4 isoform a							126.0	115.0	118.0					3																	145924389		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145924389T>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.278A>T	3.37:g.145924389T>A	ENSP00000347038:p.Gln93Leu					PLSCR4_uc010huz.2_Missense_Mutation_p.Q93L|PLSCR4_uc003evt.3_Missense_Mutation_p.Q93L|PLSCR4_uc010hva.2_Missense_Mutation_p.Q93L|PLSCR4_uc003evu.3_Missense_Mutation_p.Q78L	p.Q93L	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			4	607	-			93			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.278A>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	T	6.287	0.421037	0.11928	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000460885;ENST00000476202;ENST00000481701;ENST00000498625	T;T;T;T;T;T;T;T;T;T	0.50813	2.11;1.32;1.34;2.11;2.11;1.77;0.74;1.76;0.76;0.73	4.33	0.238	0.15480	.	0.563568	0.13616	U	0.374792	T	0.34600	0.0903	L	0.47716	1.5	0.09310	N	1	B;P	0.35433	0.164;0.501	B;B	0.27608	0.06;0.081	T	0.10989	-1.0606	10	0.27082	T	0.32	.	11.6394	0.51224	0.0:0.0:0.3817:0.6183	.	93;93	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	L	93;93;78;93;93;93;93;93;93;93	ENSP00000347038:Q93L;ENSP00000372561:Q93L;ENSP00000415605:Q78L;ENSP00000399315:Q93L;ENSP00000419040:Q93L;ENSP00000417896:Q93L;ENSP00000420385:Q93L;ENSP00000418173:Q93L;ENSP00000418419:Q93L;ENSP00000417248:Q93L	ENSP00000347038:Q93L	Q	-	2	0	PLSCR4	147407079	0.013000	0.17824	0.002000	0.10522	0.043000	0.13939	0.281000	0.18810	0.287000	0.22375	0.528000	0.53228	CAG		PASS	0.468	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		16	82	16	82	---	---	---	---
MME	4311	broad.mit.edu	37	3	154857994	154857994	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:154857994T>C	ENST00000460393.1	+	10	990	c.870T>C	c.(868-870)ccT>ccC	p.P290P	MME_ENST00000493237.1_Silent_p.P290P|MME_ENST00000462745.1_Silent_p.P290P|MME_ENST00000492661.1_Silent_p.P290P|MME_ENST00000360490.2_Silent_p.P290P	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	290					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.P290P(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)	CGGCTAAACCTGAAGATCGAA	0.308																																						uc010hvr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(868-870)CCT>CCC		membrane metallo-endopeptidase	Candoxatril(DB00616)						70.0	65.0	67.0					3																	154857994		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154857994T>C		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.870T>C	3.37:g.154857994T>C						MME_uc003fab.1_Silent_p.P290P|MME_uc003fac.1_Silent_p.P290P|MME_uc003fad.1_Silent_p.P290P|MME_uc003fae.1_Silent_p.P290P	p.P290P	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		10	1081	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	290			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.870T>C	CCDS3172.1																																																																																				PASS	0.308	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		3	36	3	36	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167035342	167035342	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:167035342G>T	ENST00000392766.2	-	13	1367	c.1027C>A	c.(1027-1029)Cca>Aca	p.P343T	ZBBX_ENST00000392767.2_Missense_Mutation_p.P343T|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.P343T|ZBBX_ENST00000392764.1_Missense_Mutation_p.P314T|ZBBX_ENST00000307529.5_Missense_Mutation_p.P343T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	343						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P343T(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGGATGTGGGAACGTATCT	0.338																																						uc003fep.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1027-1029)CCA>ACA		zinc finger, B-box domain containing							190.0	173.0	178.0					3																	167035342		1850	4089	5939	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167035342G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1027C>A	3.37:g.167035342G>T	ENSP00000376519:p.Pro343Thr					ZBBX_uc011bpc.1_Missense_Mutation_p.P343T|ZBBX_uc003feq.2_Missense_Mutation_p.P314T	p.P343T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			13	1350	-			343					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1027C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	7.461	0.644732	0.14451	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.09163	3.18;3.18;3.19;3.19;3.01	5.34	-1.83	0.07833	.	1.885390	0.02115	N	0.055113	T	0.04770	0.0129	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37384	-0.9708	10	0.20046	T	0.44	1.1555	9.0635	0.36449	0.0:0.0776:0.5546:0.3677	.	343;343	A8MT70-2;A8MT70	.;ZBBX_HUMAN	T	343;343;343;343;314	ENSP00000376519:P343T;ENSP00000376520:P343T;ENSP00000390232:P343T;ENSP00000305065:P343T;ENSP00000376517:P314T	ENSP00000305065:P343T	P	-	1	0	ZBBX	168518036	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.898000	0.04105	-0.350000	0.08262	-0.271000	0.10264	CCA		PASS	0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		15	72	15	72	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172080476	172080476	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:172080476T>C	ENST00000336824.4	+	23	2948	c.2849T>C	c.(2848-2850)aTt>aCt	p.I950T	FNDC3B_ENST00000415807.2_Missense_Mutation_p.I950T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I950T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	950	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.I950T(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTCAGTTCATTAAAGCAAAA	0.433																																						uc003fhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2848-2850)ATT>ACT		fibronectin type III domain containing 3B							119.0	115.0	117.0					3																	172080476		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172080476T>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2849T>C	3.37:g.172080476T>C	ENSP00000338523:p.Ile950Thr					FNDC3B_uc003fhz.3_Missense_Mutation_p.I950T	p.I950T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	23	3021	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		950			Fibronectin type-III 7.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2849T>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204164	0.58234	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.54071	0.59;0.59;0.59	5.48	5.48	0.80851	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.167405	0.52532	D	0.000069	T	0.64649	0.2617	M	0.90705	3.14	0.80722	D	1	B	0.21309	0.054	B	0.28784	0.094	T	0.67530	-0.5647	10	0.66056	D	0.02	-10.0229	15.5641	0.76277	0.0:0.0:0.0:1.0	.	950	Q53EP0	FND3B_HUMAN	T	950	ENSP00000411242:I950T;ENSP00000338523:I950T;ENSP00000389094:I950T	ENSP00000338523:I950T	I	+	2	0	FNDC3B	173563170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.665000	0.83852	2.072000	0.62099	0.460000	0.39030	ATT		PASS	0.433	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		36	49	36	49	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184043326	184043326	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr3:184043326A>G	ENST00000346169.2	+	20	3291	c.3020A>G	c.(3019-3021)aAg>aGg	p.K1007R	EIF4G1_ENST00000382330.3_Missense_Mutation_p.K1014R|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K811R|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K968R|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K1007R|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K921R|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K844R|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K1014R|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K1008R|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K920R|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K1014R|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K967R|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K812R|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K843R	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1007	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.K1007R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGATCCATAAGGAGGCTGAG	0.592																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3019-3021)AAG>AGG		eukaryotic translation initiation factor 4							115.0	109.0	111.0					3																	184043326		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043326A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3020A>G	3.37:g.184043326A>G	ENSP00000316879:p.Lys1007Arg					EIF4G1_uc003fnt.2_Missense_Mutation_p.K718R|EIF4G1_uc003fnq.2_Missense_Mutation_p.K920R|EIF4G1_uc003fnr.2_Missense_Mutation_p.K843R|EIF4G1_uc010hxx.2_Missense_Mutation_p.K1014R|EIF4G1_uc003fns.2_Missense_Mutation_p.K967R|EIF4G1_uc010hxy.2_Missense_Mutation_p.K1014R|EIF4G1_uc003fnv.3_Missense_Mutation_p.K1008R|EIF4G1_uc003fnu.3_Missense_Mutation_p.K1007R|EIF4G1_uc003fnw.2_Missense_Mutation_p.K1014R|EIF4G1_uc003fnx.2_Missense_Mutation_p.K812R|EIF4G1_uc003fny.3_Missense_Mutation_p.K811R|SNORD66_uc003fnz.2_5'Flank	p.K1007R	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	3218	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1007			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3020A>G	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.52|16.52	3.146529|3.146529	0.57044|0.57044	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046|ENST00000448284	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.04317|.	3.84;3.85;3.76;3.85;3.66;3.85;3.77;3.86;3.84;3.85;3.86;3.67;3.66;3.65|.	5.53|5.53	4.35|4.35	0.52113|0.52113	.|.	0.046975|.	0.85682|.	D|.	0.000000|.	T|T	0.72795|0.72795	0.3505|0.3505	M|M	0.77313|0.77313	2.365|2.365	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.29085|.	0.19;0.126;0.232|.	B;B;B|.	0.30646|.	0.118;0.067;0.082|.	T|T	0.72394|0.72394	-0.4307|-0.4307	10|5	0.27785|.	T|.	0.31|.	-21.009|-21.009	11.8054|11.8054	0.52152|0.52152	0.8685:0.0:0.0:0.1315|0.8685:0.0:0.0:0.1315	.|.	1014;1008;1007|.	E9PFM1;D3DNT2;Q04637|.	.;.;IF4G1_HUMAN|.	R|G	1007;967;920;1014;843;1014;921;1008;1007;1014;968;844;812;811|59	ENSP00000316879:K1007R;ENSP00000391935:K967R;ENSP00000376320:K920R;ENSP00000371767:K1014R;ENSP00000317600:K843R;ENSP00000338020:K1014R;ENSP00000407682:K921R;ENSP00000343450:K1008R;ENSP00000323737:K1007R;ENSP00000416255:K1014R;ENSP00000395974:K968R;ENSP00000399858:K844R;ENSP00000411826:K812R;ENSP00000404754:K811R|.	ENSP00000323737:K1007R|.	K|R	+|+	2|1	0|2	EIF4G1|EIF4G1	185526020|185526020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.490000|7.490000	0.81461|0.81461	0.902000|0.902000	0.36520|0.36520	0.459000|0.459000	0.35465|0.35465	AAG|AGG		PASS	0.592	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		34	113	34	113	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13602759	13602759	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:13602759G>A	ENST00000040738.5	-	10	5900	c.5765C>T	c.(5764-5766)gCc>gTc	p.A1922V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1922						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A1922V(1)									ATTCATGATGGCAGCTCCAGC	0.443																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(5764-5766)GCC>GTC		biorientation of chromosomes in cell division							106.0	102.0	103.0					4																	13602759		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602759G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5765C>T	4.37:g.13602759G>A	ENSP00000040738:p.Ala1922Val					BOD1L_uc010idr.1_Missense_Mutation_p.A1259V	p.A1922V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5882	-			1922					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5765C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554707	0.27739	.	.	ENSG00000038219	ENST00000040738	T	0.08102	3.13	4.79	4.79	0.61399	.	0.241383	0.29015	N	0.013411	T	0.05640	0.0148	L	0.27053	0.805	0.09310	N	1	P	0.42908	0.793	B	0.38842	0.283	T	0.36792	-0.9733	10	0.15066	T	0.55	-1.1638	9.3961	0.38404	0.1531:0.0:0.8469:0.0	.	1922	Q8NFC6	BOD1L_HUMAN	V	1922	ENSP00000040738:A1922V	ENSP00000040738:A1922V	A	-	2	0	BOD1L	13211857	0.118000	0.22208	0.013000	0.15412	0.564000	0.35744	2.499000	0.45372	2.203000	0.70933	0.561000	0.74099	GCC		PASS	0.443	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		16	40	16	40	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57897088	57897088	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:57897088C>G	ENST00000381227.1	+	26	3872	c.3459C>G	c.(3457-3459)taC>taG	p.Y1153*	POLR2B_ENST00000431623.2_Nonsense_Mutation_p.Y1078*|IGFBP7_ENST00000295666.4_3'UTR|POLR2B_ENST00000441246.2_Nonsense_Mutation_p.Y1146*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.Y1153*|IGFBP7_ENST00000512512.1_5'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1153					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.Y1153*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAATGCCTTACGCATGCAAAC	0.353																																						uc003hcl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(3457-3459)TAC>TAG		DNA directed RNA polymerase II polypeptide B							174.0	159.0	164.0					4																	57897088		2203	4300	6503	SO:0001587	stop_gained	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57897088C>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3459C>G	4.37:g.57897088C>G	ENSP00000370625:p.Tyr1153*					POLR2B_uc011cae.1_Nonsense_Mutation_p.Y1146*|POLR2B_uc011caf.1_Nonsense_Mutation_p.Y1078*|POLR2B_uc003hcm.1_Nonsense_Mutation_p.Y646*	p.Y1153*	NM_000938	NP_000929	P30876	RPB2_HUMAN			25	3502	+	Glioma(25;0.08)|all_neural(26;0.181)		1153					A8K1A8|Q8IZ61	Nonsense_Mutation	SNP	ENST00000381227.1	37	c.3459C>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	41	9.052930	0.99050	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	6.07	-2.73	0.05950	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4081	0.83697	0.0:0.6056:0.0:0.3944	.	.	.	.	X	1153;1078;1146;1153	.	ENSP00000312735:Y1153X	Y	+	3	2	POLR2B	57591845	0.014000	0.17966	0.861000	0.33841	0.925000	0.55904	-0.943000	0.03917	-1.122000	0.02945	-1.163000	0.01768	TAC		PASS	0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		12	59	12	59	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68930480	68930480	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:68930480C>A	ENST00000356291.2	-	8	997	c.938G>T	c.(937-939)tGc>tTc	p.C313F	UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	313	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.C313F(1)		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						GTCTGGGAGGCAAACTCTCTG	0.378																																						uc003hdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)TGC>TTC		transmembrane protease, serine 11F							66.0	65.0	65.0					4																	68930480		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68930480C>A	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.938G>T	4.37:g.68930480C>A	ENSP00000348639:p.Cys313Phe					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	p.C313F	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			8	987	-			313			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.938G>T	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564105	0.65651	.	.	ENSG00000198092	ENST00000356291	D	0.95137	-3.62	5.92	5.92	0.95590	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000002	D	0.98115	0.9378	H	0.95079	3.62	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	D	0.98853	1.0759	10	0.87932	D	0	.	15.8344	0.78787	0.0:1.0:0.0:0.0	.	313	Q6ZWK6	TM11F_HUMAN	F	313	ENSP00000348639:C313F	ENSP00000348639:C313F	C	-	2	0	TMPRSS11F	68613075	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	4.819000	0.62664	2.822000	0.97130	0.650000	0.86243	TGC		PASS	0.378	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		3	45	3	45	---	---	---	---
ALB	213	broad.mit.edu	37	4	74270121	74270121	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:74270121C>G	ENST00000295897.4	+	1	166	c.77C>G	c.(76-78)gCa>gGa	p.A26G	ALB_ENST00000415165.2_Missense_Mutation_p.A26G|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.A26G|ALB_ENST00000509063.1_Missense_Mutation_p.A26G	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.A26G(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)			CGTCGAGATGCACGTAAGAAA	0.363																																						uc003hgs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(76-78)GCA>GGA		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)						119.0	113.0	115.0					4																	74270121		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.chr4:74270121C>G	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.77C>G	4.37:g.74270121C>G	ENSP00000295897:p.Ala26Gly					ALB_uc003hgw.3_Missense_Mutation_p.A26G|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.A26G|ALB_uc010iii.2_Missense_Mutation_p.A26G|ALB_uc003hgu.3_5'UTR|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_5'Flank	p.A26G	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	150	+	Breast(15;0.00102)		26			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.77C>G	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892079	0.33442	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.74947	-0.89;-0.89;0.06;-0.89;0.34	5.55	5.55	0.83447	Serum albumin, N-terminal (2);	0.596312	0.17108	N	0.186707	T	0.76593	0.4009	M	0.74881	2.28	0.29249	N	0.87212	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.70702	-0.4799	10	0.59425	D	0.04	-7.9052	18.2357	0.89948	0.0:1.0:0.0:0.0	.	26;26;26;26	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	G	28;26;26;26;26;26;26	ENSP00000392541:A28G;ENSP00000295897:A26G;ENSP00000401820:A26G;ENSP00000422784:A26G;ENSP00000384695:A26G	ENSP00000295897:A26G	A	+	2	0	ALB	74488985	0.985000	0.35326	0.904000	0.35570	0.348000	0.29142	2.853000	0.48317	2.885000	0.99019	0.655000	0.94253	GCA		PASS	0.363	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		7	33	7	33	---	---	---	---
HPSE	10855	broad.mit.edu	37	4	84227463	84227463	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:84227463C>G	ENST00000405413.2	-	10	1235	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H	HPSE_ENST00000513463.1_Missense_Mutation_p.D309H|HPSE_ENST00000512196.1_Intron|HPSE_ENST00000311412.5_Missense_Mutation_p.D367H	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	367					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.D367H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	CCCAATTTATCCAGCCACCTG	0.413																																						uc003hoj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1099-1101)GAT>CAT		heparanase precursor	Heparin(DB01109)						95.0	88.0	91.0					4																	84227463		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84227463C>G	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1099G>C	4.37:g.84227463C>G	ENSP00000384262:p.Asp367His					HPSE_uc010ika.2_Missense_Mutation_p.D309H|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_Intron|HPSE_uc011ccs.1_Missense_Mutation_p.D110H|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Missense_Mutation_p.D367H	p.D367H	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	9	1198	-		Hepatocellular(203;0.114)	367	D->A: Strong decrease in heparanase activity.				A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1099G>C	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411046	0.83340	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000454730;ENST00000513463	T;T;T	0.36878	1.23;1.23;1.23	5.08	5.08	0.68730	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.995	T	0.78183	-0.2303	10	0.87932	D	0	-19.7955	18.2572	0.90023	0.0:1.0:0.0:0.0	.	309;309;367	A9JIG7;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	H	367;367;81;309	ENSP00000308107:D367H;ENSP00000384262:D367H;ENSP00000421365:D309H	ENSP00000308107:D367H	D	-	1	0	HPSE	84446487	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.760000	0.74939	2.637000	0.89404	0.491000	0.48974	GAT		PASS	0.413	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		16	65	16	65	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85638087	85638087	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:85638087C>A	ENST00000295888.4	-	49	8244	c.7837G>T	c.(7837-7839)Gat>Tat	p.D2613Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.D2596Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2613	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.D2613Y(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCTTGATATCTTCATATGCA	0.378																																						uc003hpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(7837-7839)GAT>TAT		WD repeat and FYVE domain containing 3 isoform							135.0	140.0	139.0					4																	85638087		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85638087C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7837G>T	4.37:g.85638087C>A	ENSP00000295888:p.Asp2613Tyr					WDFY3_uc003hpe.1_Missense_Mutation_p.D224Y	p.D2613Y	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	49	8245	-		Hepatocellular(203;0.114)	2613					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7837G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449240	0.84101	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.68624	-0.34;-0.34;-0.25	5.08	5.08	0.68730	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	D	0.83667	0.5304	M	0.84846	2.72	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.86538	0.1826	10	0.87932	D	0	.	18.8239	0.92108	0.0:1.0:0.0:0.0	.	2613	Q8IZQ1	WDFY3_HUMAN	Y	2596;2613;216	ENSP00000318466:D2596Y;ENSP00000295888:D2613Y;ENSP00000424987:D216Y	ENSP00000295888:D2613Y	D	-	1	0	WDFY3	85857111	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.519000	0.84933	0.557000	0.71058	GAT		PASS	0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		22	57	22	57	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89679910	89679910	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:89679910C>A	ENST00000264344.5	-	14	1928	c.1721G>T	c.(1720-1722)tGg>tTg	p.W574L	FAM13A_ENST00000503556.1_Missense_Mutation_p.W234L|FAM13A_ENST00000513837.1_Missense_Mutation_p.W220L|FAM13A_ENST00000508369.1_Missense_Mutation_p.W248L|FAM13A_ENST00000511976.1_Missense_Mutation_p.W160L|FAM13A_ENST00000395002.2_Missense_Mutation_p.W248L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	574					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.W248L(1)|p.W574S(1)|p.W574L(1)|p.W248S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTACCTTCCCAGTTCTTTTC	0.448																																						uc003hse.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|liver(1)	2						c.(1720-1722)TGG>TTG		family with sequence similarity 13, member A1							104.0	102.0	103.0					4																	89679910		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89679910C>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1721G>T	4.37:g.89679910C>A	ENSP00000264344:p.Trp574Leu					FAM13A_uc003hsa.1_Missense_Mutation_p.W45L|FAM13A_uc003hsb.1_Missense_Mutation_p.W248L|FAM13A_uc003hsd.1_Missense_Mutation_p.W248L|FAM13A_uc003hsc.1_Missense_Mutation_p.W234L|FAM13A_uc011cdq.1_Missense_Mutation_p.W220L|FAM13A_uc003hsf.1_Missense_Mutation_p.W160L|FAM13A_uc003hsg.1_Missense_Mutation_p.W45L|FAM13A_uc010ikr.1_Missense_Mutation_p.W70L	p.W574L	NM_014883	NP_055698	O94988	FA13A_HUMAN			14	1929	-			574					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1721G>T	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536579	0.85812	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.49720	0.77;2.1;1.41;1.47;1.41;1.42	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.998;0.997;0.997;0.998;0.998;0.999	T	0.53809	-0.8386	10	0.15952	T	0.53	.	19.3137	0.94202	0.0:1.0:0.0:0.0	.	220;253;160;574;248;234;248	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	L	248;574;234;160;248;220	ENSP00000378450:W248L;ENSP00000264344:W574L;ENSP00000427189:W234L;ENSP00000421914:W160L;ENSP00000421562:W248L;ENSP00000423252:W220L	ENSP00000264344:W574L	W	-	2	0	FAM13A	89898933	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.387000	0.73191	2.788000	0.95919	0.650000	0.86243	TGG		PASS	0.448	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			13	39	13	39	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94436380	94436380	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:94436380C>A	ENST00000282020.4	+	13	2269	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	GRID2_ENST00000510992.1_Missense_Mutation_p.L576I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	671					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.L671I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCTCCAGGACCTTTCCAAGCA	0.418																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2011-2013)CTT>ATT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						45.0	44.0	44.0					4																	94436380		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94436380C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2011C>A	4.37:g.94436380C>A	ENSP00000282020:p.Leu671Ile					GRID2_uc011cdu.1_Missense_Mutation_p.L576I	p.L671I	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	13	2269	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	671			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2011C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815251	0.70912	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.52057	0.68;0.68	4.96	4.96	0.65561	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.062472	0.64402	N	0.000006	T	0.76849	0.4045	M	0.92268	3.29	0.80722	D	1	P;D	0.59767	0.916;0.986	D;D	0.76575	0.974;0.988	D	0.83462	0.0054	10	0.87932	D	0	.	18.5496	0.91058	0.0:1.0:0.0:0.0	.	576;671	E9PH24;O43424	.;GRID2_HUMAN	I	671;576	ENSP00000282020:L671I;ENSP00000421257:L576I	ENSP00000282020:L671I	L	+	1	0	GRID2	94655403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.534000	0.45676	2.448000	0.82819	0.585000	0.79938	CTT		PASS	0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	10	5	10	---	---	---	---
RAP1GDS1	5910	broad.mit.edu	37	4	99342542	99342542	+	Silent	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:99342542A>T	ENST00000408927.3	+	12	1550	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	RAP1GDS1_ENST00000453712.2_Silent_p.S479S|RAP1GDS1_ENST00000380158.4_Silent_p.S431S|RAP1GDS1_ENST00000264572.7_Silent_p.S388S|RAP1GDS1_ENST00000408900.3_Silent_p.S430S|RAP1GDS1_ENST00000339360.5_Silent_p.S480S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	479					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.S479S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		ACAGTAAATCAAAAGTAAGTT	0.433			T	NUP98	T-ALL																																	uc003htx.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1435-1437)TCA>TCT		RAP1, GTP-GDP dissociation stimulator 1 isoform							71.0	69.0	69.0					4																	99342542		1910	4112	6022	SO:0001819	synonymous_variant	5910						binding|GTPase activator activity	g.chr4:99342542A>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1437A>T	4.37:g.99342542A>T						RAP1GDS1_uc003htw.3_Silent_p.S480S|RAP1GDS1_uc003htv.3_Silent_p.S479S|RAP1GDS1_uc003htz.3_Silent_p.S430S|RAP1GDS1_uc003hty.3_Silent_p.S431S|RAP1GDS1_uc003hua.3_Silent_p.S388S	p.S479S	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	12	1627	+			479			ARM 5.		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	ENST00000408927.3	37	c.1437A>T	CCDS43253.1																																																																																				PASS	0.433	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		3	22	3	22	---	---	---	---
AIMP1	9255	broad.mit.edu	37	4	107252864	107252864	+	Missense_Mutation	SNP	G	G	C	rs185378147		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:107252864G>C	ENST00000442366.1	+	5	479	c.427G>C	c.(427-429)Gga>Cga	p.G143R	AIMP1_ENST00000358008.3_Missense_Mutation_p.G143R|AIMP1_ENST00000394701.4_Missense_Mutation_p.G167R	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	143	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.G143R(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						ATCAATAGCTGGAAGTGCCGA	0.368																																						uc011cfg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GGA>CGA		small inducible cytokine subfamily E, member 1							124.0	132.0	129.0					4																	107252864		2203	4300	6503	SO:0001583	missense	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107252864G>C	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.427G>C	4.37:g.107252864G>C	ENSP00000405248:p.Gly143Arg					AIMP1_uc003hyg.2_Missense_Mutation_p.G143R|AIMP1_uc003hyh.2_Missense_Mutation_p.G167R	p.G143R	NM_001142415	NP_001135887	Q12904	AIMP1_HUMAN			5	479	+			143			Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	37	c.427G>C	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.658883	0.29515	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000358008;ENST00000394701	T;T;T;T	0.24908	1.83;1.88;1.88;1.86	5.23	5.23	0.72850	.	0.782790	0.12138	N	0.496126	T	0.31104	0.0786	L	0.60455	1.87	0.27835	N	0.941308	B	0.14012	0.009	B	0.09377	0.004	T	0.11792	-1.0573	10	0.36615	T	0.2	-31.6133	17.7762	0.88508	0.0:0.0:1.0:0.0	.	143	Q12904	AIMP1_HUMAN	R	143;143;143;167	ENSP00000423681:G143R;ENSP00000405248:G143R;ENSP00000350699:G143R;ENSP00000378191:G167R	ENSP00000350699:G143R	G	+	1	0	AIMP1	107472313	1.000000	0.71417	0.972000	0.41901	0.034000	0.12701	2.984000	0.49353	2.444000	0.82710	0.650000	0.86243	GGA		PASS	0.368	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		31	43	31	43	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128584544	128584544	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:128584544G>T	ENST00000335251.6	+	4	880	c.777G>T	c.(775-777)ctG>ctT	p.L259L	INTU_ENST00000296461.5_Silent_p.L259L	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	259	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.L259L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGGTGAAACTGACATTTGAAA	0.393																																						uc003ifk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(775-777)CTG>CTT		PDZ domain containing 6							69.0	69.0	69.0					4																	128584544		2202	4300	6502	SO:0001819	synonymous_variant	27152							g.chr4:128584544G>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.777G>T	4.37:g.128584544G>T						INTU_uc011cgq.1_RNA	p.L259L	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			4	847	+			259			PDZ.		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.777G>T	CCDS34061.1																																																																																				PASS	0.393	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		3	10	3	10	---	---	---	---
CPE	1363	broad.mit.edu	37	4	166300542	166300542	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:166300542C>A	ENST00000402744.4	+	1	449	c.169C>A	c.(169-171)Ccc>Acc	p.P57T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	57					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.P57T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCACCGCTACCCCGAGCTGCG	0.726																																						uc003irg.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(169-171)CCC>ACC		carboxypeptidase E preproprotein	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						12.0	13.0	12.0					4																	166300542		2174	4247	6421	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166300542C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.169C>A	4.37:g.166300542C>A	ENSP00000386104:p.Pro57Thr						p.P57T	NM_001873	NP_001864	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	1	446	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	57					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.169C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069557	0.36470	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.03212	4.01	4.06	4.06	0.47325	.	0.331344	0.31821	N	0.007001	T	0.02380	0.0073	N	0.08118	0	0.40323	D	0.978841	B	0.13594	0.008	B	0.06405	0.002	T	0.55464	-0.8137	10	0.24483	T	0.36	1.7153	13.0542	0.58971	0.0:0.8371:0.1629:0.0	.	57	P16870	CBPE_HUMAN	T	57;21	ENSP00000386104:P57T	ENSP00000261510:P21T	P	+	1	0	CPE	166519992	1.000000	0.71417	0.989000	0.46669	0.833000	0.47200	4.411000	0.59781	2.089000	0.63090	0.305000	0.20034	CCC		PASS	0.726	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		6	7	6	7	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175896968	175896968	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:175896968A>T	ENST00000359240.3	+	5	962	c.292A>T	c.(292-294)Aat>Tat	p.N98Y	ADAM29_ENST00000445694.1_Missense_Mutation_p.N98Y|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.N98Y|ADAM29_ENST00000404450.4_Missense_Mutation_p.N98Y	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	98					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N98Y(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)		ATTTGTCCAGAATAACTGCTA	0.443																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(292-294)AAT>TAT		ADAM metallopeptidase domain 29 preproprotein							54.0	55.0	54.0					4																	175896968		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896968A>T	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.292A>T	4.37:g.175896968A>T	ENSP00000352177:p.Asn98Tyr					ADAM29_uc003iud.2_Missense_Mutation_p.N98Y|ADAM29_uc010irr.2_Missense_Mutation_p.N98Y|ADAM29_uc011cki.1_Missense_Mutation_p.N98Y	p.N98Y	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	962	+		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)	98					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.292A>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531328	0.45073	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	3.77	-0.926	0.10455	Peptidase M12B, propeptide (1);	0.915941	0.08907	U	0.876350	T	0.16128	0.0388	M	0.67569	2.06	0.09310	N	1	D	0.69078	0.997	D	0.67103	0.949	T	0.17198	-1.0377	9	.	.	.	.	3.4525	0.07503	0.4665:0.2124:0.3211:0.0	.	98	Q9UKF5	ADA29_HUMAN	Y	98	ENSP00000352177:N98Y;ENSP00000414544:N98Y;ENSP00000384229:N98Y;ENSP00000423517:N98Y	.	N	+	1	0	ADAM29	176133543	0.000000	0.05858	0.004000	0.12327	0.750000	0.42670	-0.174000	0.09839	-0.129000	0.11620	0.519000	0.50382	AAT		PASS	0.443	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				13	35	13	35	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183714971	183714971	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:183714971T>A	ENST00000511685.1	+	26	7269	c.7146T>A	c.(7144-7146)ttT>ttA	p.F2382L	TENM3_ENST00000406950.2_Missense_Mutation_p.F2382L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2382					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.F2382L(1)									CAGCTCCTTTTAACTTGTACA	0.413																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(7144-7146)TTT>TTA		odz, odd Oz/ten-m homolog 3							61.0	58.0	59.0					4																	183714971		1843	4083	5926	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714971T>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.7146T>A	4.37:g.183714971T>A	ENSP00000424226:p.Phe2382Leu						p.F2382L	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	7183	+		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)	2382			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7146T>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840831	0.51057	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85088	-1.94;-1.94	4.87	2.43	0.29744	Rhs repeat-associated core (1);	.	.	.	.	D	0.85860	0.5795	L	0.46947	1.48	0.54753	D	0.999989	P	0.52842	0.956	P	0.62184	0.899	T	0.80276	-0.1450	9	0.23302	T	0.38	.	8.528	0.33317	0.0:0.2976:0.0:0.7024	.	2382	Q9P273	TEN3_HUMAN	L	2382	ENSP00000424226:F2382L;ENSP00000385276:F2382L	ENSP00000385276:F2382L	F	+	3	2	ODZ3	183951965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.240000	0.32731	0.442000	0.26555	0.533000	0.62120	TTT		PASS	0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			10	18	10	18	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187542483	187542483	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr4:187542483C>A	ENST00000441802.2	-	10	5466	c.5257G>T	c.(5257-5259)Gtt>Ttt	p.V1753F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1753	Cadherin 15. {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.V1753F(1)|p.V1756F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCAAGTGAACTAGAACCGTT	0.423										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.(5257-5259)GTT>TTT		FAT tumor suppressor 1 precursor							108.0	102.0	104.0					4																	187542483		1930	4138	6068	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.chr4:187542483C>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.5257G>T	4.37:g.187542483C>A	ENSP00000406229:p.Val1753Phe	HNSCC(5;0.00058)					p.V1753F	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	5445	-			1753			Extracellular (Potential).|Cadherin 15.			Missense_Mutation	SNP	ENST00000441802.2	37	c.5257G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851855	0.32699	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.61742	0.08	5.5	5.5	0.81552	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.115887	0.64402	D	0.000017	D	0.84361	0.5455	H	0.96805	3.885	0.58432	D	0.999999	D	0.60575	0.988	D	0.67900	0.954	D	0.88713	0.3224	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1753	Q14517	FAT1_HUMAN	F	1753;1755	ENSP00000406229:V1753F	ENSP00000260147:V1755F	V	-	1	0	FAT1	187779477	0.998000	0.40836	0.770000	0.31555	0.002000	0.02628	3.607000	0.54102	2.861000	0.98227	0.655000	0.94253	GTT		PASS	0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	48	14	48	---	---	---	---
TRIP13	9319	broad.mit.edu	37	5	912047	912047	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:912047T>A	ENST00000166345.3	+	10	1312	c.956T>A	c.(955-957)aTt>aAt	p.I319N		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	319					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.I319N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AAGCAGTACATTGGGCCACCC	0.458																																						uc003jbr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)ATT>AAT		thyroid hormone receptor interactor 13							190.0	156.0	168.0					5																	912047		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:912047T>A	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.956T>A	5.37:g.912047T>A	ENSP00000166345:p.Ile319Asn						p.I319N	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		10	1066	+			319					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.956T>A	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	19.53	3.844166	0.71488	.	.	ENSG00000071539	ENST00000166345	D	0.95554	-3.74	5.78	5.78	0.91487	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.92833	3.35	0.80722	D	1	D	0.64830	0.994	D	0.68353	0.957	D	0.99222	1.0879	10	0.87932	D	0	-13.061	15.7705	0.78164	0.0:0.0:0.0:1.0	.	319	Q15645	PCH2_HUMAN	N	319	ENSP00000166345:I319N	ENSP00000166345:I319N	I	+	2	0	TRIP13	965047	1.000000	0.71417	0.728000	0.30774	0.415000	0.31203	7.402000	0.79972	2.198000	0.70561	0.533000	0.62120	ATT		PASS	0.458	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		21	121	21	121	---	---	---	---
TERT	7015	broad.mit.edu	37	5	1254487	1254487	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:1254487C>A	ENST00000310581.5	-	15	3348	c.3291G>T	c.(3289-3291)agG>agT	p.R1097S	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.R1034S	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1097	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.R1085S(1)|p.R1097S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	ACTTGCCTGTCCTGAGTGACC	0.647									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(3289-3291)AGG>AGT		telomerase reverse transcriptase isoform 1							53.0	62.0	59.0					5																	1254487		2099	4226	6325	SO:0001583	missense	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1254487C>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3291G>T	5.37:g.1254487C>A	ENSP00000309572:p.Arg1097Ser					TERT_uc003jbz.1_Missense_Mutation_p.R293S|TERT_uc003jca.1_Missense_Mutation_p.R1085S|TERT_uc003jcc.1_Missense_Mutation_p.R1034S|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.R1097S	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		15	3349	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1097			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.3291G>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	c	6.635	0.485681	0.12641	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96774	-4.12;-4.01	4.22	1.81	0.25067	.	0.446678	0.25369	N	0.031180	D	0.92427	0.7596	M	0.72479	2.2	0.09310	N	0.999999	B;B	0.31817	0.341;0.323	B;B	0.27380	0.058;0.079	T	0.82540	-0.0406	10	0.23891	T	0.37	-15.7252	2.799	0.05409	0.0:0.4745:0.2899:0.2355	.	1034;1097	O14746-3;O14746	.;TERT_HUMAN	S	1097;1034	ENSP00000309572:R1097S;ENSP00000334346:R1034S	ENSP00000309572:R1097S	R	-	3	2	TERT	1307487	0.001000	0.12720	0.020000	0.16555	0.085000	0.17905	0.310000	0.19356	0.836000	0.34901	0.436000	0.28706	AGG		PASS	0.647	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			12	78	12	78	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5235235	5235235	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:5235235C>T	ENST00000274181.7	+	13	2097	c.1959C>T	c.(1957-1959)gcC>gcT	p.A653A	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	653	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A653A(4)		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						CTCAGTGTGCCGAGCACAACA	0.522																																						uc003jdl.2																			4	Substitution - coding silent(4)	p.A653A(2)	ovary(2)|lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1957-1959)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							76.0	80.0	78.0					5																	5235235		1955	4151	6106	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235235C>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.1959C>T	5.37:g.5235235C>T						ADAMTS16_uc003jdk.1_Silent_p.A653A|ADAMTS16_uc010itk.1_RNA	p.A653A	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			13	2097	+			653			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1959C>T	CCDS43299.1																																																																																				PASS	0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		14	70	14	70	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13870880	13870880	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:13870880A>G	ENST00000265104.4	-	24	3934	c.3830T>C	c.(3829-3831)aTt>aCt	p.I1277T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1277	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1277T(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)					AGTTACCTCAATAGGTCCTAC	0.368									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3829-3831)ATT>ACT		dynein, axonemal, heavy chain 5							61.0	58.0	59.0					5																	13870880		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.chr5:13870880A>G	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.3830T>C	5.37:g.13870880A>G	ENSP00000265104:p.Ile1277Thr						p.I1277T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			24	3872	-	Lung NSC(4;0.00476)		1277			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3830T>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181386	0.57800	.	.	ENSG00000039139	ENST00000265104	T	0.26518	1.73	5.58	5.58	0.84498	.	0.155728	0.53938	D	0.000053	T	0.53948	0.1828	M	0.92691	3.335	0.80722	D	1	P	0.41643	0.758	P	0.51101	0.659	T	0.64968	-0.6282	10	0.87932	D	0	.	15.7563	0.78030	1.0:0.0:0.0:0.0	.	1277	Q8TE73	DYH5_HUMAN	T	1277	ENSP00000265104:I1277T	ENSP00000265104:I1277T	I	-	2	0	DNAH5	13923880	1.000000	0.71417	0.698000	0.30274	0.390000	0.30446	8.924000	0.92827	2.111000	0.64477	0.533000	0.62120	ATT		PASS	0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		19	54	19	54	---	---	---	---
OTULIN	90268	broad.mit.edu	37	5	14693114	14693114	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:14693114A>T	ENST00000284274.4	+	7	1094	c.1016A>T	c.(1015-1017)cAc>cTc	p.H339L		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		339	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.H339L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GACGATCGGCACTATAACATC	0.572																																						uc003jfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1015-1017)CAC>CTC		hypothetical protein LOC90268							55.0	59.0	58.0					5																	14693114		2150	4253	6403	SO:0001583	missense	90268							g.chr5:14693114A>T																												ENST00000284274.4:c.1016A>T	5.37:g.14693114A>T	ENSP00000284274:p.His339Leu						p.H339L	NM_138348	NP_612357	Q96BN8	F105B_HUMAN			7	1168	+	Lung NSC(4;0.00696)		339					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.1016A>T	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	32	5.160604	0.94727	.	.	ENSG00000154124	ENST00000284274	T	0.19250	2.16	5.87	5.87	0.94306	.	0.047223	0.85682	D	0.000000	T	0.39226	0.1070	M	0.75777	2.31	0.80722	D	1	D	0.57571	0.98	P	0.52424	0.698	T	0.32745	-0.9895	10	0.87932	D	0	-29.2508	15.4486	0.75253	1.0:0.0:0.0:0.0	.	339	Q96BN8	F105B_HUMAN	L	339	ENSP00000284274:H339L	ENSP00000284274:H339L	H	+	2	0	FAM105B	14746114	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.935000	0.92923	2.242000	0.73789	0.533000	0.62120	CAC		PASS	0.572	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			6	30	6	30	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19544051	19544051	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:19544051G>T	ENST00000507958.1	-	11	2307	c.1317C>A	c.(1315-1317)acC>acA	p.T439T	CDH18_ENST00000502796.1_Silent_p.T439T|CDH18_ENST00000506372.1_Silent_p.T439T|CDH18_ENST00000274170.4_Silent_p.T439T|CDH18_ENST00000511273.1_Silent_p.T439T|CDH18_ENST00000382275.1_Silent_p.T439T			Q13634	CAD18_HUMAN	cadherin 18, type 2	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T439T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAGTCCTAATGGTCCCAGTAT	0.348																																						uc003jgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1315-1317)ACC>ACA		cadherin 18, type 2 preproprotein							134.0	127.0	129.0					5																	19544051		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544051G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1317C>A	5.37:g.19544051G>T						CDH18_uc003jgd.2_Silent_p.T439T|CDH18_uc011cnm.1_Silent_p.T439T	p.T439T	NM_004934	NP_004925	Q13634	CAD18_HUMAN			8	1694	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		439			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.1317C>A	CCDS3889.1																																																																																				PASS	0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		17	86	17	86	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38406999	38406999	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:38406999T>A	ENST00000354891.3	+	8	1244	c.898T>A	c.(898-900)Tct>Act	p.S300T	EGFLAM_ENST00000322350.5_Missense_Mutation_p.S300T|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S66T|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	300					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S300T(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATGTCTATATCTAACCCAAA	0.478																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(898-900)TCT>ACT		EGF-like, fibronectin type III and laminin G							140.0	133.0	136.0					5																	38406999		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38406999T>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.898T>A	5.37:g.38406999T>A	ENSP00000346964:p.Ser300Thr					EGFLAM_uc003jlb.1_Missense_Mutation_p.S300T|EGFLAM_uc003jle.1_Missense_Mutation_p.S66T|EGFLAM_uc003jlf.1_Intron	p.S300T	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			8	1222	+	all_lung(31;0.000385)		300					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.898T>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577703	0.28180	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.81078	0.74;0.57;-1.45	5.37	1.6	0.23607	.	0.532850	0.20615	N	0.088881	T	0.73659	0.3615	M	0.67953	2.075	0.80722	D	1	B;P;P	0.40660	0.328;0.605;0.726	B;B;B	0.41174	0.092;0.19;0.349	T	0.65611	-0.6126	10	0.41790	T	0.15	-11.9373	1.9228	0.03311	0.132:0.1429:0.1378:0.5872	.	66;300;300	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	T	300;300;66;66	ENSP00000346964:S300T;ENSP00000313084:S300T;ENSP00000337607:S66T	ENSP00000313084:S300T	S	+	1	0	EGFLAM	38442756	0.168000	0.22989	0.072000	0.20136	0.415000	0.31203	1.271000	0.33098	0.042000	0.15717	0.533000	0.62120	TCT		PASS	0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		18	114	18	114	---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43543192	43543192	+	Silent	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:43543192A>G	ENST00000306846.3	-	4	880	c.648T>C	c.(646-648)taT>taC	p.Y216Y	PAIP1_ENST00000436644.2_Silent_p.Y137Y|PAIP1_ENST00000338972.4_Silent_p.Y104Y|PAIP1_ENST00000514514.1_Silent_p.Y137Y	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	216	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.Y216Y(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GAGCTCCCATATAAGAGAAAT	0.373																																						uc003job.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(646-648)TAT>TAC		poly(A) binding protein interacting protein 1							67.0	70.0	69.0					5																	43543192		2203	4300	6503	SO:0001819	synonymous_variant	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43543192A>G	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.648T>C	5.37:g.43543192A>G						PAIP1_uc003joa.2_Silent_p.Y137Y|PAIP1_uc010ivp.2_Silent_p.Y137Y|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Silent_p.Y104Y	p.Y216Y	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			4	895	-	Lung NSC(6;2.07e-05)		216			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	c.648T>C	CCDS3947.1																																																																																				PASS	0.373	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		12	58	12	58	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45267348	45267348	+	Nonsense_Mutation	SNP	G	G	T	rs150863293	byFrequency	TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:45267348G>T	ENST00000303230.4	-	7	1683	c.1626C>A	c.(1624-1626)tgC>tgA	p.C542*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	542					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.C542*(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						TGGTCAGCAGGCAAATCTCTA	0.398																																						uc003jok.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1624-1626)TGC>TGA		hyperpolarization activated cyclic							92.0	86.0	88.0					5																	45267348		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267348G>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.1626C>A	5.37:g.45267348G>T	ENSP00000307342:p.Cys542*						p.C542*	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1651	-			542			cAMP.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.1626C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733646	0.97796	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.82	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6377	0.56692	0.135:0.0:0.865:0.0	.	.	.	.	X	542	.	ENSP00000307342:C542X	C	-	3	2	HCN1	45303105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.960000	0.49161	0.803000	0.34113	0.591000	0.81541	TGC		PASS	0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		11	71	11	71	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61923060	61923060	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:61923060T>C	ENST00000325324.6	+	30	3012	c.2843T>C	c.(2842-2844)cTa>cCa	p.L948P	IPO11_ENST00000409296.3_Missense_Mutation_p.L988P|IPO11_ENST00000512177.1_3'UTR|IPO11_ENST00000409534.1_Missense_Mutation_p.L67P	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	948					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.L948P(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)		CAGGAGATGCTAGGAGAACAA	0.502																																						uc003jtc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)	4						c.(2842-2844)CTA>CCA		Ran binding protein 11 isoform 2							127.0	125.0	126.0					5																	61923060		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61923060T>C	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.2843T>C	5.37:g.61923060T>C	ENSP00000316651:p.Leu948Pro					IPO11_uc011cqr.1_Missense_Mutation_p.L988P|IPO11_uc010iwr.2_3'UTR|IPO11_uc003jte.2_Missense_Mutation_p.L67P	p.L948P	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	30	3033	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	948					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.2843T>C	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269211	0.59540	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000409534	T;T;T	0.68903	-0.36;-0.36;-0.36	4.69	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.076392	0.52532	D	0.000064	T	0.70202	0.3197	L	0.34521	1.04	0.80722	D	1	D;D	0.62365	0.991;0.971	P;P	0.62089	0.898;0.646	T	0.69614	-0.5098	10	0.36615	T	0.2	.	14.3044	0.66375	0.0:0.0:0.0:1.0	.	988;948	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	P	948;988;67	ENSP00000316651:L948P;ENSP00000386992:L988P;ENSP00000387039:L67P	ENSP00000316651:L948P	L	+	2	0	IPO11	61958816	1.000000	0.71417	0.299000	0.25016	0.854000	0.48673	7.429000	0.80309	1.965000	0.57142	0.455000	0.32223	CTA		PASS	0.502	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		15	19	15	19	---	---	---	---
APC	324	broad.mit.edu	37	5	112154688	112154688	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:112154688C>G	ENST00000457016.1	+	10	1339	c.959C>G	c.(958-960)tCa>tGa	p.S320*	APC_ENST00000257430.4_Nonsense_Mutation_p.S320*|APC_ENST00000508376.2_Nonsense_Mutation_p.S320*			P25054	APC_HUMAN	adenomatous polyposis coli	320	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S320*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCATTGTTGTCAATGCTTGGT	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Substitution - Nonsense(1)		lung(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CM042290	APC	M		c.(958-960)TCA>TGA		adenomatous polyposis coli							203.0	181.0	189.0					5																	112154688		2202	4300	6502	SO:0001587	stop_gained	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154688C>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.959C>G	5.37:g.112154688C>G	ENSP00000413133:p.Ser320*	TSP Lung(16;0.13)				APC_uc011cvt.1_Nonsense_Mutation_p.S302*|APC_uc003kpz.3_Nonsense_Mutation_p.S320*|APC_uc003kpy.3_Nonsense_Mutation_p.S320*|APC_uc010jbz.2_Nonsense_Mutation_p.S37*|APC_uc010jca.2_5'Flank	p.S320*	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1339	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	320			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.959C>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	39	7.319637	0.98210	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.9127	19.942	0.97168	0.0:1.0:0.0:0.0	.	.	.	.	X	320;302;320;320;320	.	ENSP00000257430:S320X	S	+	2	0	APC	112182587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.718000	0.92993	0.644000	0.83932	TCA		PASS	0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		41	57	41	57	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141329130	141329130	+	Silent	SNP	T	T	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:141329130T>G	ENST00000231484.3	-	3	4207	c.2997A>C	c.(2995-2997)acA>acC	p.T999T	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	999					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.T999T(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)			TTGGGCCATCTGTGTCTGGGA	0.502																																						uc003llx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2995-2997)ACA>ACC		protocadherin 12 precursor							125.0	118.0	120.0					5																	141329130		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141329130T>G	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.2997A>C	5.37:g.141329130T>G							p.T999T	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	4208	-		all_hematologic(541;0.0999)	999			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.2997A>C	CCDS4269.1																																																																																				PASS	0.502	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		48	33	48	33	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413911	178413911	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr5:178413911C>A	ENST00000517717.1	-	8	1466	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.Q476H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	476					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.Q476H(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)		CATTGGTCGCCTGGTACTGGA	0.632																																						uc003mjr.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1426-1428)CAG>CAT		glutamate receptor, metabotropic 6 precursor							80.0	64.0	70.0					5																	178413911		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413911C>A	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.1428G>T	5.37:g.178413911C>A	ENSP00000430767:p.Gln476His					GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.Q59H|GRM6_uc003mjs.1_Missense_Mutation_p.Q96H	p.Q476H	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)	7	1607	-	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)	476			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.1428G>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522187	0.44866	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83673	-1.75;-1.75	4.74	1.85	0.25348	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.88250	0.6386	M	0.74881	2.28	0.37733	D	0.925331	D;B	0.65815	0.995;0.071	D;B	0.77004	0.989;0.213	D	0.85931	0.1452	9	0.31617	T	0.26	.	9.454	0.38743	0.0:0.7372:0.0:0.2628	.	604;476	E7EX65;O15303	.;GRM6_HUMAN	H	604;476;476	ENSP00000231188:Q476H;ENSP00000430767:Q476H	ENSP00000231188:Q476H	Q	-	3	2	GRM6	178346517	0.134000	0.22483	0.963000	0.40424	0.557000	0.35523	-0.191000	0.09601	0.503000	0.28060	0.462000	0.41574	CAG		PASS	0.632	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			8	9	8	9	---	---	---	---
HIST1H1E	3008	broad.mit.edu	37	6	26157147	26157147	+	Nonsense_Mutation	SNP	A	A	T	rs541188687		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:26157147A>T	ENST00000304218.3	+	1	589	c.529A>T	c.(529-531)Aaa>Taa	p.K177*	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	177					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.K177*(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GAAAAAGGCGAAAGCAGCCAA	0.582																																						uc003ngq.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(529-531)AAA>TAA		histone cluster 1, H1e							19.0	22.0	21.0					6																	26157147		2195	4292	6487	SO:0001587	stop_gained	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157147A>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.529A>T	6.37:g.26157147A>T	ENSP00000307705:p.Lys177*					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.K177*	NM_005321	NP_005312	P10412	H14_HUMAN			1	589	+			177					Q4VB25	Nonsense_Mutation	SNP	ENST00000304218.3	37	c.529A>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.846319	0.91277	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.49	5.49	0.81192	.	0.498004	0.17770	N	0.162630	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3824	15.0568	0.71921	1.0:0.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000307705:K177X	K	+	1	0	HIST1H1E	26265126	1.000000	0.71417	0.849000	0.33467	0.739000	0.42172	5.079000	0.64431	2.198000	0.70561	0.533000	0.62120	AAA		PASS	0.582	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		6	13	6	13	---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26507025	26507025	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:26507025G>T	ENST00000244513.6	+	4	890	c.824G>T	c.(823-825)aGa>aTa	p.R275I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	275						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R275I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TACAACGAAAGACCCAGAGAG	0.488																																						uc003nif.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(823-825)AGA>ATA		butyrophilin, subfamily 1, member A1 precursor							182.0	183.0	182.0					6																	26507025		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26507025G>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.824G>T	6.37:g.26507025G>T	ENSP00000244513:p.Arg275Ile						p.R275I	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			4	844	+			275			Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.824G>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139169	0.21205	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.37235	1.21	5.27	3.08	0.35506	.	0.111526	0.40728	N	0.001032	T	0.14874	0.0359	M	0.63843	1.955	0.43667	D	0.996098	P	0.38473	0.633	B	0.27076	0.076	T	0.08330	-1.0727	10	0.87932	D	0	.	5.9088	0.19016	0.2659:0.0:0.7341:0.0	.	275	Q13410	BT1A1_HUMAN	I	275	ENSP00000244513:R275I	ENSP00000244513:R275I	R	+	2	0	BTN1A1	26615004	0.995000	0.38212	0.676000	0.29932	0.022000	0.10575	1.614000	0.36911	1.345000	0.45676	0.563000	0.77884	AGA		PASS	0.488	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		39	106	39	106	---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879591	27879591	+	Silent	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:27879591A>G	ENST00000303324.2	-	1	583	c.507T>C	c.(505-507)tgT>tgC	p.C169C		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C169C(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CTTTGTGACCACACAGTGGCA	0.473																																						uc011dkw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(505-507)TGT>TGC		olfactory receptor, family 2, subfamily B,							89.0	83.0	85.0					6																	27879591		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879591A>G	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.507T>C	6.37:g.27879591A>G							p.C169C	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	507	-			169			Extracellular (Potential).		B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.507T>C	CCDS4641.1																																																																																				PASS	0.473	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			19	51	19	51	---	---	---	---
ZSCAN9	7746	broad.mit.edu	37	6	28195519	28195519	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:28195519C>T	ENST00000252207.5	+	3	620	c.472C>T	c.(472-474)Cta>Tta	p.L158L	ZSCAN9_ENST00000531979.1_Silent_p.L158L|ZSCAN9_ENST00000527436.1_Silent_p.L158L|ZSCAN9_ENST00000425468.2_Silent_p.L158L|ZSCAN9_ENST00000531981.1_3'UTR	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	158					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.L158V(1)|p.L158L(1)									GATGGTGCCTCTAGCAGAGCA	0.483																																						uc003nkq.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)		0						c.(472-474)CTA>TTA		zinc finger protein 193							71.0	65.0	67.0					6																	28195519		2203	4300	6503	SO:0001819	synonymous_variant	7746				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28195519C>T	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.472C>T	6.37:g.28195519C>T						ZNF193_uc003nkr.1_Silent_p.L158L|ZNF193_uc010jqz.1_Silent_p.L158L	p.L158L	NM_006299	NP_006290	O15535	ZN193_HUMAN			3	587	+			158					B4E1W6|E7EVQ2|Q2TTR1	Silent	SNP	ENST00000252207.5	37	c.472C>T	CCDS4646.1																																																																																				PASS	0.483	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		7	17	7	17	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30672865	30672865	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:30672865T>C	ENST00000376406.3	-	10	4742	c.4095A>G	c.(4093-4095)tcA>tcG	p.S1365S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.S1101S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1365	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.S1365S(1)		breast(2)|kidney(1)|ovary(1)	4						TAGGGACAGTTGATTCAGGGT	0.537								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(4093-4095)TCA>TCG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							143.0	150.0	147.0					6																	30672865		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.chr6:30672865T>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.4095A>G	6.37:g.30672865T>C						MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.S972S	p.S1365S	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4535	-			1365			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.4095A>G	CCDS34384.1																																																																																				PASS	0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		25	57	25	57	---	---	---	---
MDGA1	266727	broad.mit.edu	37	6	37605156	37605156	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:37605156C>T	ENST00000434837.3	-	17	4034	c.2856G>A	c.(2854-2856)gcG>gcA	p.A952A	MDGA1_ENST00000297153.7_Silent_p.A956A	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	952					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.A954A(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATCTCTGCAACGCCAAGAGGA	0.637																																						uc003onu.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(2854-2856)GCG>GCA		MAM domain containing							41.0	46.0	45.0					6																	37605156		2037	4177	6214	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37605156C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2856G>A	6.37:g.37605156C>T						MDGA1_uc003onv.1_3'UTR	p.A952A	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			17	4035	-			952					A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.2856G>A	CCDS47417.1																																																																																				PASS	0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			6	24	6	24	---	---	---	---
TINAG	27283	broad.mit.edu	37	6	54216195	54216195	+	Splice_Site	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:54216195G>T	ENST00000259782.4	+	8	1222	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	376					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A376S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ACCAGTTCAAGGTAAGCTTGA	0.294																																						uc003pcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1126-1128)GCC>TCC		tubulointerstitial nephritis antigen							96.0	95.0	95.0					6																	54216195		2202	4294	6496	SO:0001630	splice_region_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54216195G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1126+1G>T	6.37:g.54216195G>T						TINAG_uc010jzt.2_RNA	p.A376S	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		8	1272	+	Lung NSC(77;0.0518)		376					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1126G>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899804	0.52227	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.87966	-2.32	5.08	5.08	0.68730	Peptidase C1A, papain C-terminal (2);	0.092055	0.47455	D	0.000222	D	0.85164	0.5634	M	0.80422	2.495	0.80722	D	1	B	0.22800	0.075	B	0.25291	0.059	D	0.84984	0.0890	10	0.72032	D	0.01	.	17.4166	0.87502	0.0:0.0:1.0:0.0	.	376	Q9UJW2	TINAG_HUMAN	S	235;376;55	ENSP00000259782:A376S	ENSP00000259782:A376S	A	+	1	0	TINAG	54324154	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.338000	0.79269	2.498000	0.84270	0.655000	0.94253	GCC		PASS	0.294	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	Missense_Mutation	5	8	5	8	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129621881	129621881	+	Splice_Site	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:129621881C>G	ENST00000421865.2	+	22	3087	c.3038C>G	c.(3037-3039)gCt>gGt	p.A1013G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1013	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.A1013G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCGGTGAAGCTTGTGAATGT	0.378																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(3037-3039)GCT>GGT		laminin alpha 2 subunit isoform a precursor							98.0	99.0	99.0					6																	129621881		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129621881C>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3038-1C>G	6.37:g.129621881C>G						LAMA2_uc003qbo.2_Missense_Mutation_p.A1013G	p.A1013G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	22	3143	+			1013			Laminin EGF-like 10.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3038C>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675015	0.67928	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.54071	0.59	5.54	5.54	0.83059	EGF-like, laminin (2);	0.142991	0.46758	D	0.000271	T	0.39384	0.1076	L	0.59967	1.855	0.53688	D	0.999973	B;B	0.25563	0.129;0.129	B;B	0.25140	0.058;0.058	T	0.26643	-1.0097	9	.	.	.	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	1013;1013	A6NF00;P24043	.;LAMA2_HUMAN	G	1013	ENSP00000400365:A1013G	.	A	+	2	0	LAMA2	129663574	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.487000	0.81328	2.607000	0.88179	0.585000	0.79938	GCT		PASS	0.378	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Missense_Mutation	15	37	15	37	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131225639	131225639	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:131225639G>T	ENST00000337057.3	-	6	1076	c.895C>A	c.(895-897)Cct>Act	p.P299T	EPB41L2_ENST00000392427.3_Missense_Mutation_p.P299T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.P299T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.P299T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P299T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P299T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.P299T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P299T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P299T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P299T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.P299T|EPB41L2_ENST00000530148.1_5'UTR	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.P299T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GAAGGATCAGGAGGATAAAAC	0.343																																						uc003qch.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(895-897)CCT>ACT		erythrocyte membrane protein band 4.1-like 2							95.0	97.0	96.0					6																	131225639		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131225639G>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.895C>A	6.37:g.131225639G>T	ENSP00000338481:p.Pro299Thr					EPB41L2_uc003qcg.1_Missense_Mutation_p.P299T|EPB41L2_uc011eby.1_Missense_Mutation_p.P299T|EPB41L2_uc003qci.2_Missense_Mutation_p.P299T|EPB41L2_uc010kfk.2_Missense_Mutation_p.P299T|EPB41L2_uc010kfl.1_Missense_Mutation_p.P299T	p.P299T	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	6	1077	-	Breast(56;0.0639)		299			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.895C>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734302	0.89482	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.73	5.73	0.89815	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.051154	0.85682	D	0.000000	D	0.84447	0.5474	M	0.82716	2.605	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	0.87578	0.995;0.995;0.995;0.998;0.995	D	0.85576	0.1237	10	0.72032	D	0.01	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	299;299;299;299;299	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	T	299	ENSP00000434308:P299T;ENSP00000434576:P299T;ENSP00000402041:P299T;ENSP00000338481:P299T;ENSP00000376222:P299T;ENSP00000357110:P299T;ENSP00000436348:P299T;ENSP00000432803:P299T;ENSP00000431988:P299T;ENSP00000431647:P299T;ENSP00000436641:P299T	ENSP00000338481:P299T	P	-	1	0	EPB41L2	131267332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.698000	0.92095	0.655000	0.94253	CCT		PASS	0.343	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			15	12	15	12	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138640890	138640890	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:138640890T>C	ENST00000251691.4	+	28	4691	c.4525T>C	c.(4525-4527)Tcc>Ccc	p.S1509P		NM_020340.4	NP_065073.3			KIAA1244									p.S1438P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCTGTGATGTCCGTTTGGCT	0.502																																						uc003qhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4525-4527)TCC>CCC		brefeldin A-inhibited guanine							187.0	188.0	188.0					6																	138640890		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138640890T>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4525T>C	6.37:g.138640890T>C	ENSP00000251691:p.Ser1509Pro						p.S1509P	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	28	4525	+	Breast(32;0.135)		1509			Helical; (Potential).			Missense_Mutation	SNP	ENST00000251691.4	37	c.4525T>C	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830554	0.50845	.	.	ENSG00000112379	ENST00000251691	T	0.19250	2.16	5.5	-0.144	0.13440	.	0.338986	0.32273	N	0.006336	T	0.07052	0.0179	L	0.44542	1.39	0.48288	D	0.999626	B	0.31009	0.303	B	0.31547	0.132	T	0.15178	-1.0446	10	0.54805	T	0.06	-20.0548	7.6141	0.28148	0.2226:0.0:0.2153:0.5621	.	1509	Q5TH69	BIG3_HUMAN	P	1509	ENSP00000251691:S1509P	ENSP00000251691:S1509P	S	+	1	0	KIAA1244	138682583	1.000000	0.71417	0.924000	0.36721	0.968000	0.65278	1.542000	0.36137	-0.166000	0.10890	0.533000	0.62120	TCC		PASS	0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		41	70	41	70	---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139135688	139135688	+	Missense_Mutation	SNP	C	C	G	rs576169167		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:139135688C>G	ENST00000423192.1	+	3	288	c.127C>G	c.(127-129)Cgt>Ggt	p.R43G	ECT2L_ENST00000367682.2_Missense_Mutation_p.R43G|ECT2L_ENST00000541398.1_5'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	43							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R43G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAACAAGCAACGTCAAGAATT	0.363			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1				Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CGT>GGT		epithelial cell transforming sequence 2							90.0	86.0	87.0					6																	139135688		1828	4082	5910	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139135688C>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.127C>G	6.37:g.139135688C>G	ENSP00000387388:p.Arg43Gly					ECT2L_uc011edq.1_5'UTR	p.R43G	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			2	230	+			43					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.127C>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825243	0.71143	.	.	ENSG00000203734	ENST00000423192;ENST00000401414;ENST00000367682	T;T;T	0.71698	-0.59;0.4;-0.59	5.43	5.43	0.79202	.	.	.	.	.	T	0.74891	0.3776	L	0.55213	1.73	0.80722	D	1	D	0.69078	0.997	P	0.61397	0.888	T	0.77400	-0.2602	9	0.66056	D	0.02	.	16.1748	0.81844	0.0:1.0:0.0:0.0	.	43	Q008S8	ECT2L_HUMAN	G	43	ENSP00000387388:R43G;ENSP00000385187:R43G;ENSP00000356655:R43G	ENSP00000356655:R43G	R	+	1	0	ECT2L	139177381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.045000	0.49838	2.554000	0.86153	0.655000	0.94253	CGT		PASS	0.363	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		6	13	6	13	---	---	---	---
FUCA2	2519	broad.mit.edu	37	6	143825251	143825251	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr6:143825251A>T	ENST00000002165.6	-	3	606	c.551T>A	c.(550-552)tTt>tAt	p.F184Y	RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	184					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.F184Y(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AAACCATTCAAAAAGGGAATA	0.448																																						uc003qjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)TTT>TAT		fucosidase, alpha-L- 2, plasma precursor							109.0	103.0	105.0					6																	143825251		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143825251A>T	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.551T>A	6.37:g.143825251A>T	ENSP00000002165:p.Phe184Tyr					FUCA2_uc003qjn.2_5'Flank	p.F184Y	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	3	643	-			184					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.551T>A	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445586	0.63178	.	.	ENSG00000001036	ENST00000002165	T	0.55760	0.5	5.72	5.72	0.89469	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.12182	0.205	0.80722	D	1	P	0.35807	0.522	B	0.41946	0.371	T	0.17776	-1.0358	10	0.11794	T	0.64	-20.0017	16.0105	0.80399	1.0:0.0:0.0:0.0	.	184	Q9BTY2	FUCO2_HUMAN	Y	184	ENSP00000002165:F184Y	ENSP00000002165:F184Y	F	-	2	0	FUCA2	143866944	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.957000	0.93082	2.167000	0.68274	0.528000	0.53228	TTT		PASS	0.448	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		19	32	19	32	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31682869	31682869	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:31682869A>G	ENST00000407970.3	+	11	1923	c.1885A>G	c.(1885-1887)Acc>Gcc	p.T629A	CCDC129_ENST00000409210.1_Missense_Mutation_p.T537A|CCDC129_ENST00000451887.2_Missense_Mutation_p.T655A|CCDC129_ENST00000319386.3_Missense_Mutation_p.T481A	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	629								p.T481A(1)|p.T629A(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGTCCTCACACCAACCACAG	0.463																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1885-1887)ACC>GCC		coiled-coil domain containing 129							132.0	116.0	121.0					7																	31682869		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682869A>G	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.1885A>G	7.37:g.31682869A>G	ENSP00000384416:p.Thr629Ala					CCDC129_uc011kad.1_Missense_Mutation_p.T639A|CCDC129_uc003tci.1_Missense_Mutation_p.T480A|CCDC129_uc011kae.1_Missense_Mutation_p.T655A|CCDC129_uc003tck.1_Missense_Mutation_p.T537A	p.T629A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2878	+			629					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1885A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466595	0.26335	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19669	2.13;2.4;2.4;2.14	6.02	1.82	0.25136	.	0.883676	0.09828	N	0.750603	T	0.18130	0.0435	L	0.50333	1.59	0.09310	N	1	P;B;B;P	0.42941	0.655;0.4;0.4;0.794	B;B;B;B	0.39805	0.194;0.225;0.225;0.31	T	0.22312	-1.0220	10	0.59425	D	0.04	0.2385	3.757	0.08589	0.5918:0.1859:0.2223:0.0	.	655;639;629;481	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	A	481;629;655;639;537	ENSP00000313062:T481A;ENSP00000384416:T629A;ENSP00000395835:T655A;ENSP00000387214:T537A	ENSP00000313062:T481A	T	+	1	0	CCDC129	31649394	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.447000	0.21710	1.086000	0.41228	0.533000	0.62120	ACC		PASS	0.463	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		16	18	16	18	---	---	---	---
DPY19L1	23333	broad.mit.edu	37	7	35050131	35050131	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:35050131A>G	ENST00000310974.4	-	6	638	c.494T>C	c.(493-495)aTt>aCt	p.I165T		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	165						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I165T(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCATTTAAAATAAAAATTAC	0.259																																						uc003tem.3																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)ATT>ACT		dpy-19-like 1							31.0	30.0	30.0					7																	35050131		2055	4232	6287	SO:0001583	missense	23333					integral to membrane		g.chr7:35050131A>G	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.494T>C	7.37:g.35050131A>G	ENSP00000308695:p.Ile165Thr						p.I165T	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN			6	639	-			165			Helical; (Potential).		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.494T>C	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796909	0.50208	.	.	ENSG00000173852	ENST00000310974	T	0.55413	0.52	5.29	5.29	0.74685	.	0.340922	0.27991	N	0.017029	T	0.48768	0.1518	L	0.55481	1.735	0.36400	D	0.863065	B	0.22909	0.077	B	0.25140	0.058	T	0.53143	-0.8480	10	0.23302	T	0.38	-10.6501	14.4017	0.67050	1.0:0.0:0.0:0.0	.	165	Q2PZI1	D19L1_HUMAN	T	165	ENSP00000308695:I165T	ENSP00000308695:I165T	I	-	2	0	DPY19L1	35016656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.169000	0.89672	2.003000	0.58678	0.477000	0.44152	ATT		PASS	0.259	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			9	21	9	21	---	---	---	---
GBAS	2631	broad.mit.edu	37	7	56066761	56066761	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:56066761A>T	ENST00000322090.3	+	10	886	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	GBAS_ENST00000446778.1_Missense_Mutation_p.Q247L	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	286					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.Q286L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCGCCCCTCCAGTAAAGCTGT	0.373																																						uc003tre.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(856-858)CAG>CTG		nipsnap homolog 2							134.0	120.0	125.0					7																	56066761		2203	4300	6503	SO:0001583	missense	2631					integral to plasma membrane|membrane fraction|mitochondrion	protein binding	g.chr7:56066761A>T	AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.857A>T	7.37:g.56066761A>T	ENSP00000313050:p.Gln286Leu					GBAS_uc003trf.1_Missense_Mutation_p.Q247L	p.Q286L	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		10	865	+	Breast(14;0.214)		286					C9IYJ3|O43801|Q53X96	Missense_Mutation	SNP	ENST00000322090.3	37	c.857A>T	CCDS5521.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290056	0.80914	.	.	ENSG00000146729	ENST00000322090;ENST00000446778	T;T	0.47177	0.85;0.85	5.83	5.83	0.93111	Dimeric alpha-beta barrel (1);	0.158232	0.64402	D	0.000019	T	0.66616	0.2807	M	0.80183	2.485	0.58432	D	0.999999	D;B	0.56287	0.975;0.418	P;B	0.57468	0.821;0.157	T	0.71971	-0.4431	10	0.87932	D	0	-8.0829	15.3658	0.74519	1.0:0.0:0.0:0.0	.	247;286	C9IYJ3;O75323	.;NIPS2_HUMAN	L	286;247	ENSP00000313050:Q286L;ENSP00000406855:Q247L	ENSP00000313050:Q286L	Q	+	2	0	GBAS	56034255	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.553000	0.82203	2.229000	0.72834	0.533000	0.62120	CAG		PASS	0.373	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	NM_001483		21	42	21	42	---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73021342	73021342	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:73021342T>A	ENST00000313375.3	-	5	627	c.580A>T	c.(580-582)Aag>Tag	p.K194*	MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000414749.2_Nonsense_Mutation_p.K194*|MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000354613.1_Nonsense_Mutation_p.K194*|MLXIPL_ENST00000429400.2_Nonsense_Mutation_p.K194*	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	194					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.K194*(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)				CTGCTGGGCTTACGGAGCTGC	0.592											OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tyn.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(580-582)AAG>TAG		Williams Beuren syndrome chromosome region 14							116.0	87.0	97.0					7																	73021342		2203	4300	6503	SO:0001587	stop_gained	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.chr7:73021342T>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.580A>T	7.37:g.73021342T>A	ENSP00000320886:p.Lys194*		OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	MLXIPL_uc003tyk.1_Nonsense_Mutation_p.K194*|MLXIPL_uc003tyl.1_Nonsense_Mutation_p.K194*|MLXIPL_uc003tym.1_Nonsense_Mutation_p.K194*|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Intron|MLXIPL_uc003tyq.1_5'Flank	p.K194*	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			5	628	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	194					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Nonsense_Mutation	SNP	ENST00000313375.3	37	c.580A>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	T	36	5.849703	0.97023	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000456640	.	.	.	3.8	3.8	0.43715	.	0.070151	0.56097	U	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9239	8.8295	0.35076	0.0:0.0:0.0:1.0	.	.	.	.	X	194;194;194;194;156	.	ENSP00000320886:K194X	K	-	1	0	MLXIPL	72659278	0.981000	0.34729	1.000000	0.80357	0.866000	0.49608	2.791000	0.47829	1.584000	0.49913	0.260000	0.18958	AAG		PASS	0.592	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		7	14	7	14	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81386580	81386580	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:81386580T>C	ENST00000222390.5	-	4	633	c.407A>G	c.(406-408)tAc>tGc	p.Y136C	HGF_ENST00000423064.2_Missense_Mutation_p.Y136C|HGF_ENST00000354224.6_Missense_Mutation_p.Y136C|HGF_ENST00000453018.1_Missense_Mutation_p.Y33C|HGF_ENST00000453411.1_Missense_Mutation_p.Y136C|HGF_ENST00000444829.2_Missense_Mutation_p.Y136C|HGF_ENST00000457544.2_Missense_Mutation_p.Y136C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	136	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|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 transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.Y136C(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGTTCCCTTGTAGCTGCGTCC	0.368																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(406-408)TAC>TGC		hepatocyte growth factor isoform 1							182.0	163.0	170.0					7																	81386580		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81386580T>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.407A>G	7.37:g.81386580T>C	ENSP00000222390:p.Tyr136Cys					HGF_uc003uhm.2_Missense_Mutation_p.Y136C|HGF_uc003uhn.1_Missense_Mutation_p.Y136C|HGF_uc003uho.1_Missense_Mutation_p.Y136C|HGF_uc003uhp.2_Missense_Mutation_p.Y136C	p.Y136C	NM_000601	NP_000592	P14210	HGF_HUMAN			4	572	-			136			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.407A>G	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027650	0.75390	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881	D;D;D;D;D;D;D;T	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-0.46	4.89	4.89	0.63831	Kringle (5);Kringle-like fold (1);	0.062738	0.64402	D	0.000003	D	0.95408	0.8509	H	0.98612	4.28	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	1.0;1.0;0.999;1.0;1.0	D	0.97143	0.9826	10	0.87932	D	0	.	14.4998	0.67714	0.0:0.0:0.0:1.0	.	171;136;136;136;136	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	C	136;136;136;136;136;136;136;33;136	ENSP00000222390:Y136C;ENSP00000391238:Y136C;ENSP00000389854:Y136C;ENSP00000408270:Y136C;ENSP00000413829:Y136C;ENSP00000346164:Y136C;ENSP00000395468:Y33C;ENSP00000396307:Y136C	ENSP00000222390:Y136C	Y	-	2	0	HGF	81224516	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.691000	0.74573	1.835000	0.53391	0.533000	0.62120	TAC		PASS	0.368	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		7	27	7	27	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86468464	86468464	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:86468464C>G	ENST00000361669.2	+	4	2733	c.1634C>G	c.(1633-1635)aCc>aGc	p.T545S	GRM3_ENST00000536043.1_Missense_Mutation_p.T417S|GRM3_ENST00000546348.1_Missense_Mutation_p.T137S|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	545					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.T545S(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)					GATGAGTTTACCTGTATGGAT	0.527																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1633-1635)ACC>AGC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						149.0	133.0	139.0					7																	86468464		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468464C>G		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.1634C>G	7.37:g.86468464C>G	ENSP00000355316:p.Thr545Ser					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.T417S|GRM3_uc010leh.2_Missense_Mutation_p.T137S	p.T545S	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	2733	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		545			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1634C>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936023	0.73442	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89939	-2.59;-2.59;-2.59	6.17	6.17	0.99709	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.91975	0.7458	L	0.47016	1.485	0.80722	D	1	B;P;D	0.56035	0.222;0.772;0.974	B;P;P	0.59357	0.268;0.645;0.856	D	0.90627	0.4564	10	0.45353	T	0.12	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	137;417;545	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	S	545;137;417	ENSP00000355316:T545S;ENSP00000444064:T137S;ENSP00000441407:T417S	ENSP00000355316:T545S	T	+	2	0	GRM3	86306400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACC		PASS	0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			32	138	32	138	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94052351	94052351	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:94052351G>T	ENST00000297268.6	+	40	2957	c.2486G>T	c.(2485-2487)gGc>gTc	p.G829V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	829			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		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.G829V(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)	GGTCCAGTTGGCCGAACTGGA	0.567										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.(2485-2487)GGC>GTC		alpha 2 type I collagen precursor	Collagenase(DB00048)						159.0	147.0	151.0					7																	94052351		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.chr7:94052351G>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.2486G>T	7.37:g.94052351G>T	ENSP00000297268:p.Gly829Val	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.G829V	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2957	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		829		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.2486G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240202	0.95240	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96766	0.9565	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	829	P08123	CO1A2_HUMAN	V	829;830	ENSP00000297268:G829V	ENSP00000297268:G829V	G	+	2	0	COL1A2	93890287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.614000	0.88457	0.563000	0.77884	GGC		PASS	0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		38	83	38	83	---	---	---	---
HIPK2	28996	broad.mit.edu	37	7	139305195	139305195	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:139305195G>A	ENST00000406875.3	-	7	1828	c.1734C>T	c.(1732-1734)acC>acT	p.T578T	HIPK2_ENST00000342645.6_Silent_p.T578T|HIPK2_ENST00000428878.2_Silent_p.T578T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	578	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.T578T(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGTCAGGTTGGTGGACGTGC	0.552																																						uc003vvf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(1732-1734)ACC>ACT		homeodomain interacting protein kinase 2 isoform							244.0	239.0	240.0					7																	139305195		2119	4255	6374	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139305195G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1734C>T	7.37:g.139305195G>A						HIPK2_uc003vvd.3_Silent_p.T578T	p.T578T	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			7	1908	-	Melanoma(164;0.205)		578			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.1734C>T																																																																																					PASS	0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		23	69	23	69	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657235	143657235	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:143657235C>A	ENST00000392899.1	+	1	209	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	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)	58					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.P58T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACTCCACACTCCCATGTATTT	0.502																																						uc003wds.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(172-174)CCC>ACC		olfactory receptor, family 2, subfamily F,							281.0	265.0	270.0					7																	143657235		2203	4297	6500	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657235C>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.172C>A	7.37:g.143657235C>A	ENSP00000376633:p.Pro58Thr						p.P58T	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	216	+	Melanoma(164;0.0903)		58			Helical; Name=2; (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.172C>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690769	0.88735	.	.	ENSG00000213215	ENST00000392899	T	0.02032	4.49	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.25938	0.0632	H	0.98646	4.29	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.43065	-0.9414	10	0.87932	D	0	-45.0756	17.2626	0.87075	0.0:1.0:0.0:0.0	.	58	Q13607	OR2F1_HUMAN	T	58	ENSP00000376633:P58T	ENSP00000376633:P58T	P	+	1	0	OR2F1	143288168	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	7.519000	0.81809	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			53	213	53	213	---	---	---	---
CRYGN	155051	broad.mit.edu	37	7	151135212	151135212	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr7:151135212C>A	ENST00000337323.2	-	2	266	c.140G>T	c.(139-141)gGa>gTa	p.G47V	CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Missense_Mutation_p.G47V|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	47	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.							p.G47V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCCAGGCTCCGCTCTCCAC	0.592																																						uc003wke.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GGA>GTA		gammaN-crystallin							72.0	66.0	68.0					7																	151135212		2203	4300	6503	SO:0001583	missense	155051							g.chr7:151135212C>A	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.140G>T	7.37:g.151135212C>A	ENSP00000338613:p.Gly47Val					CRYGN_uc003wkf.2_Missense_Mutation_p.G47V|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	p.G47V	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	236	-			47			Beta/gamma crystallin 'Greek key' 2.		Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	c.140G>T	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709175	0.89018	.	.	ENSG00000127377	ENST00000337323	D	0.92805	-3.11	5.05	5.05	0.67936	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.99701	1.1004	10	0.87932	D	0	.	17.3914	0.87432	0.0:1.0:0.0:0.0	.	47;47	Q8WXF5-2;Q8WXF5	.;CRGN_HUMAN	V	47	ENSP00000338613:G47V	ENSP00000338613:G47V	G	-	2	0	CRYGN	150766145	0.992000	0.36948	0.394000	0.26270	0.974000	0.67602	5.692000	0.68256	2.337000	0.79520	0.462000	0.41574	GGA		PASS	0.592	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			15	30	15	30	---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1719295	1719295	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:1719295C>T	ENST00000331222.4	+	2	322	c.75C>T	c.(73-75)tcC>tcT	p.S25S		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	25					adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S25S(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GGATCCGCTCCACGCTGATGG	0.537																																					Pancreas(155;338 1942 6138 10888 50612)	uc003wpo.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(73-75)TCC>TCT		ceroid-lipofuscinosis, neuronal 8							107.0	100.0	102.0					8																	1719295		2203	4300	6503	SO:0001819	synonymous_variant	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1719295C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.75C>T	8.37:g.1719295C>T							p.S25S	NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	2	380	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	25			Helical; (Potential).		Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	c.75C>T	CCDS5956.1																																																																																				PASS	0.537	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		17	24	17	24	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52320767	52320767	+	Silent	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:52320767G>C	ENST00000356297.4	-	17	3517	c.3417C>G	c.(3415-3417)gcC>gcG	p.A1139A	PXDNL_ENST00000543296.1_Silent_p.A1139A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1139					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.A1139A(1)|p.A338A(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)				GAATGATGGTGGCAGCCGAAT	0.517																																						uc003xqu.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3415-3417)GCC>GCG		peroxidasin homolog-like precursor							87.0	92.0	90.0					8																	52320767		1876	4106	5982	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320767G>C		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.3417C>G	8.37:g.52320767G>C						PXDNL_uc003xqt.3_RNA	p.A1139A	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3518	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1139					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3417C>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.263782	0.01433	.	.	ENSG00000147485	ENST00000522933	.	.	.	3.82	1.7	0.24286	.	.	.	.	.	T	0.43366	0.1244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	.	2.0489	0.03567	0.1292:0.1867:0.4936:0.1906	.	.	.	.	R	258	.	.	P	-	2	0	PXDNL	52483320	0.993000	0.37304	0.015000	0.15790	0.001000	0.01503	0.135000	0.15952	0.479000	0.27511	-0.345000	0.07892	CCA		PASS	0.517	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		17	77	17	77	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68179410	68179410	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:68179410G>T	ENST00000262215.3	-	12	2117	c.1728C>A	c.(1726-1728)gcC>gcA	p.A576A	ARFGEF1_ENST00000520381.1_Silent_p.A30A	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	576	HUS; DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.A576A(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAAATATATTGGCTGCATTTA	0.313																																						uc003xxo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(1726-1728)GCC>GCA		brefeldin A-inhibited guanine							74.0	75.0	75.0					8																	68179410		2202	4291	6493	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68179410G>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1728C>A	8.37:g.68179410G>T						ARFGEF1_uc003xxl.1_Silent_p.A30A	p.A576A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		12	2118	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	576					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.1728C>A	CCDS6199.1																																																																																				PASS	0.313	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		17	52	17	52	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69552748	69552748	+	Splice_Site	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:69552748T>A	ENST00000539993.1	+	8	1532		c.e8+2		C8orf34_ENST00000325233.3_Splice_Site|C8orf34_ENST00000337103.4_Splice_Site|C8orf34_ENST00000518698.1_Splice_Site			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34									p.?(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GTGTGCCAGGTAAAAGACATA	0.383																																						uc010lyz.2																			2	Unknown(2)		lung(2)	large_intestine(1)	1						c.e8+2		hypothetical protein LOC116328							63.0	59.0	60.0					8																	69552748		2203	4299	6502	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552748T>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.983+2T>A	8.37:g.69552748T>A						C8orf34_uc003xyb.2_Splice_Site_p.R303_splice	p.R328_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		8	1032	+								A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Splice_Site	SNP	ENST00000539993.1	37	c.983_splice		.	.	.	.	.	.	.	.	.	.	T	20.5	4.008820	0.75046	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5375	0.76016	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C8orf34	69715302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.075000	0.62263	0.477000	0.44152	.		PASS	0.383	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Intron	24	18	24	18	---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75927109	75927109	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:75927109G>A	ENST00000262207.4	+	6	1157	c.689G>A	c.(688-690)aGt>aAt	p.S230N	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S44N|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S42N	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	230					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.S230N(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)			TGCCCACCTAGTTTTGGAGGG	0.438																																						uc003yan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(688-690)AGT>AAT		cysteine-rich secretory protein LCCL domain							55.0	51.0	52.0					8																	75927109		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75927109G>A	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.689G>A	8.37:g.75927109G>A	ENSP00000262207:p.Ser230Asn					CRISPLD1_uc011lfk.1_Missense_Mutation_p.S42N|CRISPLD1_uc011lfl.1_Missense_Mutation_p.S42N	p.S230N	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		6	1064	+	Breast(64;0.0799)		230					B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.689G>A	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812467	0.90707	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;D	0.85702	0.14;-1.44;-2.02	4.69	4.69	0.59074	.	0.094667	0.85682	D	0.000000	D	0.89556	0.6749	L	0.49640	1.575	0.80722	D	1	D;D	0.65815	0.987;0.995	D;D	0.65443	0.914;0.935	D	0.88903	0.3354	10	0.40728	T	0.16	.	17.8197	0.88647	0.0:0.0:1.0:0.0	.	44;230	B7Z929;Q9H336	.;CRLD1_HUMAN	N	230;42;44	ENSP00000262207:S230N;ENSP00000430105:S42N;ENSP00000429746:S44N	ENSP00000262207:S230N	S	+	2	0	CRISPLD1	76089664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.587000	0.98229	2.429000	0.82318	0.460000	0.39030	AGT		PASS	0.438	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		16	17	16	17	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77764469	77764469	+	Missense_Mutation	SNP	C	C	T	rs566127152		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:77764469C>T	ENST00000521891.2	+	10	5760	c.5312C>T	c.(5311-5313)gCt>gTt	p.A1771V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1745V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1726V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1726V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1726	Gln-rich.				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.A1771V(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)			ACAGGAATGGCTGGCTCCTTG	0.488										HNSCC(33;0.089)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18646	0.0		0.001	False		,,,				2504	0.0					uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5176-5178)GCT>GTT		zinc finger homeodomain 4							34.0	33.0	33.0					8																	77764469		2090	4244	6334	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764469C>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.5312C>T	8.37:g.77764469C>T	ENSP00000430497:p.Ala1771Val	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.A1771V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1726V	p.A1726V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5564	+			1726			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5177C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997171	0.54147	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51817	0.69;0.74;0.71;0.7	4.71	4.71	0.59529	.	0.155383	0.29861	U	0.011019	T	0.39937	0.1097	L	0.36672	1.1	0.27099	N	0.962669	B;B;B	0.26809	0.041;0.16;0.16	B;B;B	0.21917	0.017;0.037;0.037	T	0.19877	-1.0292	10	0.28530	T	0.3	.	18.2749	0.90080	0.0:1.0:0.0:0.0	.	1726;1726;1771	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	1771;1771;1726;1726;1745	ENSP00000430497:A1771V;ENSP00000399605:A1726V;ENSP00000050961:A1726V;ENSP00000430848:A1745V	ENSP00000050961:A1726V	A	+	2	0	ZFHX4	77927024	0.926000	0.31397	1.000000	0.80357	0.985000	0.73830	5.541000	0.67212	2.631000	0.89168	0.632000	0.83419	GCT		PASS	0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	14	5	14	---	---	---	---
MATN2	4147	broad.mit.edu	37	8	98943591	98943591	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:98943591C>T	ENST00000520016.1	+	2	677	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	MATN2_ENST00000254898.5_Missense_Mutation_p.R185W|MATN2_ENST00000524308.1_Missense_Mutation_p.R185W|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.R185W			O00339	MATN2_HUMAN	matrilin 2	185	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R185W(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)			TGCTAAGGCACGGGACACGGG	0.587																																						uc003yic.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(553-555)CGG>TGG		matrilin 2 isoform a precursor							36.0	42.0	40.0					8																	98943591		2170	4271	6441	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943591C>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.553C>T	8.37:g.98943591C>T	ENSP00000430487:p.Arg185Trp					MATN2_uc003yib.1_Missense_Mutation_p.R185W|MATN2_uc010mbh.1_Missense_Mutation_p.R185W|MATN2_uc003yid.2_Missense_Mutation_p.R185W|MATN2_uc003yie.1_Missense_Mutation_p.R185W|MATN2_uc010mbi.1_Missense_Mutation_p.R59W	p.R185W	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	784	+	Breast(36;1.43e-06)		185			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.553C>T	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.52|18.52	3.642724|3.642724	0.67244|0.67244	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016|ENST00000518154	T;T;T;T|.	0.81330|.	-1.48;-1.48;-1.48;-1.48|.	5.82|5.82	4.87|4.87	0.63330|0.63330	von Willebrand factor, type A (3);|.	0.000000|.	0.56097|.	D|.	0.000031|.	D|D	0.87724|0.87724	0.6249|0.6249	H|H	0.96208|0.96208	3.785|3.785	0.46631|0.46631	D|D	0.999135|0.999135	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|D	0.91325|0.91325	0.5085|0.5085	10|5	0.87932|.	D|.	0|.	-19.362|-19.362	17.636|17.636	0.88122|0.88122	0.1315:0.8685:0.0:0.0|0.1315:0.8685:0.0:0.0	.|.	185;185;185;185|.	E9PF03;O00339-2;O00339;Q8N2G3|.	.;.;MATN2_HUMAN;.|.	W|M	185|8	ENSP00000429977:R185W;ENSP00000254898:R185W;ENSP00000430221:R185W;ENSP00000430487:R185W|.	ENSP00000254898:R185W|.	R|T	+|+	1|2	2|0	MATN2|MATN2	99012767|99012767	0.908000|0.908000	0.30866|0.30866	0.953000|0.953000	0.39169|0.39169	0.856000|0.856000	0.48823|0.48823	1.785000|1.785000	0.38684|0.38684	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	CGG|ACG		PASS	0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			14	21	14	21	---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101146070	101146070	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:101146070G>A	ENST00000428847.2	-	5	2403	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	696					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P662L(2)|p.P696L(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGCACTTCCTGGGAGAGCATC	0.398																																						uc003yjd.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(2086-2088)CCA>CTA		F-box protein 43 isoform b							129.0	119.0	122.0					8																	101146070		1880	4105	5985	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101146070G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.2087C>T	8.37:g.101146070G>A	ENSP00000403293:p.Pro696Leu					FBXO43_uc003yje.2_Missense_Mutation_p.P662L	p.P696L	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		5	2800	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		696						Missense_Mutation	SNP	ENST00000428847.2	37	c.2087C>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620619	0.87460	.	.	ENSG00000156509	ENST00000428847	T	0.51574	0.7	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72972	-0.4129	10	0.87932	D	0	-13.2181	18.9977	0.92819	0.0:0.0:1.0:0.0	.	696	Q4G163	FBX43_HUMAN	L	696	ENSP00000403293:P696L	ENSP00000403293:P696L	P	-	2	0	FBXO43	101215246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.089000	0.94137	2.561000	0.86390	0.655000	0.94253	CCA		PASS	0.398	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		14	63	14	63	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898414	104898414	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:104898414T>C	ENST00000436393.2	+	2	1162	c.921T>C	c.(919-921)gaT>gaC	p.D307D	RIMS2_ENST00000406091.3_Silent_p.D529D|RIMS2_ENST00000507740.1_Silent_p.D337D|RIMS2_ENST00000262231.10_Silent_p.D337D			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	560					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.D337D(2)|p.D307D(1)|p.D529D(1)|p.D565D(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)			CAAGTTGTGATGATGTTGAGA	0.363										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - coding silent(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(919-921)GAT>GAC		regulating synaptic membrane exocytosis 2							57.0	52.0	53.0					8																	104898414		1926	4120	6046	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898414T>C	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.921T>C	8.37:g.104898414T>C		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Silent_p.D529D|RIMS2_uc003ylw.2_Silent_p.D337D|RIMS2_uc003ylq.2_Silent_p.D337D|RIMS2_uc003ylr.2_Silent_p.D337D	p.D307D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1162	+			560					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.921T>C																																																																																					PASS	0.363	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		9	36	9	36	---	---	---	---
MED30	90390	broad.mit.edu	37	8	118533160	118533160	+	Silent	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:118533160C>G	ENST00000297347.3	+	1	209	c.45C>G	c.(43-45)ccC>ccG	p.P15P	MED30_ENST00000522839.1_Silent_p.P15P	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	15					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P15P(1)		kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CGCCCGGGCCCTTCGCCGGGC	0.716																																					Melanoma(81;817 1341 9674 26244 29255)	uc003yoj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)CCC>CCG		TRAP/Mediator complex component TRAP25							10.0	11.0	11.0					8																	118533160		2157	4234	6391	SO:0001819	synonymous_variant	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118533160C>G	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.45C>G	8.37:g.118533160C>G						MED30_uc011lib.1_Silent_p.P15P	p.P15P	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		1	196	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		15					C6GKU9	Silent	SNP	ENST00000297347.3	37	c.45C>G	CCDS6323.1																																																																																				PASS	0.716	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		14	11	14	11	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139160838	139160838	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr8:139160838A>T	ENST00000395297.1	-	14	3543	c.3373T>A	c.(3373-3375)Tat>Aat	p.Y1125N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1125								p.Y1125N(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)			GGTGGGAAATATGGTATATCA	0.373										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3373-3375)TAT>AAT		hypothetical protein LOC51059							109.0	96.0	101.0					8																	139160838		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160838A>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.3373T>A	8.37:g.139160838A>T	ENSP00000378710:p.Tyr1125Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.Y1026N|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Missense_Mutation_p.Y687N|FAM135B_uc003yvb.2_Intron	p.Y1125N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3544	-	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)		1125					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3373T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446151	0.84101	.	.	ENSG00000147724	ENST00000395297	T	0.20738	2.05	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	T	0.54938	-0.8218	10	0.87932	D	0	-19.0069	15.2978	0.73922	1.0:0.0:0.0:0.0	.	1125;1125	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	N	1125	ENSP00000378710:Y1125N	ENSP00000378710:Y1125N	Y	-	1	0	FAM135B	139230020	1.000000	0.71417	0.953000	0.39169	0.917000	0.54804	7.342000	0.79310	2.204000	0.70986	0.528000	0.53228	TAT		PASS	0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	13	16	13	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8527348	8527348	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:8527348T>G	ENST00000381196.4	-	13	1090	c.547A>C	c.(547-549)Att>Ctt	p.I183L	PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000486161.1_Missense_Mutation_p.I183L|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Missense_Mutation_p.I183L|PTPRD_ENST00000540109.1_Missense_Mutation_p.I183L|PTPRD_ENST00000356435.5_Missense_Mutation_p.I183L|PTPRD_ENST00000397606.3_Missense_Mutation_p.I183L|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	183	Ig-like C2-type 2.|Interaction with IL1RAPL1. {ECO:0000250}.				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.I183L(3)		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)		CACTTACCAATAGATTCTGGA	0.284										TSP Lung(15;0.13)																												uc003zkk.2																			3	Substitution - Missense(3)		lung(3)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(547-549)ATT>CTT		protein tyrosine phosphatase, receptor type, D							48.0	47.0	48.0					9																	8527348		1780	4056	5836	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8527348T>G	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.547A>C	9.37:g.8527348T>G	ENSP00000370593:p.Ile183Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.I183L|PTPRD_uc003zkq.2_Missense_Mutation_p.I183L|PTPRD_uc003zkr.2_Missense_Mutation_p.I183L|PTPRD_uc003zks.2_Missense_Mutation_p.I183L|PTPRD_uc003zkl.2_Missense_Mutation_p.I183L|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Missense_Mutation_p.I183L|PTPRD_uc003zko.2_Intron	p.I183L	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)	15	1258	-		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)	183			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.547A>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	9.741	1.164885	0.21538	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000355233;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;T	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-0.29	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89931	0.6858	N	0.13272	0.32	0.80722	D	1	B;B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002;0.0	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.001;0.002;0.001	D	0.86061	0.1532	8	.	.	.	.	16.2669	0.82588	0.0:0.0:0.0:1.0	.	183;183;183;183;183;183	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;Q2HXI4;P23468	.;.;.;.;.;PTPRD_HUMAN	L	183	ENSP00000370593:I183L;ENSP00000348812:I183L;ENSP00000347373:I183L;ENSP00000438164:I183L;ENSP00000417093:I183L;ENSP00000380731:I183L	.	I	-	1	0	PTPRD	8517348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	2.240000	0.73641	0.533000	0.62120	ATT		PASS	0.284	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			11	22	11	22	---	---	---	---
IFNA4	3441	broad.mit.edu	37	9	21187362	21187362	+	Missense_Mutation	SNP	G	G	T	rs144166492	byFrequency	TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:21187362G>T	ENST00000421715.1	-	1	236	c.169C>A	c.(169-171)Cat>Aat	p.H57N		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	57					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)|response to virus (GO:0009615)|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.H57N(1)|p.H57Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCGAAATCATGTCTGTCCTTC	0.517													G|||	19	0.00379393	0.0144	0.0	5008	,	,		19945	0.0		0.0	False		,,,				2504	0.0				NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|skin(1)	2						c.(169-171)CAT>AAT		interferon, alpha 4 precursor		G	ASN/HIS	70,4336		3,64,2136	124.0	122.0	123.0		169	-3.3	0.0	9	dbSNP_134	123	1,8599		0,1,4299	no	missense	IFNA4	NM_021068.2	68	3,65,6435	TT,TG,GG		0.0116,1.5887,0.5459	benign	57/190	21187362	71,12935	2203	4300	6503	SO:0001583	missense	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187362G>T		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.169C>A	9.37:g.21187362G>T	ENSP00000412897:p.His57Asn						p.H57N	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	237	-			57					P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	c.169C>A	CCDS6498.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	-	3.269	-0.149586	0.06585	0.015887	1.16E-4	ENSG00000236637	ENST00000421715	T	0.03094	4.05	2.96	-3.31	0.04988	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.570130	0.03323	N	0.192191	T	0.01156	0.0038	N	0.13371	0.34	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.45556	-0.9253	10	0.20046	T	0.44	.	6.0421	0.19740	0.0:0.1378:0.2337:0.6285	.	57	P05014	IFNA4_HUMAN	N	57	ENSP00000412897:H57N	ENSP00000412897:H57N	H	-	1	0	IFNA4	21177362	0.000000	0.05858	0.023000	0.16930	0.124000	0.20399	-0.843000	0.04350	-0.801000	0.04427	0.485000	0.47835	CAT		PASS	0.517	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		19	78	19	78	---	---	---	---
POLR1E	64425	broad.mit.edu	37	9	37495219	37495219	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:37495219C>T	ENST00000377798.4	+	7	714	c.601C>T	c.(601-603)Cct>Tct	p.P201S	POLR1E_ENST00000442009.2_Missense_Mutation_p.P131S|POLR1E_ENST00000377792.3_Missense_Mutation_p.P263S	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.P201S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCTCTACCTTCCTCCCTGCTA	0.423																																					Ovarian(116;843 1620 18506 32459 34463)	uc003zzz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(787-789)CCT>TCT		RNA polymerase I associated factor 53							216.0	191.0	199.0					9																	37495219		2203	4300	6503	SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37495219C>T	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.601C>T	9.37:g.37495219C>T	ENSP00000367029:p.Pro201Ser					POLR1E_uc011lqj.1_Silent_p.F140F|POLR1E_uc003zzy.1_Missense_Mutation_p.P201S|POLR1E_uc011lqk.1_Missense_Mutation_p.P130S	p.P263S	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	6	1075	+			263					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	c.787C>T	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844265	0.91197	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.60797	0.16;0.16;0.16	5.02	5.02	0.67125	.	0.049386	0.85682	D	0.000000	T	0.74997	0.3790	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	T	0.77130	-0.2701	10	0.87932	D	0	-18.5243	17.6335	0.88115	0.0:1.0:0.0:0.0	.	131;263;201	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	S	201;131;263	ENSP00000367029:P201S;ENSP00000399887:P131S;ENSP00000367023:P263S	ENSP00000367023:P263S	P	+	1	0	POLR1E	37485219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.516000	0.73755	2.773000	0.95371	0.655000	0.94253	CCT		PASS	0.423	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		34	65	34	65	---	---	---	---
OR13D1	286365	broad.mit.edu	37	9	107456872	107456872	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:107456872T>G	ENST00000318763.5	+	1	213	c.170T>G	c.(169-171)cTt>cGt	p.L57R		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L57R(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GAGCTCCAGCTTTTTCTGTTC	0.478																																						uc011lvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)CTT>CGT		olfactory receptor, family 13, subfamily D,							88.0	89.0	89.0					9																	107456872		2203	4297	6500	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456872T>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.170T>G	9.37:g.107456872T>G	ENSP00000317357:p.Leu57Arg						p.L57R	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	170	+			57			Extracellular (Potential).		B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.170T>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	T	0.696	-0.792776	0.02884	.	.	ENSG00000179055	ENST00000318763	T	0.00457	7.29	3.75	1.33	0.21861	.	0.860818	0.09844	N	0.748510	T	0.00271	0.0008	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32666	-0.9898	10	0.25106	T	0.35	.	4.6747	0.12706	0.0:0.1094:0.1944:0.6962	.	57	Q8NGV5	O13D1_HUMAN	R	57	ENSP00000317357:L57R	ENSP00000317357:L57R	L	+	2	0	OR13D1	106496693	0.000000	0.05858	0.152000	0.22495	0.343000	0.28985	-0.113000	0.10774	0.080000	0.16959	0.496000	0.49642	CTT		PASS	0.478	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			31	76	31	76	---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113547908	113547910	+	Nonsense_Mutation	TNP	CCA	CCA	AAT	rs376052538		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:113547908_113547910CCA>AAT	ENST00000374448.4	+	13	1822_1824	c.1688_1690CCA>AAT	c.(1687-1692)cCCAaa>cAATaa	p.563_564PK>Q*	MUSK_ENST00000374438.1_Nonsense_Mutation_p.79_80PK>Q*|MUSK_ENST00000189978.5_Nonsense_Mutation_p.563_564PK>Q*|MUSK_ENST00000416899.2_Nonsense_Mutation_p.555_556PK>Q*	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	563					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K564*(1)|p.P563H(1)|p.P563P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCTGAACCCCAAATTGCTCAG	0.483																																						uc004bey.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1687-1689)CCC>CAC|c.(1687-1689)CCC>CCA|c.(1690-1692)AAA>TAA		skeletal muscle receptor tyrosine kinase																																				SO:0001587	stop_gained	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547908C>A|g.chr9:113547909C>A|g.chr9:113547910A>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1688_1690CCA>AAT	9.37:g.113547908CCA>AAT	ENSP00000363571:p.P563_K564delinsQ*					MUSK_uc004bez.1_Missense_Mutation_p.P143H|MUSK_uc004bez.1_Silent_p.P143P|MUSK_uc004bez.1_Nonsense_Mutation_p.K144*	p.P563H|p.P563P|p.K564*	NM_005592	NP_005583	O15146	MUSK_HUMAN			12	1786|1787|1788	+			563|563|564			Cytoplasmic (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation|Silent|Nonsense_Mutation	SNP	ENST00000374448.4	37	c.1688C>A|c.1689C>A|c.1690A>T	CCDS48005.1																																																																																				PASS	0.483	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9|10|10	59|59|60	9	59	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115805911	115805911	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:115805911G>T	ENST00000374227.3	-	4	1014	c.987C>A	c.(985-987)gcC>gcA	p.A329A	ZFP37_ENST00000555206.1_Silent_p.A330A|ZFP37_ENST00000553380.1_Silent_p.A344A	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A329A(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTTGGCTAAAGGCTATCCCAC	0.413																																						uc004bgm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(985-987)GCC>GCA		zinc finger protein 37 homolog							131.0	122.0	125.0					9																	115805911		2203	4300	6503	SO:0001819	synonymous_variant	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805911G>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.987C>A	9.37:g.115805911G>T						ZFP37_uc011lwz.1_Silent_p.A344A|ZFP37_uc011lxa.1_Silent_p.A330A	p.A329A	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1015	-			329			C2H2-type 2.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	c.987C>A	CCDS6787.1																																																																																				PASS	0.413	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		34	77	34	77	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139396757	139396757	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:139396757C>A	ENST00000277541.6	-	28	5426	c.5351G>T	c.(5350-5352)cGg>cTg	p.R1784L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1784					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)	p.R1784L(1)|p.R1785L(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGGGGCTCCCGCCGCTTCTT	0.701			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.K1783_R1784ins31(2)	lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5350-5352)CGG>CTG		notch1 preproprotein							16.0	19.0	18.0					9																	139396757		1935	4119	6054	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396757C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5351G>T	9.37:g.139396757C>A	ENSP00000277541:p.Arg1784Leu	HNSCC(8;0.001)					p.R1784L	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	28	5351	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1784			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5351G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333562	0.95758	.	.	ENSG00000148400	ENST00000277541	D	0.84873	-1.91	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.92512	0.7622	M	0.91406	3.205	0.80722	D	1	D	0.54397	0.966	P	0.56343	0.796	D	0.94436	0.7654	10	0.87932	D	0	.	16.7691	0.85532	0.0:1.0:0.0:0.0	.	1784	P46531	NOTC1_HUMAN	L	1784	ENSP00000277541:R1784L	ENSP00000277541:R1784L	R	-	2	0	NOTCH1	138516578	1.000000	0.71417	0.955000	0.39395	0.794000	0.44872	7.533000	0.81994	2.271000	0.75665	0.561000	0.74099	CGG		PASS	0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	14	11	14	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8007226	8007226	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:8007226G>T	ENST00000344293.5	+	3	1959	c.1753G>T	c.(1753-1755)Gca>Tca	p.A585S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	585	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.A585S(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGAGGAAGAGGCAGATCCCTA	0.373																																						uc010qbd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1753-1755)GCA>TCA		RNA polymerase II transcription factor TAFII140							70.0	68.0	69.0					10																	8007226		1812	4073	5885	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007226G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1753G>T	10.37:g.8007226G>T	ENSP00000340271:p.Ala585Ser						p.A585S	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	1753	+			585			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.1753G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.940936	0.00052	.	.	ENSG00000165632	ENST00000344293	T	0.16196	2.36	5.67	-0.966	0.10320	.	0.883141	0.09683	N	0.769406	T	0.05410	0.0143	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41716	-0.9493	10	0.09084	T	0.74	-3.1632	2.8839	0.05656	0.1058:0.1386:0.3677:0.3878	.	585	Q5VWG9	TAF3_HUMAN	S	585	ENSP00000340271:A585S	ENSP00000340271:A585S	A	+	1	0	TAF3	8047232	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	0.379000	0.20585	-0.421000	0.07416	-0.271000	0.10264	GCA		PASS	0.373	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		10	35	10	35	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	53227593	53227593	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:53227593A>G	ENST00000401604.2	+	3	738	c.544A>G	c.(544-546)Aag>Gag	p.K182E	PRKG1_ENST00000373985.1_Missense_Mutation_p.K170E|PRKG1_ENST00000373980.4_Missense_Mutation_p.K197E			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	182	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.K182E(1)|p.K197E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGCGACCGTCAAGAGTAAGAC	0.358																																						uc001jjm.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(544-546)AAG>GAG		protein kinase, cGMP-dependent, type I isoform							102.0	96.0	98.0					10																	53227593		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53227593A>G		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.544A>G	10.37:g.53227593A>G	ENSP00000384200:p.Lys182Glu					PRKG1_uc001jjn.2_Missense_Mutation_p.K197E|PRKG1_uc001jjo.2_Missense_Mutation_p.K197E|PRKG1_uc010qhp.1_Missense_Mutation_p.K182E	p.K182E	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	3	738	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	182			cGMP 1.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.544A>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449038	0.63178	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.96913	-4.17;-4.17;-3.05;-3.05	5.79	5.79	0.91817	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	0.94981	0.8376	M	0.63428	1.95	0.80722	D	1	B;B;B	0.25772	0.134;0.076;0.093	B;B;B	0.28709	0.093;0.032;0.06	D	0.92984	0.6409	10	0.42905	T	0.14	-6.517	14.0709	0.64858	1.0:0.0:0.0:0.0	.	182;197;182	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	E	182;170;197;55	ENSP00000384200:K182E;ENSP00000363097:K170E;ENSP00000363092:K197E;ENSP00000363087:K55E	ENSP00000363087:K55E	K	+	1	0	PRKG1	52897599	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.006000	0.76329	2.201000	0.70794	0.460000	0.39030	AAG		PASS	0.358	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	37	8	37	---	---	---	---
TFAM	7019	broad.mit.edu	37	10	60147948	60147948	+	Splice_Site	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:60147948A>G	ENST00000487519.1	+	3	746		c.e3-1		TFAM_ENST00000373899.3_Splice_Site|TFAM_ENST00000373895.3_Splice_Site	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial						DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTCATTCCATAGATGCAAAAA	0.338																																						uc001jkf.2																			1	Unknown(1)		lung(1)		0						c.e3-2		transcription factor A, mitochondrial precursor							69.0	73.0	72.0					10																	60147948		2203	4300	6503	SO:0001630	splice_region_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60147948A>G	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.221-1A>G	10.37:g.60147948A>G						TFAM_uc001jkg.2_Splice_Site|TFAM_uc001jkh.2_Splice_Site_p.D74_splice	p.D74_splice	NM_003201	NP_003192	Q00059	TFAM_HUMAN			3	353	+								A8MRB2|A9QXC6|B5BU05|Q5U0C6	Splice_Site	SNP	ENST00000487519.1	37	c.221_splice	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	A	5.646	0.303768	0.10678	.	.	ENSG00000108064	ENST00000487519;ENST00000373895;ENST00000395377	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.835	0.40965	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TFAM	59817954	1.000000	0.71417	0.631000	0.29282	0.020000	0.10135	5.652000	0.67959	2.102000	0.63906	0.524000	0.50904	.		PASS	0.338	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	Intron	12	20	12	20	---	---	---	---
SFTPA1	653509	broad.mit.edu	37	10	81373017	81373017	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:81373017G>A	ENST00000398636.3	+	5	503	c.365G>A	c.(364-366)aGg>aAg	p.R122K	SFTPA1_ENST00000419470.2_Missense_Mutation_p.R137K|SFTPA1_ENST00000372313.5_Missense_Mutation_p.R63K|SFTPA1_ENST00000428376.2_Missense_Mutation_p.R122K|SFTPA1_ENST00000372308.3_Missense_Mutation_p.R122K	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	122					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)	p.R137K(1)		endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTGCAGACAAGGGGAGGTAAG	0.532																																						uc001kap.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)AGG>AAG		surfactant protein A1 isoform 1							181.0	184.0	183.0					10																	81373017		2203	4296	6499	SO:0001583	missense	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373017G>A	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.365G>A	10.37:g.81373017G>A	ENSP00000381633:p.Arg122Lys					SFTPA1_uc001kaq.2_Missense_Mutation_p.R122K|SFTPA1_uc009xry.2_Missense_Mutation_p.R137K|SFTPA1_uc001kar.2_Missense_Mutation_p.R122K|SFTPA1_uc010qlt.1_Missense_Mutation_p.R63K|SFTPA1_uc009xrz.2_Missense_Mutation_p.R52K|SFTPA1_uc009xsa.2_Missense_Mutation_p.R122K|SFTPA1_uc009xsf.2_5'Flank	p.R122K	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		5	486	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		122					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.365G>A	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	.	0.560	-0.845689	0.02671	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	D;D;D;T;D;D;D	0.87650	-2.07;-2.04;-2.04;3.05;-1.98;-2.28;-2.28	2.71	-1.47	0.08772	.	1.475520	0.03667	N	0.243351	T	0.73697	0.3620	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.61676	-0.7014	10	0.02654	T	1	0.7263	3.2027	0.06655	0.3986:0.0:0.228:0.3734	.	122;137;122	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	K	122;122;122;63;137;122;122;122	ENSP00000361382:R122K;ENSP00000381633:R122K;ENSP00000411102:R122K;ENSP00000361387:R63K;ENSP00000397082:R137K;ENSP00000395527:R122K;ENSP00000401649:R122K	ENSP00000361382:R122K	R	+	2	0	SFTPA1	81043023	0.000000	0.05858	0.101000	0.21167	0.379000	0.30106	-1.280000	0.02804	-0.316000	0.08690	-0.558000	0.04189	AGG		PASS	0.532	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		22	84	22	84	---	---	---	---
ANXA11	311	broad.mit.edu	37	10	81928934	81928934	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:81928934G>C	ENST00000438331.1	-	6	834	c.352C>G	c.(352-354)Ccc>Gcc	p.P118A	ANXA11_ENST00000535999.1_Missense_Mutation_p.P118A|ANXA11_ENST00000265447.4_Missense_Mutation_p.P118A|ANXA11_ENST00000360615.4_Missense_Mutation_p.P118A|ANXA11_ENST00000537102.1_Missense_Mutation_p.P85A|ANXA11_ENST00000372231.3_Missense_Mutation_p.P118A|ANXA11_ENST00000422982.3_Missense_Mutation_p.P118A	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	118					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.P118A(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGATATGAGGGCATCCTGGAG	0.697																																						uc001kbq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(352-354)CCC>GCC		annexin A11							11.0	15.0	14.0					10																	81928934		2185	4270	6455	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81928934G>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.352C>G	10.37:g.81928934G>C	ENSP00000398610:p.Pro118Ala					ANXA11_uc010qlx.1_Missense_Mutation_p.P218A|ANXA11_uc001kbr.1_Missense_Mutation_p.P118A|ANXA11_uc001kbs.1_Missense_Mutation_p.P118A|ANXA11_uc001kbt.1_Missense_Mutation_p.P118A|ANXA11_uc010qly.1_Missense_Mutation_p.P85A|ANXA11_uc009xsq.1_Missense_Mutation_p.P118A|ANXA11_uc001kbu.1_Missense_Mutation_p.P118A	p.P118A	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		6	1177	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		118					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.352C>G	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.12|13.12	2.142159|2.142159	0.37825|0.37825	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000424188|ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	.|T;T;T;T;T;T;T	.|0.01998	.|4.52;4.52;4.52;4.52;4.52;4.52;4.51	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.296357	.|0.35936	.|N	.|0.002887	T|T	0.05135|0.05135	0.0137|0.0137	L|L	0.50333|0.50333	1.59|1.59	0.36597|0.36597	D|D	0.87445|0.87445	.|D;P;P	.|0.55172	.|0.97;0.9;0.9	.|P;B;B	.|0.49332	.|0.607;0.307;0.307	T|T	0.56908|0.56908	-0.7901|-0.7901	6|10	0.26408|0.20519	T|T	0.33|0.43	.|.	16.9333|16.9333	0.86196|0.86196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|218;118;118	.|B7Z6L0;Q5T0G8;P50995	.|.;.;ANX11_HUMAN	G|A	44|118;118;118;118;118;118;118;85;118;118	.|ENSP00000361305:P118A;ENSP00000404412:P118A;ENSP00000398610:P118A;ENSP00000353827:P118A;ENSP00000265447:P118A;ENSP00000441748:P118A;ENSP00000441400:P85A	ENSP00000410826:A44G|ENSP00000265447:P118A	A|P	-|-	2|1	0|0	ANXA11|ANXA11	81918914|81918914	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.564000|0.564000	0.35744|0.35744	5.185000|5.185000	0.65076|0.65076	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GCC|CCC		PASS	0.697	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		2	5	2	5	---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102052704	102052704	+	Splice_Site	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:102052704C>G	ENST00000318222.3	-	11	2263		c.e11+1		PKD2L1_ENST00000338519.3_Splice_Site|PKD2L1_ENST00000353274.3_Splice_Site	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.?(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGTTGCTCACTCCCTTAAGG	0.488																																						uc001kqx.1																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e11+1		polycystic kidney disease 2-like 1							151.0	132.0	139.0					10																	102052704		2203	4300	6503	SO:0001630	splice_region_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102052704C>G	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1880+1G>C	10.37:g.102052704C>G						PKD2L1_uc009xwm.1_Splice_Site_p.E580_splice	p.E627_splice	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	11	2263	-		Colorectal(252;0.117)						O75972|Q5W039|Q9UP35|Q9UPA2	Splice_Site	SNP	ENST00000318222.3	37	c.1880_splice	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569420	0.65765	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD2L1	102042694	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	5.515000	0.67049	2.873000	0.98535	0.561000	0.74099	.		PASS	0.488	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	Intron	10	38	10	38	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112258016	112258016	+	Missense_Mutation	SNP	A	A	T	rs149325838		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:112258016A>T	ENST00000369583.3	+	1	421	c.137A>T	c.(136-138)aAc>aTc	p.N46I	RP11-525A16.4_ENST00000609514.1_lincRNA	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	46	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N46I(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CTCAACGTCAACCTCAACTCG	0.746																																						uc001kzd.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(136-138)AAC>ATC		dual specificity phosphatase 5							19.0	20.0	20.0					10																	112258016		2102	4125	6227	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112258016A>T	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.137A>T	10.37:g.112258016A>T	ENSP00000358596:p.Asn46Ile						p.N46I	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	1	392	+		Breast(234;0.0848)	46			Rhodanese.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.137A>T	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	a	36	5.624721	0.96660	.	.	ENSG00000138166	ENST00000369583	T	0.44881	0.91	4.98	4.98	0.66077	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.76574	2.34	0.80722	D	1	D	0.61080	0.989	D	0.65323	0.934	T	0.66575	-0.5889	10	0.62326	D	0.03	.	13.8579	0.63540	1.0:0.0:0.0:0.0	.	46	Q16690	DUS5_HUMAN	I	46	ENSP00000358596:N46I	ENSP00000358596:N46I	N	+	2	0	DUSP5	112248006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.367000	0.59498	1.872000	0.54250	0.378000	0.23410	AAC		PASS	0.746	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		6	23	6	23	---	---	---	---
PWWP2B	170394	broad.mit.edu	37	10	134218192	134218192	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:134218192A>G	ENST00000305233.5	+	2	247	c.188A>G	c.(187-189)aAc>aGc	p.N63S	PWWP2B_ENST00000368609.4_Missense_Mutation_p.N63S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	63								p.N63S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TCCCCTGTCAACGACAGCCAT	0.677																																						uc001lll.3																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)AAC>AGC		PWWP domain containing 2 isoform 1							97.0	107.0	104.0					10																	134218192		2145	4283	6428	SO:0001583	missense	170394							g.chr10:134218192A>G	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.188A>G	10.37:g.134218192A>G	ENSP00000306324:p.Asn63Ser					PWWP2B_uc009ybe.2_Missense_Mutation_p.N63S	p.N63S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	217	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	63					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.188A>G	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	2.714	-0.268027	0.05716	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.54071	0.59;1.58	4.26	-2.15	0.07102	.	6.892780	0.01415	U	0.014172	T	0.30417	0.0764	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05801	-1.0863	10	0.16420	T	0.52	-1.557	2.8014	0.05415	0.2098:0.1311:0.4983:0.1608	.	63	Q6NUJ5	PWP2B_HUMAN	S	63	ENSP00000306324:N63S;ENSP00000357598:N63S	ENSP00000306324:N63S	N	+	2	0	PWWP2B	134068182	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.010000	0.12743	-0.321000	0.08627	-0.376000	0.06991	AAC		PASS	0.677	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		28	88	28	88	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134912164	134912164	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:134912164A>G	ENST00000392607.3	+	4	588	c.152A>G	c.(151-153)aAg>aGg	p.K51R	GPR123_ENST00000607359.1_Missense_Mutation_p.K771R	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	51					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K51R(1)|p.K771R(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATCAGCCGCAAGGGCCGGCAC	0.652																																						uc001llx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(151-153)AAG>AGG		G protein-coupled receptor 123							64.0	58.0	60.0					10																	134912164		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134912164A>G	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.152A>G	10.37:g.134912164A>G	ENSP00000376384:p.Lys51Arg					GPR123_uc001llw.2_Missense_Mutation_p.K771R	p.K51R	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	4	588	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	51			Cytoplasmic (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.152A>G	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666774	0.29604	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.44083	0.93	4.35	1.9	0.25705	GPCR, family 2-like (1);	0.703847	0.12111	N	0.498524	T	0.46946	0.1419	L	0.50333	1.59	0.22710	N	0.99883	P;P	0.40534	0.708;0.72	P;P	0.50570	0.644;0.628	T	0.37174	-0.9717	10	0.59425	D	0.04	-4.6552	7.685	0.28536	0.7747:0.14:0.0853:0.0	.	51;771	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	R	771;771;51	ENSP00000376384:K51R	ENSP00000357566:K771R	K	+	2	0	GPR123	134762154	1.000000	0.71417	0.009000	0.14445	0.025000	0.11179	3.018000	0.49625	-0.108000	0.12066	-1.139000	0.01908	AAG		PASS	0.652	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			17	32	17	32	---	---	---	---
PAOX	196743	broad.mit.edu	37	10	135193889	135193889	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:135193889C>G	ENST00000278060.5	+	2	651	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	PAOX_ENST00000480071.2_Missense_Mutation_p.L190V|PAOX_ENST00000357296.3_Missense_Mutation_p.L190V|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	328					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.L190V(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)		CTTCTTCAACCTGGAATGCTG	0.597																																						uc001lmv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(568-570)CTG>GTG		polyamine oxidase isoform 1							34.0	36.0	36.0					10																	135193889		2203	4299	6502	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135193889C>G	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.568C>G	10.37:g.135193889C>G	ENSP00000278060:p.Leu190Val					PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.L190V|PAOX_uc001lmy.2_Missense_Mutation_p.L190V|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_Intron|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_Intron	p.L190V	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)	2	648	+		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)	328					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.568C>G	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	C	0.224	-1.025997	0.02045	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071;ENST00000368534	D;D;D	0.92595	-3.07;-3.07;-3.07	4.74	-9.47	0.00594	.	0.834691	0.10875	N	0.624455	T	0.80859	0.4704	L	0.42632	1.34	0.45066	D	0.998083	B;B;B	0.24043	0.096;0.036;0.018	B;B;B	0.24006	0.05;0.044;0.019	T	0.60831	-0.7185	10	0.07813	T	0.8	-1.5436	4.007	0.09605	0.2339:0.4856:0.116:0.1644	.	190;190;190	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	V	190;190;190;190;61	ENSP00000278060:L190V;ENSP00000349847:L190V;ENSP00000435514:L190V	ENSP00000278060:L190V	L	+	1	2	PAOX	135043879	0.000000	0.05858	0.005000	0.12908	0.652000	0.38707	-0.917000	0.04025	-2.091000	0.00858	-1.092000	0.02172	CTG		PASS	0.597	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		7	28	7	28	---	---	---	---
SYCE1	93426	broad.mit.edu	37	10	135369308	135369308	+	Missense_Mutation	SNP	C	C	T	rs150742469		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr10:135369308C>T	ENST00000343131.5	-	10	799	c.695G>A	c.(694-696)cGc>cAc	p.R232H	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.R196H|SYCE1_ENST00000368517.3_Missense_Mutation_p.R196H	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	232					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.R232H(2)|p.R196H(2)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTCCTGGCTGCGGAGAAAGAG	0.642																																						uc001lno.2																			4	Substitution - Missense(4)		prostate(2)|lung(2)	ovary(1)	1						c.(694-696)CGC>CAC		synaptonemal complex central element protein 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	43.0	43.0		695,695,587	3.5	1.0	10	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SYCE1	NM_001143763.1,NM_001143764.1,NM_130784.2	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	232/319,232/352,196/283	135369308	2,13004	2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135369308C>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.695G>A	10.37:g.135369308C>T	ENSP00000341282:p.Arg232His					CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.R104H|SYCE1_uc009ybn.2_Missense_Mutation_p.R232H|SYCE1_uc001lnn.2_Missense_Mutation_p.R196H	p.R232H	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	10	800	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	232			Potential.		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.695G>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114959	0.37339	2.27E-4	1.16E-4	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.35973	1.28;2.91;2.91;2.91	4.38	3.48	0.39840	.	0.000000	0.64402	D	0.000004	T	0.51686	0.1689	L	0.61218	1.895	0.30487	N	0.77174	B;D;D	0.89917	0.357;1.0;1.0	B;D;D	0.85130	0.072;0.997;0.997	T	0.51772	-0.8663	10	0.45353	T	0.12	-11.2554	8.388	0.32512	0.0:0.8952:0.0:0.1048	.	104;232;196	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	H	232;196;196;232	ENSP00000303978:R232H;ENSP00000411779:R196H;ENSP00000357503:R196H;ENSP00000341282:R232H	ENSP00000303978:R232H	R	-	2	0	SYCE1	135219298	1.000000	0.71417	0.992000	0.48379	0.193000	0.23685	1.371000	0.34250	1.451000	0.47736	-0.136000	0.14681	CGC		PASS	0.642	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		14	19	14	19	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1267408	1267408	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:1267408C>A	ENST00000529681.1	+	31	9356	c.9298C>A	c.(9298-9300)Ccg>Acg	p.P3100T	MUC5B_ENST00000447027.1_Missense_Mutation_p.P3103T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3100	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.P3079T(1)|p.P3100T(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)		CTCCTCCACTCCGGAGACCAC	0.642																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(11047-11049)CCG>ACG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							80.0	107.0	98.0					11																	1267408		2106	4209	6315	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267408C>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.9298C>A	11.37:g.1267408C>A	ENSP00000436812:p.Pro3100Thr					MUC5B_uc001ltb.2_Missense_Mutation_p.P3103T	p.P3683T	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	11173	+		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)	3100	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.11047C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	2.959	-0.215001	0.06101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16597	2.33;2.51	2.42	-4.84	0.03151	.	.	.	.	.	T	0.13372	0.0324	M	0.65975	2.015	0.09310	N	1	B;B	0.26081	0.141;0.141	B;B	0.17722	0.019;0.019	T	0.28038	-1.0056	9	0.87932	D	0	.	0.8086	0.01089	0.335:0.2573:0.2317:0.176	.	3683;3103	A7Y9J9;E9PBJ0	.;.	T	3100;3103;3072;3060	ENSP00000436812:P3100T;ENSP00000415793:P3103T	ENSP00000343037:P3072T	P	+	1	0	MUC5B	1223984	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.274000	0.00531	-1.939000	0.01044	0.121000	0.15741	CCG		PASS	0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		12	31	12	31	---	---	---	---
OR51Q1	390061	broad.mit.edu	37	11	5443646	5443647	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:5443646_5443647CC>AA	ENST00000300778.4	+	1	306_307	c.216_217CC>AA	c.(214-219)gaCCtg>gaAAtg	p.72_73DL>EM	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D72E(2)|p.L73M(2)|p.D72_L73>EM(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGACGGACCTGGGTCTCAC	0.53																																						uc010qzd.1																			5	Substitution - Missense(4)|Complex - compound substitution(1)		lung(5)	ovary(1)	1						c.(214-216)GAC>GAA|c.(217-219)CTG>ATG		olfactory receptor, family 51, subfamily Q,																																				SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443646C>A|g.chr11:5443647C>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	Exception_encountered	11.37:g.5443646_5443647delinsAA	ENSP00000300778:p.D72_L73delinsEM					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.D72E|p.L73M	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	216|217	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	72|73			Helical; Name=2; (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.216C>A|c.217C>A	CCDS31381.1																																																																																				PASS	0.530	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		29	63	29	63	---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5632516	5632516	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:5632516T>C	ENST00000278302.5	+	8	1551	c.1411T>C	c.(1411-1413)Tat>Cat	p.Y471H	TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.Y296H|TRIM6_ENST00000380097.3_Missense_Mutation_p.Y499H|TRIM6_ENST00000507320.1_Missense_Mutation_p.Y296H|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.Y296H|TRIM6_ENST00000380107.1_Missense_Mutation_p.Y445H|TRIM6_ENST00000515022.1_Missense_Mutation_p.Y296H|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	471	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.Y499H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCTTTGTCCATATTTTAATCC	0.413																																						uc001mbc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1411-1413)TAT>CAT		tripartite motif-containing 6 isoform 2							121.0	121.0	121.0					11																	5632516		2201	4297	6498	SO:0001583	missense	117854				protein trimerization	cytoplasm	zinc ion binding	g.chr11:5632516T>C	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1411T>C	11.37:g.5632516T>C	ENSP00000278302:p.Tyr471His					HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.Y445H|TRIM6_uc010qzj.1_Missense_Mutation_p.Y296H|TRIM6_uc001mbe.2_Missense_Mutation_p.Y296H|TRIM6_uc010qzk.1_Missense_Mutation_p.Y296H|TRIM6_uc010qzl.1_Missense_Mutation_p.Y296H|TRIM6_uc001mbd.2_Missense_Mutation_p.Y499H|TRIM6_uc001mbg.1_Missense_Mutation_p.Y296H|TRIM6_uc009yep.1_3'UTR	p.Y471H	NM_058166	NP_477514	Q9C030	TRIM6_HUMAN		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	8	1543	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)	471			B30.2/SPRY.		A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.1411T>C	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.708109	0.68615	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.07	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.86037	0.5837	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.992;0.996;0.998	D	0.89460	0.3736	9	0.87932	D	0	.	11.6413	0.51235	0.0:0.0:0.0:1.0	.	445;499;471	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	H	471;296;445;499;296;378;296;296	ENSP00000278302:Y471H;ENSP00000427704:Y296H;ENSP00000369450:Y445H;ENSP00000369440:Y499H;ENSP00000399215:Y296H;ENSP00000421802:Y296H;ENSP00000421079:Y296H	ENSP00000278302:Y471H	Y	+	1	0	TRIM6	5589092	1.000000	0.71417	0.944000	0.38274	0.746000	0.42486	3.908000	0.56355	2.079000	0.62486	0.402000	0.26972	TAT		PASS	0.413	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		36	79	36	79	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6262857	6262857	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:6262857G>C	ENST00000379936.2	+	5	1229	c.1114G>C	c.(1114-1116)Ggt>Cgt	p.G372R	CNGA4_ENST00000533426.1_Missense_Mutation_p.G141R	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	372					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.G372R(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACTCACCAGGTGAATATGT	0.557																																						uc001mco.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1114-1116)GGT>CGT		cyclic nucleotide gated channel alpha 4							186.0	165.0	172.0					11																	6262857		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262857G>C	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1114G>C	11.37:g.6262857G>C	ENSP00000369268:p.Gly372Arg					CNGA4_uc010raa.1_Missense_Mutation_p.G141R|CNGA4_uc001mcn.2_Missense_Mutation_p.G332R	p.G372R	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1221	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	372			cNMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.1114G>C	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587857	0.86851	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.96104	-3.91;-3.91	5.19	5.19	0.71726	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	D	0.99032	1.0821	10	0.87932	D	0	.	17.4408	0.87564	0.0:0.0:1.0:0.0	.	141;372;332	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	R	141;372	ENSP00000433399:G141R;ENSP00000369268:G372R	ENSP00000369268:G372R	G	+	1	0	CNGA4	6219433	1.000000	0.71417	0.599000	0.28851	0.939000	0.58152	9.263000	0.95617	2.691000	0.91804	0.655000	0.94253	GGT		PASS	0.557	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		25	64	25	64	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898394	6898394	+	Silent	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:6898394C>A	ENST00000379829.2	+	1	539	c.516C>A	c.(514-516)ccC>ccA	p.P172P		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	172					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P172P(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTGTGGCCCCAACAGGGTGA	0.527																																						uc010rat.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(514-516)CCC>CCA		olfactory receptor, family 10, subfamily A,							101.0	91.0	94.0					11																	6898394		2201	4296	6497	SO:0001819	synonymous_variant	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898394C>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.516C>A	11.37:g.6898394C>A							p.P172P	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	516	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	172			Extracellular (Potential).		B2RNP5|B9EH36|Q96R20	Silent	SNP	ENST00000379829.2	37	c.516C>A	CCDS7774.1																																																																																				PASS	0.527	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		19	42	19	42	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7982313	7982313	+	Silent	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:7982313T>A	ENST00000328600.2	-	2	1007	c.846A>T	c.(844-846)acA>acT	p.T282T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	282	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.T282T(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)		ACGTGGGGAGTGTATGTCTCC	0.522																																						uc001mfv.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(844-846)ACA>ACT		NLR family, pyrin domain containing 10							101.0	101.0	101.0					11																	7982313		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982313T>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.846A>T	11.37:g.7982313T>A							p.T282T	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	863	-			282			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.846A>T	CCDS7784.1																																																																																				PASS	0.522	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		28	50	28	50	---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45203858	45203858	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:45203858G>T	ENST00000530656.1	+	3	283	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	PRDM11_ENST00000263765.4_Missense_Mutation_p.D95Y|PRDM11_ENST00000424263.2_Missense_Mutation_p.D61Y			Q9NQV5	PRD11_HUMAN	PR domain containing 11	95							methyltransferase activity (GO:0008168)	p.D95Y(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGGGAAGCGCGACCTCATCGT	0.592																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(283-285)GAC>TAC		PR domain containing 11							82.0	75.0	77.0					11																	45203858		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45203858G>T	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.283G>T	11.37:g.45203858G>T	ENSP00000435976:p.Asp95Tyr						p.D95Y	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			4	532	+			95					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.283G>T		.	.	.	.	.	.	.	.	.	.	G	17.23	3.337249	0.60963	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.01	5.01	0.66863	.	0.307323	0.27673	N	0.018330	T	0.44850	0.1313	L	0.46157	1.445	0.41553	D	0.988581	P	0.35155	0.487	B	0.34385	0.181	T	0.45293	-0.9271	10	0.42905	T	0.14	-18.0333	18.3111	0.90200	0.0:0.0:1.0:0.0	.	95	Q9NQV5	PRD11_HUMAN	Y	95;95;61;61	ENSP00000263765:D95Y;ENSP00000435976:D95Y;ENSP00000431898:D61Y;ENSP00000394314:D61Y	ENSP00000263765:D95Y	D	+	1	0	PRDM11	45160434	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.658000	0.74407	2.331000	0.79229	0.491000	0.48974	GAC		PASS	0.592	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		3	20	3	20	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48267363	48267363	+	Silent	SNP	C	C	T	rs144663280	byFrequency	TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:48267363C>T	ENST00000302329.3	+	1	756	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F236F(2)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCCATTTCGCTGTGGTTA	0.522													C|||	4	0.000798722	0.003	0.0	5008	,	,		21046	0.0		0.0	False		,,,				2504	0.0					uc001ngs.1																			2	Substitution - coding silent(2)		lung(1)|pancreas(1)		0						c.(706-708)TTC>TTT		olfactory receptor, family 4, subfamily X,		C		4,4398	9.9+/-24.2	0,4,2197	101.0	88.0	92.0		708	-0.1	0.0	11	dbSNP_134	92	0,8596		0,0,4298	no	coding-synonymous	OR4X2	NM_001004727.1		0,4,6495	TT,TC,CC		0.0,0.0909,0.0308		236/304	48267363	4,12994	2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267363C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.708C>T	11.37:g.48267363C>T							p.F236F	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	708	+			236			Helical; Name=6; (Potential).		B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.708C>T	CCDS31486.1																																																																																				PASS	0.522	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		14	18	14	18	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587447	55587447	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:55587447T>C	ENST00000333976.4	+	1	362	c.342T>C	c.(340-342)ttT>ttC	p.F114F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F114F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTGAATCCTTTTTATTAGCTG	0.438																																						uc010rin.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(340-342)TTT>TTC		olfactory receptor, family 5, subfamily D,							160.0	161.0	160.0					11																	55587447		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587447T>C	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.342T>C	11.37:g.55587447T>C							p.F114F	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	342	+		all_epithelial(135;0.208)	114			Helical; Name=3; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.342T>C	CCDS31510.1																																																																																				PASS	0.438	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		46	112	46	112	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944433	55944433	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:55944433T>C	ENST00000312298.1	+	1	340	c.340T>C	c.(340-342)Tta>Cta	p.L114L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGAAGGCTTCTTACTGTCAGT	0.473																																						uc010rjb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(340-342)TTA>CTA		olfactory receptor, family 5, subfamily J,							157.0	138.0	145.0					11																	55944433		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944433T>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.340T>C	11.37:g.55944433T>C							p.L114L	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	340	+	Esophageal squamous(21;0.00693)		114			Helical; Name=3; (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.340T>C	CCDS31522.1																																																																																				PASS	0.473	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		24	67	24	67	---	---	---	---
CD5	921	broad.mit.edu	37	11	60889118	60889118	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:60889118G>A	ENST00000347785.3	+	6	1007	c.841G>A	c.(841-843)Ggc>Agc	p.G281S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	281	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.G281S(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCTGGTGGGGGGCAGCAGCAT	0.637																																						uc009ynk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)GGC>AGC		CD5 molecule precursor							42.0	39.0	40.0					11																	60889118		2203	4297	6500	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60889118G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.841G>A	11.37:g.60889118G>A	ENSP00000342681:p.Gly281Ser						p.G281S	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	6	944	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	281			Extracellular (Potential).|SRCR 3.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.841G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378724	0.82682	.	.	ENSG00000110448	ENST00000347785	T	0.57595	0.39	5.61	3.73	0.42828	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.191661	0.36555	N	0.002537	T	0.71247	0.3317	M	0.85041	2.73	0.40994	D	0.984873	D	0.76494	0.999	D	0.73708	0.981	T	0.73222	-0.4051	10	0.66056	D	0.02	-22.0601	8.7934	0.34866	0.0791:0.1508:0.7701:0.0	.	281	P06127	CD5_HUMAN	S	281	ENSP00000342681:G281S	ENSP00000342681:G281S	G	+	1	0	CD5	60645694	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.830000	0.39131	0.717000	0.32145	0.561000	0.74099	GGC		PASS	0.637	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	24	5	24	---	---	---	---
TSGA10IP	254187	broad.mit.edu	37	11	65721086	65721086	+	RNA	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:65721086G>T	ENST00000532620.1	+	0	1431				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.Q370H(1)		endometrium(2)|kidney(3)|lung(9)	14						AGCGGCAGCAGGCCGAGCTGC	0.721																																						uc001ogk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1198-1200)CAG>CAT		testis specific, 10 interacting protein							27.0	33.0	31.0					11																	65721086		1628	3583	5211			254187							g.chr11:65721086G>T	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65721086G>T						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA	p.Q400H	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			7	1232	+			400			Potential.		Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37	c.1200G>T																																																																																					PASS	0.721	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		12	27	12	27	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75442316	75442316	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:75442316C>G	ENST00000198801.5	+	6	1060	c.990C>G	c.(988-990)caC>caG	p.H330Q	MOGAT2_ENST00000526712.1_Missense_Mutation_p.H248Q	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	330					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.H330Q(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTGACCAGCACTTGGAGTTCT	0.537																																						uc010rru.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(988-990)CAC>CAG		monoacylglycerol O-acyltransferase 2							88.0	77.0	81.0					11																	75442316		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442316C>G	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.990C>G	11.37:g.75442316C>G	ENSP00000198801:p.His330Gln					MOGAT2_uc010rrv.1_Missense_Mutation_p.H248Q	p.H330Q	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			6	990	+	Ovarian(111;0.103)		330					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.990C>G	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483679	0.26598	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.12879	2.64;2.64	6.17	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.71036	2.16	0.53005	D	0.999969	D	0.63880	0.993	D	0.70716	0.97	T	0.01018	-1.1479	10	0.30854	T	0.27	-10.3589	9.6184	0.39706	0.0:0.7147:0.0:0.2853	.	330	Q3SYC2	MOGT2_HUMAN	Q	330;248	ENSP00000198801:H330Q;ENSP00000436283:H248Q	ENSP00000198801:H330Q	H	+	3	2	MOGAT2	75119964	0.133000	0.22466	0.941000	0.38009	0.753000	0.42808	-0.245000	0.08890	0.179000	0.19938	-0.140000	0.14226	CAC		PASS	0.537	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		9	34	9	34	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85418532	85418532	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:85418532G>T	ENST00000528231.1	-	13	2320	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	SYTL2_ENST00000359152.5_Silent_p.G1527G|SYTL2_ENST00000524452.1_Silent_p.G657G|SYTL2_ENST00000533892.1_Silent_p.G83G|SYTL2_ENST00000525423.1_Silent_p.G1003G|SYTL2_ENST00000525702.1_Silent_p.G123G|SYTL2_ENST00000389960.4_Silent_p.G657G|SYTL2_ENST00000529581.1_Silent_p.G123G|SYTL2_ENST00000389958.3_Silent_p.G112G|SYTL2_ENST00000354566.3_Silent_p.G1019G|SYTL2_ENST00000527523.1_Silent_p.G649G|SYTL2_ENST00000316356.4_Silent_p.G682G	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	681	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.G682G(1)|p.G1019G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTCTTCTTGCCCATTTTGC	0.373																																						uc010rth.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(2041-2043)GGC>GGA		synaptotagmin-like 2 isoform g							252.0	224.0	234.0					11																	85418532		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85418532G>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2043C>A	11.37:g.85418532G>T						SYTL2_uc010rtg.1_Silent_p.G682G|SYTL2_uc010rti.1_Silent_p.G657G|SYTL2_uc010rtj.1_Silent_p.G649G|SYTL2_uc001pav.2_Silent_p.G123G|SYTL2_uc010rte.1_Silent_p.G83G|SYTL2_uc001pax.2_Silent_p.G123G|SYTL2_uc001paz.2_Silent_p.G2G|SYTL2_uc001pba.2_Silent_p.G66G|SYTL2_uc001pay.2_Silent_p.G112G|SYTL2_uc001paw.2_Silent_p.G83G|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.G979G|SYTL2_uc001pbb.2_Silent_p.G1019G|SYTL2_uc001pbc.2_Silent_p.G1003G|SYTL2_uc010rtf.1_Silent_p.G499G	p.G681G	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	13	2319	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	681			C2 1.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.2043C>A	CCDS53688.1																																																																																				PASS	0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		17	77	17	77	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124743597	124743597	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:124743597C>A	ENST00000397801.1	+	11	1815	c.1623C>A	c.(1621-1623)gaC>gaA	p.D541E	ROBO3_ENST00000538940.1_Missense_Mutation_p.D519E	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	541					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.D541E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTGCAGAAGACTGGGGAGTAT	0.522																																						uc001qbc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1621-1623)GAC>GAA		roundabout, axon guidance receptor, homolog 3							30.0	34.0	33.0					11																	124743597		1862	4091	5953	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743597C>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1623C>A	11.37:g.124743597C>A	ENSP00000380903:p.Asp541Glu						p.D541E	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	11	1815	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	541			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.1623C>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	6.777	0.512270	0.12944	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.62105	0.05;0.06	5.45	-10.9	0.00192	.	0.527383	0.15788	N	0.244604	T	0.35038	0.0918	N	0.14661	0.345	0.18873	N	0.999987	B	0.26258	0.145	B	0.23275	0.045	T	0.09618	-1.0666	10	0.39692	T	0.17	.	13.8292	0.63370	0.1052:0.6448:0.0:0.2501	.	541	Q96MS0	ROBO3_HUMAN	E	541;519	ENSP00000380903:D541E;ENSP00000441797:D519E	ENSP00000380903:D541E	D	+	3	2	ROBO3	124248807	0.000000	0.05858	0.026000	0.17262	0.733000	0.41908	-2.028000	0.01431	-2.319000	0.00643	-1.155000	0.01812	GAC		PASS	0.522	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	23	4	23	---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124794863	124794863	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:124794863T>A	ENST00000298251.4	-	2	593	c.188A>T	c.(187-189)gAc>gTc	p.D63V		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule									p.D63V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TACAGGCCTGTCGCTGCTGGT	0.622																																						uc001qbk.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(187-189)GAC>GTC		hepatocyte cell adhesion molecule precursor							84.0	71.0	75.0					11																	124794863		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124794863T>A	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.188A>T	11.37:g.124794863T>A	ENSP00000298251:p.Asp63Val					HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.D63V	p.D63V	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	594	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	63			Extracellular (Potential).|Ig-like V-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.188A>T	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429487	0.83776	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.26518	1.73	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	M	0.70595	2.14	0.80722	D	1	B;D	0.89917	0.383;1.0	B;D	0.97110	0.316;1.0	T	0.53802	-0.8387	10	0.66056	D	0.02	-36.509	16.2167	0.82231	0.0:0.0:0.0:1.0	.	63;63	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	V	63	ENSP00000298251:D63V	ENSP00000298251:D63V	D	-	2	0	HEPACAM	124300073	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	6.268000	0.72552	2.234000	0.73211	0.460000	0.39030	GAC		PASS	0.622	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		14	39	14	39	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126136409	126136409	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:126136409C>G	ENST00000332118.6	-	6	956	c.802G>C	c.(802-804)Gga>Cga	p.G268R	SRPR_ENST00000532259.1_Missense_Mutation_p.G240R|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000532125.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	268					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.G268R(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCAGGGGTTCCATTGGTGGTG	0.502																																						uc001qdh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GGA>CGA		signal recognition particle receptor							107.0	109.0	108.0					11																	126136409		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126136409C>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.802G>C	11.37:g.126136409C>G	ENSP00000328023:p.Gly268Arg					SRPR_uc010sbm.1_Missense_Mutation_p.G240R|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	p.G268R	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	6	853	-	all_hematologic(175;0.145)		268					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.802G>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425933	0.43020	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.65	5.65	0.86999	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.101850	0.64402	D	0.000002	T	0.67183	0.2866	M	0.69823	2.125	0.80722	D	1	B;B	0.28258	0.205;0.049	B;B	0.28553	0.091;0.091	T	0.62618	-0.6816	9	0.15066	T	0.55	-11.5841	19.9142	0.97043	0.0:1.0:0.0:0.0	.	240;268	E9PJS4;P08240	.;SRPR_HUMAN	R	268;240	.	ENSP00000328023:G268R	G	-	1	0	SRPR	125641619	0.995000	0.38212	0.932000	0.37286	0.715000	0.41141	4.801000	0.62532	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.502	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		23	52	23	52	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130319592	130319592	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr11:130319592C>G	ENST00000299164.2	+	1	724	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	242	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L242V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAACATTATCTGCTGACGCT	0.602											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010scd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(724-726)CTG>GTG		a disintegrin-like and metalloprotease							38.0	37.0	37.0					11																	130319592		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130319592C>G	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.724C>G	11.37:g.130319592C>G	ENSP00000299164:p.Leu242Val		OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1579		p.L242V	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	724	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	242			Peptidase M12B.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.724C>G	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496551	0.44352	.	.	ENSG00000166106	ENST00000299164	T	0.56776	0.44	4.68	2.82	0.32997	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.34948	0.0915	L	0.27053	0.805	0.58432	D	0.999992	B	0.32862	0.387	B	0.29942	0.109	T	0.05920	-1.0856	9	0.18276	T	0.48	.	11.3741	0.49717	0.0:0.8513:0.0:0.1487	.	242	Q8TE58	ATS15_HUMAN	V	242	ENSP00000299164:L242V	ENSP00000299164:L242V	L	+	1	2	ADAMTS15	129824802	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	1.086000	0.30853	0.700000	0.31782	-0.137000	0.14449	CTG		PASS	0.602	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		3	5	3	5	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12336941	12336941	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:12336941G>A	ENST00000261349.4	-	5	1025	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	LRP6_ENST00000543091.1_Silent_p.L317L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	317	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L317L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCATTCTCCAGGAGTTTGACC	0.368																																						uc001rah.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(949-951)CTG>TTG		low density lipoprotein receptor-related protein							83.0	84.0	84.0					12																	12336941		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12336941G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.949C>T	12.37:g.12336941G>A						BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.L317L	p.L317L	NM_002336	NP_002327	O75581	LRP6_HUMAN			5	1091	-		Prostate(47;0.0865)	317			Extracellular (Potential).|EGF-like 1.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.949C>T	CCDS8647.1																																																																																				PASS	0.368	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			12	42	12	42	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57957917	57957917	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:57957917G>A	ENST00000455537.2	+	4	592	c.318G>A	c.(316-318)atG>atA	p.M106I	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.M106I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTCAGCTGATGGGAATCATTC	0.517																																						uc001sor.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(316-318)ATG>ATA		kinesin family member 5A							100.0	84.0	90.0					12																	57957917		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957917G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.318G>A	12.37:g.57957917G>A	ENSP00000408979:p.Met106Ile					KIF5A_uc010srr.1_Intron	p.M106I	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			4	526	+			106			Kinesin-motor.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.318G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063884	0.93898	.	.	ENSG00000155980	ENST00000455537	T	0.74526	-0.85	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	N	0.25060	0.705	0.80722	D	1	D	0.63880	0.993	D	0.65140	0.932	T	0.80616	-0.1303	10	0.72032	D	0.01	.	17.3316	0.87265	0.0:0.0:1.0:0.0	.	106	Q12840	KIF5A_HUMAN	I	106	ENSP00000408979:M106I	ENSP00000408979:M106I	M	+	3	0	KIF5A	56244184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.431000	0.97494	2.691000	0.91804	0.655000	0.94253	ATG		PASS	0.517	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		15	41	15	41	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69218345	69218345	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:69218345A>C	ENST00000350057.5	+	5	344	c.344A>C	c.(343-345)cAa>cCa	p.Q115P	MDM2_ENST00000356290.4_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.Q146P|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	140					cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q146P(1)|p.Q140P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GACCTTGTACAAGAGCTTCAG	0.328			A		"""sarcoma, glioma, colorectal, other"""																																	uc001sui.2				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			sarcoma|glioma|colorectal|other		2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(1)	3						c.(436-438)CAA>CCA		mouse double minute 2 homolog isoform MDM2							95.0	88.0	90.0					12																	69218345		1820	4074	5894	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69218345A>C		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.344A>C	12.37:g.69218345A>C	ENSP00000266624:p.Gln115Pro					MDM2_uc009zri.2_Missense_Mutation_p.Q101P|MDM2_uc009zqx.2_Intron|MDM2_uc009zqw.2_Missense_Mutation_p.Q146P|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.Q135P|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.Q140P|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	p.Q146P	NM_002392	NP_002383	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		7	724	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		140					A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.437A>C		.	.	.	.	.	.	.	.	.	.	A	12.67	2.009014	0.35415	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000311440;ENST00000311420;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T	0.50001	1.36;0.76;1.37	5.55	4.39	0.52855	.	0.371511	0.31809	N	0.007022	T	0.63248	0.2495	M	0.63843	1.955	0.80722	D	1	P;D;D;P	0.76494	0.913;0.998;0.999;0.913	P;D;D;P	0.83275	0.646;0.986;0.996;0.625	T	0.62177	-0.6909	9	.	.	.	-9.4614	11.3848	0.49778	0.8482:0.1518:0.0:0.0	.	95;140;140;146	Q00987-9;Q00987;Q8NDW2;Q00987-11	.;MDM2_HUMAN;.;.	P	146;95;140;101;140;140;171;115	ENSP00000417281:Q146P;ENSP00000444430:Q140P;ENSP00000266624:Q115P	.	Q	+	2	0	MDM2	67504612	1.000000	0.71417	0.935000	0.37517	0.090000	0.18270	3.172000	0.50832	1.026000	0.39733	-0.446000	0.05623	CAA		PASS	0.328	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		9	27	9	27	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78571406	78571406	+	Silent	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:78571406C>A	ENST00000397909.2	+	28	5477	c.5304C>A	c.(5302-5304)ccC>ccA	p.P1768P	NAV3_ENST00000536525.2_Intron|NAV3_ENST00000228327.6_Intron|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1768						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGGTCACCCCTTGTCTGGC	0.428										HNSCC(70;0.22)																												uc001syp.2																			0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5302-5304)CCC>CCA		neuron navigator 3							68.0	60.0	62.0					12																	78571406		876	1991	2867	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78571406C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5304C>A	12.37:g.78571406C>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron	p.P1768P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			28	5477	+			1768					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.5304C>A																																																																																					PASS	0.428	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	10	8	10	---	---	---	---
CLLU1OS	574016	broad.mit.edu	37	12	92821903	92821903	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:92821903T>C	ENST00000378487.2	-	1	21	c.20A>G	c.(19-21)aAc>aGc	p.N7S	CLLU1OS_ENST00000538965.1_Missense_Mutation_p.N7S|CLLU1_ENST00000378485.1_Intron|CLLU1_ENST00000472839.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	7								p.N7S(1)		large_intestine(1)|lung(7)	8						cttaagttcgttgtgccccaa	0.423																																						uc001tcb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)AAC>AGC		chronic lymphocytic leukemia up-regulated 1							240.0	201.0	214.0					12																	92821903		2203	4300	6503	SO:0001583	missense	574016							g.chr12:92821903T>C	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"""chronic lymphocytic leukemia up-regulated 1 overlapping strand"""				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.20A>G	12.37:g.92821903T>C	ENSP00000367748:p.Asn7Ser					CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_Intron	p.N7S	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN			1	22	-			7						Missense_Mutation	SNP	ENST00000378487.2	37	c.20A>G	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	T	3.147	-0.175082	0.06421	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	2.81	0.487	0.16842	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.20672	-1.0268	8	0.87932	D	0	.	4.3427	0.11117	0.0:0.3341:0.0:0.6659	.	7	Q5K130	CLU1O_HUMAN	S	7	.	ENSP00000367748:N7S	N	-	2	0	CLLU1OS	91346034	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.139000	0.10358	0.090000	0.17273	-0.371000	0.07208	AAC		PASS	0.423	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			17	46	17	46	---	---	---	---
FGD6	55785	broad.mit.edu	37	12	95535241	95535241	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:95535241C>G	ENST00000343958.4	-	6	2983	c.2760G>C	c.(2758-2760)caG>caC	p.Q920H	FGD6_ENST00000549499.1_Missense_Mutation_p.Q920H|FGD6_ENST00000546711.1_Missense_Mutation_p.Q920H	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	920	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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.Q920H(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGTATAGGATCTGATTTAGAA	0.458																																						uc001tdp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2758-2760)CAG>CAC		FYVE, RhoGEF and PH domain containing 6							131.0	121.0	125.0					12																	95535241		2203	4300	6503	SO:0001583	missense	55785				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.chr12:95535241C>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2760G>C	12.37:g.95535241C>G	ENSP00000344446:p.Gln920His					FGD6_uc009zsx.2_Missense_Mutation_p.Q53H	p.Q920H	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			6	2984	-			920			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2760G>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134005	0.77662	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.63580	-0.05;-0.05;-0.05	5.79	2.99	0.34606	Dbl homology (DH) domain (5);	0.000000	0.46442	D	0.000291	T	0.74703	0.3751	M	0.67700	2.07	0.52099	D	0.999942	D	0.89917	1.0	D	0.91635	0.999	T	0.75706	-0.3224	10	0.66056	D	0.02	-18.4599	11.3247	0.49442	0.0:0.8014:0.0:0.1986	.	920	Q6ZV73	FGD6_HUMAN	H	920	ENSP00000344446:Q920H;ENSP00000450342:Q920H;ENSP00000449005:Q920H	ENSP00000344446:Q920H	Q	-	3	2	FGD6	94059372	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.480000	0.45206	0.800000	0.34041	0.655000	0.94253	CAG		PASS	0.458	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		12	26	12	26	---	---	---	---
TDG	6996	broad.mit.edu	37	12	104376576	104376576	+	Splice_Site	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:104376576G>A	ENST00000392872.3	+	5	712		c.e5-1		TDG_ENST00000266775.9_Splice_Site|TDG_ENST00000544861.1_Splice_Site|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Splice_Site	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.?(3)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCATTTTACAGGGAAGTGTTT	0.443								Base excision repair (BER), DNA glycosylases																														uc001tkg.2																			3	Unknown(3)	p.?(1)	lung(3)	ovary(3)|lung(3)	6						c.e5-1	BER_DNA_glycosylases	thymine-DNA glycosylase							80.0	79.0	79.0					12																	104376576		2203	4300	6503	SO:0001630	splice_region_variant	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104376576G>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.479-1G>A	12.37:g.104376576G>A						TDG_uc009zuk.2_Splice_Site_p.W156_splice|TDG_uc010swi.1_Splice_Site_p.W17_splice|TDG_uc010swj.1_Splice_Site	p.W160_splice	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	5	702	+								Q8IUZ6|Q8IZM3	Splice_Site	SNP	ENST00000392872.3	37	c.479_splice	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055906	0.76074	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000544861	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0737	0.93150	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDG	102900706	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.761000	0.98940	2.494000	0.84150	0.563000	0.77884	.		PASS	0.443	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		Intron	21	68	21	68	---	---	---	---
NUAK1	9891	broad.mit.edu	37	12	106460732	106460732	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:106460732C>A	ENST00000261402.2	-	7	3213	c.1834G>T	c.(1834-1836)Gac>Tac	p.D612Y		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	612					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.D612Y(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCCTCAAAGTCCTGGATCTGG	0.607																																						uc001tlj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1834-1836)GAC>TAC		AMPK-related protein kinase 5							39.0	46.0	44.0					12																	106460732		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460732C>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1834G>T	12.37:g.106460732C>A	ENSP00000261402:p.Asp612Tyr						p.D612Y	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	3214	-			612					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1834G>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299026	0.81025	.	.	ENSG00000074590	ENST00000261402	T	0.74632	-0.86	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000006	T	0.80639	0.4661	L	0.51422	1.61	0.58432	D	0.999997	D	0.56968	0.978	P	0.54664	0.758	T	0.79974	-0.1577	10	0.51188	T	0.08	.	20.1008	0.97874	0.0:1.0:0.0:0.0	.	612	O60285	NUAK1_HUMAN	Y	612	ENSP00000261402:D612Y	ENSP00000261402:D612Y	D	-	1	0	NUAK1	104984862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.474000	0.53129	2.756000	0.94617	0.563000	0.77884	GAC		PASS	0.607	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		5	37	5	37	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110655915	110655915	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:110655915T>C	ENST00000242591.5	+	19	2421	c.1915T>C	c.(1915-1917)Tgg>Cgg	p.W639R	IFT81_ENST00000552912.1_Missense_Mutation_p.W639R	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	639					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.W639R(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCAAAAATGTGGCGTGATTT	0.343																																						uc001tqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1915-1917)TGG>CGG		intraflagellar transport 81-like isoform 1							121.0	111.0	114.0					12																	110655915		1848	4107	5955	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110655915T>C	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1915T>C	12.37:g.110655915T>C	ENSP00000242591:p.Trp639Arg					IFT81_uc001tqh.2_Missense_Mutation_p.W639R|IFT81_uc001tqj.2_RNA	p.W639R	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			19	2045	+			639					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1915T>C	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.115371	0.77323	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81406	-0.0947	9	0.49607	T	0.09	-5.2688	15.44	0.75176	0.0:0.0:0.0:1.0	.	639	Q8WYA0	IFT81_HUMAN	R	639;639;70	.	ENSP00000242591:W639R	W	+	1	0	IFT81	109140298	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.563000	0.82314	2.105000	0.64084	0.472000	0.43445	TGG		PASS	0.343	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		16	35	16	35	---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122622070	122622070	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr12:122622070C>T	ENST00000319080.7	+	12	2219	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	MLXIP_ENST00000538698.1_Missense_Mutation_p.P303L					MLX interacting protein									p.P696L(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)		GAGCAGAGCCCCAGTCCTCAA	0.592																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2086-2088)CCC>CTC		MLX interacting protein							84.0	89.0	87.0					12																	122622070		1960	4142	6102	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122622070C>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.2087C>T	12.37:g.122622070C>T	ENSP00000312834:p.Pro696Leu					MLXIP_uc001ubt.2_Missense_Mutation_p.P303L	p.P696L	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)	12	2087	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	696						Missense_Mutation	SNP	ENST00000319080.7	37	c.2087C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.216007|4.216007	0.79352|0.79352	.|.	.|.	ENSG00000175727|ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000366272|ENST00000542417	T;T;T|T	0.50001|0.46819	2.43;1.72;0.76|0.86	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.49201|0.49201	0.1543|0.1543	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.28106|0.28106	-1.0054|-1.0054	9|7	0.28530|0.14252	T|T	0.3|0.57	-25.8521|-25.8521	17.2176|17.2176	0.86948|0.86948	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	696|.	Q9HAP2|.	MLXIP_HUMAN|.	L|S	696;303;303;167|32	ENSP00000312834:P696L;ENSP00000440769:P303L;ENSP00000445891:P167L|ENSP00000444507:P32S	ENSP00000312834:P696L|ENSP00000444507:P32S	P|P	+|+	2|1	0|0	MLXIP|MLXIP	121188023|121188023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	4.448000|4.448000	0.60027|0.60027	2.504000|2.504000	0.84457|0.84457	0.563000|0.563000	0.77884|0.77884	CCC|CCA		PASS	0.592	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		17	34	17	34	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113459361	113459361	+	Splice_Site	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr13:113459361G>T	ENST00000487903.1	+	3	340		c.e3+1		ATP11A_ENST00000375630.2_Splice_Site|ATP11A_ENST00000375645.3_Splice_Site|ATP11A_ENST00000283558.8_Splice_Site			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						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.?(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)				TCTGGTGCAGGTAAGGCCGGT	0.348																																						uc001vsi.3																			2	Unknown(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.e3+1		ATPase, class VI, type 11A isoform a							127.0	119.0	121.0					13																	113459361		2203	4299	6502	SO:0001630	splice_region_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.chr13:113459361G>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.252+1G>T	13.37:g.113459361G>T						ATP11A_uc001vsj.3_Splice_Site_p.Q84_splice|ATP11A_uc001vsm.1_Splice_Site	p.Q84_splice	NM_015205	NP_056020	P98196	AT11A_HUMAN			3	340	+	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)						Q5VXT2	Splice_Site	SNP	ENST00000487903.1	37	c.252_splice	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949985	0.73787	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000418678	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6306	0.85032	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP11A	112507362	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.327000	0.90012	2.211000	0.71520	0.650000	0.86243	.		PASS	0.348	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	Intron	12	17	12	17	---	---	---	---
PRMT5	10419	broad.mit.edu	37	14	23390249	23390249	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:23390249C>A	ENST00000324366.8	-	17	2001	c.1778G>T	c.(1777-1779)cGt>cTt	p.R593L	PRMT5_ENST00000216350.8_Missense_Mutation_p.R532L|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.R487L|RBM23_ENST00000555209.1_5'Flank|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|RBM23_ENST00000346528.5_5'Flank|PRMT5_ENST00000397440.4_Missense_Mutation_p.R422L|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000359890.3_5'Flank|RBM23_ENST00000399922.2_5'Flank|PRMT5_ENST00000397441.2_Missense_Mutation_p.R576L|PRMT5-AS1_ENST00000595662.1_RNA|RBM23_ENST00000542016.2_5'Flank|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.R549L	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	593	Beta barrel. {ECO:0000269|PubMed:23071334}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.R593L(1)|p.R576L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTGGCCTTCACGTACCGTTAT	0.458																																						uc001whm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1777-1779)CGT>CTT		protein arginine methyltransferase 5 isoform a							137.0	116.0	123.0					14																	23390249		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23390249C>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1778G>T	14.37:g.23390249C>A	ENSP00000319169:p.Arg593Leu					RBM23_uc001whh.2_5'Flank|RBM23_uc001whg.2_5'Flank|RBM23_uc001whi.2_5'Flank|RBM23_uc010tne.1_5'Flank|RBM23_uc001whj.2_5'Flank|RBM23_uc001whk.1_5'Flank|PRMT5_uc001whl.1_Missense_Mutation_p.R576L|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.R487L|PRMT5_uc010tng.1_Missense_Mutation_p.R532L|PRMT5_uc010tnh.1_Missense_Mutation_p.R549L|PRMT5_uc001whn.1_Missense_Mutation_p.R422L	p.R593L	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	17	1869	-	all_cancers(95;2.76e-05)		593					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.1778G>T	CCDS9579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.98|11.98	1.801574|1.801574	0.31869|0.31869	.|.	.|.	ENSG00000100462|ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897|ENST00000557443	T;T;T;T;T;T|.	0.21543|.	2.0;2.0;2.0;2.0;2.0;2.0|.	5.64|5.64	2.42|2.42	0.29668|0.29668	.|.	0.361724|.	0.34338|.	N|.	0.004057|.	T|T	0.33876|0.33876	0.0878|0.0878	L|L	0.35854|0.35854	1.095|1.095	0.19775|0.19775	N|N	0.999957|0.999957	B;B;B;B;B|.	0.33964|.	0.09;0.202;0.434;0.086;0.322|.	B;B;B;B;B|.	0.37780|.	0.168;0.258;0.174;0.089;0.258|.	T|T	0.20405|0.20405	-1.0276|-1.0276	10|5	0.42905|.	T|.	0.14|.	-2.8958|-2.8958	7.0636|7.0636	0.25139|0.25139	0.0:0.5945:0.0:0.4055|0.0:0.5945:0.0:0.4055	.|.	549;532;422;593;576|.	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91|.	.;.;.;ANM5_HUMAN;.|.	L|L	593;576;422;532;487;549|28	ENSP00000319169:R593L;ENSP00000380583:R576L;ENSP00000380582:R422L;ENSP00000216350:R532L;ENSP00000444915:R487L;ENSP00000452555:R549L|.	ENSP00000216350:R532L|.	R|V	-|-	2|1	0|0	PRMT5|PRMT5	22460089|22460089	0.994000|0.994000	0.37717|0.37717	0.350000|0.350000	0.25708|0.25708	0.926000|0.926000	0.56050|0.56050	1.448000|1.448000	0.35112|0.35112	0.739000|0.739000	0.32628|0.32628	0.462000|0.462000	0.41574|0.41574	CGT|GTG		PASS	0.458	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			4	19	4	19	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23518860	23518860	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:23518860T>C	ENST00000267383.5	-	10	1779	c.1687A>G	c.(1687-1689)Aac>Gac	p.N563D	CDH24_ENST00000487137.2_Missense_Mutation_p.N525D|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.N525D|CDH24_ENST00000397359.3_Missense_Mutation_p.N563D			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	563	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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.N525D(1)|p.N563D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ACAGTAAAGTTGGCATCAGGG	0.577																																						uc001wil.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1687-1689)AAC>GAC		cadherin-like 24 isoform 1							85.0	74.0	78.0					14																	23518860		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23518860T>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1687A>G	14.37:g.23518860T>C	ENSP00000267383:p.Asn563Asp					CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.N525D	p.N563D	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	11	1947	-	all_cancers(95;3.3e-05)		563			Cadherin 5.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.1687A>G	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123561	0.77436	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.7	4.7	0.59300	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.88310	2.945	0.53005	D	0.999964	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.993	T	0.60026	-0.7343	10	0.87932	D	0	.	12.153	0.54059	0.0:0.0:0.0:1.0	.	525;563	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	D	563;525;525;563	ENSP00000380517:N563D;ENSP00000434821:N525D;ENSP00000452493:N525D;ENSP00000267383:N563D	ENSP00000267383:N563D	N	-	1	0	CDH24	22588700	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.779000	0.47734	1.980000	0.57719	0.454000	0.30748	AAC		PASS	0.577	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		9	21	9	21	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47351272	47351272	+	Silent	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:47351272T>C	ENST00000399232.2	-	11	2548	c.2184A>G	c.(2182-2184)tcA>tcG	p.S728S	MDGA2_ENST00000426342.1_Silent_p.S499S|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Silent_p.S797S|MDGA2_ENST00000357362.3_Silent_p.S499S	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	728	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S499S(2)|p.S797S(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						CACGAATTGTTGAATCTCCTT	0.313																																						uc001wwj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2182-2184)TCA>TCG		MAM domain containing 1 isoform 1							49.0	45.0	46.0					14																	47351272		1820	4081	5901	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47351272T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2184A>G	14.37:g.47351272T>C						MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Silent_p.S499S|MDGA2_uc010ani.2_Silent_p.S288S	p.S728S	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			11	2380	-			728					F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.2184A>G																																																																																					PASS	0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		6	16	6	16	---	---	---	---
NAA30	122830	broad.mit.edu	37	14	57857808	57857808	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:57857808G>T	ENST00000556492.1	+	2	287	c.133G>T	c.(133-135)Gac>Tac	p.D45Y	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	45					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.D45Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CGAGGAGGACGACGAAGAGCA	0.776																																						uc001xcx.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)GAC>TAC		N-acetyltransferase 12							7.0	11.0	9.0					14																	57857808		2068	4017	6085	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57857808G>T	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.133G>T	14.37:g.57857808G>T	ENSP00000452521:p.Asp45Tyr					NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	p.D45Y	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN			2	287	+			45					Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.133G>T	CCDS32088.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352128	0.82132	.	.	ENSG00000139977	ENST00000556492	T	0.68903	-0.36	4.51	4.51	0.55191	.	0.363940	0.24537	N	0.037680	T	0.67776	0.2929	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.73126	-0.4081	10	0.62326	D	0.03	-3.1549	15.5523	0.76164	0.0:0.0:1.0:0.0	.	45	Q147X3	NAA30_HUMAN	Y	45	ENSP00000452521:D45Y	ENSP00000298406:D45Y	D	+	1	0	NAA30	56927561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.637000	0.83313	2.496000	0.84212	0.655000	0.94253	GAC		PASS	0.776	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		5	9	5	9	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514257	75514257	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:75514257C>G	ENST00000556740.1	-	1	2137	c.2102G>C	c.(2101-2103)aGc>aCc	p.S701T	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.S701T|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.S701T|MLH3_ENST00000556257.1_Missense_Mutation_p.S701T|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	701					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.S701T(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGATTTTTTGCTACCTTCCTG	0.348								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2101-2103)AGC>ACC	MMR	mutL homolog 3 isoform 1							89.0	90.0	90.0					14																	75514257		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514257C>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2102G>C	14.37:g.75514257C>G	ENSP00000452316:p.Ser701Thr					MLH3_uc001xre.1_Missense_Mutation_p.S701T|MLH3_uc010tuy.1_RNA	p.S701T	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2318	-			701					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2102G>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	0.135	-1.108859	0.01813	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	6.07	1.96	0.26148	.	0.809703	0.12253	N	0.485491	T	0.23688	0.0573	L	0.60455	1.87	0.09310	N	0.999996	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.30416	-0.9979	10	0.20519	T	0.43	0.6274	2.1586	0.03819	0.1507:0.3952:0.2922:0.1619	.	701;701	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	T	701	ENSP00000348020:S701T;ENSP00000238662:S701T;ENSP00000451540:S701T;ENSP00000452316:S701T	ENSP00000238662:S701T	S	-	2	0	MLH3	74584010	0.000000	0.05858	0.004000	0.12327	0.057000	0.15508	0.130000	0.15850	0.422000	0.26005	0.655000	0.94253	AGC		PASS	0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		23	52	23	52	---	---	---	---
COX8C	341947	broad.mit.edu	37	14	93814406	93814406	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:93814406G>A	ENST00000342144.2	+	2	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	53						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.T53T(1)		large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGTTTTTTACGACCTTCTTAA	0.453																																					GBM(134;630 1800 8342 13106 15419)	uc001ybt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)ACG>ACA		cytochrome c oxidase subunit VIIIc							190.0	137.0	155.0					14																	93814406		2203	4300	6503	SO:0001819	synonymous_variant	341947					integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr14:93814406G>A	AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581		"""Mitochondrial respiratory chain complex / Complex IV"""	24382	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit VIII isoform 3"""		"""cytochrome c oxidase subunit 8C"""			12909344	Standard	NM_182971		Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.159G>A	14.37:g.93814406G>A						KIAA1409_uc001ybs.1_Intron	p.T53T	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)	2	237	+		all_cancers(154;0.083)	53			Helical; (By similarity).		Q495K7	Silent	SNP	ENST00000342144.2	37	c.159G>A	CCDS9910.1																																																																																				PASS	0.453	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412769.1	NM_182971		8	39	8	39	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95030027	95030027	+	Missense_Mutation	SNP	A	A	T	rs200122285		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:95030027A>T	ENST00000557004.1	+	2	629	c.208A>T	c.(208-210)Acc>Tcc	p.T70S	SERPINA4_ENST00000555095.1_Missense_Mutation_p.T70S|SERPINA4_ENST00000298841.5_Missense_Mutation_p.T70S|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	70					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T70S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CGCTTCGGAGACCCCGGGGAA	0.602																																						uc001ydk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(208-210)ACC>TCC		serine (or cysteine) proteinase inhibitor, clade							70.0	66.0	67.0					14																	95030027		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030027A>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.208A>T	14.37:g.95030027A>T	ENSP00000450838:p.Thr70Ser					SERPINA4_uc010avd.2_Missense_Mutation_p.T107S|SERPINA4_uc001ydl.2_Missense_Mutation_p.T70S	p.T70S	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	274	+			70					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.208A>T	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	0.180	-1.062964	0.01950	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	T;T;T	0.81415	-1.49;-1.49;-1.49	4.38	-8.76	0.00830	Serpin domain (3);	2.553860	0.01708	N	0.027552	T	0.48003	0.1476	N	0.01874	-0.695	0.09310	N	1	B;B	0.16166	0.016;0.008	B;B	0.28305	0.088;0.034	T	0.55522	-0.8128	10	0.02654	T	1	.	2.5822	0.04821	0.1531:0.2771:0.3626:0.2072	.	70;70	B2R815;P29622	.;KAIN_HUMAN	S	70	ENSP00000450838:T70S;ENSP00000451172:T70S;ENSP00000298841:T70S	ENSP00000298841:T70S	T	+	1	0	SERPINA4	94099780	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.106000	0.03319	-2.696000	0.00401	-0.371000	0.07208	ACC		PASS	0.602	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		17	36	17	36	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102483190	102483190	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:102483190G>A	ENST00000360184.4	+	38	7866	c.7702G>A	c.(7702-7704)Gtc>Atc	p.V2568I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2568	AAA 3. {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.V2568I(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						CCCTGATGTCGTCGTGCCAAC	0.607																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(7702-7704)GTC>ATC		cytoplasmic dynein 1 heavy chain 1							50.0	44.0	46.0					14																	102483190		2203	4300	6503	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.chr14:102483190G>A	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.7702G>A	14.37:g.102483190G>A	ENSP00000348965:p.Val2568Ile					DYNC1H1_uc001ykt.1_Missense_Mutation_p.V59I	p.V2568I	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			38	7866	+			2568			AAA 3 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7702G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840687	0.91197	.	.	ENSG00000197102	ENST00000360184	T	0.35605	1.3	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.31371	0.925	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.12268	-1.0554	10	0.13853	T	0.58	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	2568	Q14204	DYHC1_HUMAN	I	2568	ENSP00000348965:V2568I	ENSP00000348965:V2568I	V	+	1	0	DYNC1H1	101552943	1.000000	0.71417	0.991000	0.47740	0.645000	0.38454	9.368000	0.97152	2.768000	0.95171	0.561000	0.74099	GTC		PASS	0.607	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	14	7	14	---	---	---	---
IGHV3-20	28445	broad.mit.edu	37	14	106667768	106667768	+	RNA	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:106667768C>A	ENST00000390606.2	-	0	225				AB019440.50_ENST00000605005.1_lincRNA					immunoglobulin heavy variable 3-20																		TTGGCGGACCCAGCTCATGCC	0.577																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							114.0	107.0	109.0					14																	106667768		1873	4115	5988			8755							g.chr14:106667768C>A	M99657		14q32.33	2012-02-08			ENSG00000211946	ENSG00000211946		"""Immunoglobulins / IGH locus"""	5585	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152285		14.37:g.106667768C>A														877		-									RNA	SNP	ENST00000390606.2	37	c.22097G>T																																																																																					PASS	0.577	IGHV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325673.1	NG_001019		23	81	23	81	---	---	---	---
IGHV3-66	28412	broad.mit.edu	37	14	107131102	107131102	+	RNA	SNP	G	G	T	rs367806927		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr14:107131102G>T	ENST00000390632.2	-	0	357									immunoglobulin heavy variable 3-66									p.S93S(1)									GCGTGTTCTTGGAATTGTCTC	0.527																																						uc010tyt.1																			1	Substitution - coding silent(1)		lung(1)		0								Parts of antibodies, mostly variable regions.							106.0	129.0	121.0					14																	107131102		2131	4256	6387			8755							g.chr14:107131102G>T	X92218		14q32.33	2012-02-08			ENSG00000211972	ENSG00000211972		"""Immunoglobulins / IGH locus"""	5619	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151880		14.37:g.107131102G>T														63		-									RNA	SNP	ENST00000390632.2	37	c.3408C>A																																																																																					PASS	0.527	IGHV3-66-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324225.1	NG_001019		28	121	28	121	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23812324	23812324	+	Silent	SNP	T	T	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:23812324T>G	ENST00000314520.3	+	1	1871	c.1395T>G	c.(1393-1395)ctT>ctG	p.L465L	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	465					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L465L(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)		AGAAGGAGCTTGTCGTGCTTC	0.507																																						uc001ywh.3																			1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(1393-1395)CTT>CTG		makorin ring finger protein 3							144.0	130.0	135.0					15																	23812324		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812324T>G	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.1395T>G	15.37:g.23812324T>G						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	p.L465L	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	1871	+		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)	465						Silent	SNP	ENST00000314520.3	37	c.1395T>G	CCDS10013.1																																																																																				PASS	0.507	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		22	52	22	52	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29393827	29393827	+	Missense_Mutation	SNP	G	G	A	rs142481200		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:29393827G>A	ENST00000558402.1	+	11	1963	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	APBA2_ENST00000558259.1_Missense_Mutation_p.R455H|APBA2_ENST00000561069.1_Missense_Mutation_p.R455H|APBA2_ENST00000558330.1_Missense_Mutation_p.R443H|APBA2_ENST00000411764.1_Missense_Mutation_p.R443H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	455	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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.R455H(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)		CACGCCTTGCGTACCATCTCC	0.587																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1363-1365)CGT>CAT		amyloid beta A4 precursor protein-binding,		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	103.0	72.0	82.0		1328,1364	4.3	1.0	15	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	443/738,455/750	29393827	1,13005	2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393827G>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.1364G>A	15.37:g.29393827G>A	ENSP00000453293:p.Arg455His					APBA2_uc010azj.2_Missense_Mutation_p.R443H|APBA2_uc010uat.1_Missense_Mutation_p.R443H|APBA2_uc001zcl.2_Missense_Mutation_p.R443H|APBA2_uc001zcm.1_Missense_Mutation_p.R147H	p.R455H	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)	9	1571	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	455			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1364G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000935	0.93227	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.21734	1.99	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.062060	0.64402	D	0.000014	T	0.37919	0.1021	L	0.41573	1.285	0.80722	D	1	D;D;D;P	0.89917	0.994;1.0;1.0;0.9	D;D;D;B	0.97110	0.913;0.996;1.0;0.362	T	0.16305	-1.0407	10	0.56958	D	0.05	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	443;147;443;455	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	H	443;455;147	ENSP00000409312:R443H	ENSP00000219865:R455H	R	+	2	0	APBA2	27181119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	CGT		PASS	0.587	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		3	9	3	9	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30092866	30092866	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:30092866T>C	ENST00000346128.6	-	2	541	c.67A>G	c.(67-69)Aca>Gca	p.T23A	TJP1_ENST00000356107.6_Missense_Mutation_p.T23A|TJP1_ENST00000400011.2_Missense_Mutation_p.T27A|TJP1_ENST00000545208.2_Missense_Mutation_p.T23A|TJP1_ENST00000495972.2_Missense_Mutation_p.T23A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	23	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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.T23A(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)		AGCGTCACTGTATGTTGTTCC	0.373																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(67-69)ACA>GCA		tight junction protein 1 isoform a							199.0	180.0	186.0					15																	30092866		1925	4137	6062	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30092866T>C		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.67A>G	15.37:g.30092866T>C	ENSP00000281537:p.Thr23Ala					TJP1_uc010azl.2_Missense_Mutation_p.T11A|TJP1_uc001zcq.2_Missense_Mutation_p.T27A|TJP1_uc001zcs.2_Missense_Mutation_p.T23A	p.T23A	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)	2	542	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	23			PDZ 1.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.67A>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.440002	0.63067	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.76	5.76	0.90799	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	M	0.83012	2.62	0.80722	D	1	B;B;B;D	0.67145	0.244;0.187;0.224;0.996	B;B;B;D	0.76071	0.249;0.223;0.332;0.987	T	0.77262	-0.2653	9	.	.	.	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	16;23;23;27	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	23;27;23;23;23	ENSP00000281537:T23A;ENSP00000382890:T27A;ENSP00000441202:T23A;ENSP00000348416:T23A	.	T	-	1	0	TJP1	27880158	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.636000	0.74299	2.324000	0.78689	0.533000	0.62120	ACA		PASS	0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		12	41	12	41	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33955095	33955095	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:33955095G>T	ENST00000389232.4	+	35	5434	c.5364G>T	c.(5362-5364)gaG>gaT	p.E1788D	RYR3_ENST00000415757.3_Missense_Mutation_p.E1788D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1788	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.E1788D(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)		CCGGCAAGGAGGCTCCTGTCA	0.567																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5362-5364)GAG>GAT		ryanodine receptor 3							181.0	192.0	188.0					15																	33955095		2045	4202	6247	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955095G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5364G>T	15.37:g.33955095G>T	ENSP00000373884:p.Glu1788Asp					RYR3_uc010bar.2_Missense_Mutation_p.E1788D	p.E1788D	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)	35	5434	+		all_lung(180;7.18e-09)	1788			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5364G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254207	0.01457	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73047	-0.71;-0.71	5.11	0.825	0.18824	.	0.277361	0.33327	N	0.005039	T	0.52964	0.1767	L	0.47716	1.5	0.33800	D	0.626504	B;B	0.20887	0.018;0.049	B;B	0.22386	0.008;0.039	T	0.46233	-0.9206	10	0.07175	T	0.84	.	5.4373	0.16488	0.3842:0.1405:0.4752:0.0	.	1788;1788	Q15413-2;Q15413	.;RYR3_HUMAN	D	1788	ENSP00000373884:E1788D;ENSP00000399610:E1788D	ENSP00000354735:E1788D	E	+	3	2	RYR3	31742387	1.000000	0.71417	0.976000	0.42696	0.318000	0.28184	3.873000	0.56093	0.402000	0.25451	-0.136000	0.14681	GAG		PASS	0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			32	109	32	109	---	---	---	---
ACTC1	70	broad.mit.edu	37	15	35084669	35084669	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:35084669C>A	ENST00000290378.4	-	4	1211	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	186					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.D186Y(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCAGTGAGGTCCCGACCAGCC	0.542																																						uc001ziu.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(556-558)GAC>TAC		cardiac muscle alpha actin 1 proprotein							146.0	126.0	133.0					15																	35084669		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35084669C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.556G>T	15.37:g.35084669C>A	ENSP00000290378:p.Asp186Tyr					uc001zit.1_Intron	p.D186Y	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	4	799	-		all_lung(180;2.3e-08)	186					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.556G>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691529	0.68271	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97906	-4.6	4.99	4.99	0.66335	.	0.000000	0.53938	U	0.000055	D	0.99275	0.9747	H	0.98155	4.16	0.80722	D	1	D	0.60160	0.987	D	0.70716	0.97	D	0.98640	1.0675	10	0.87932	D	0	.	18.8258	0.92117	0.0:1.0:0.0:0.0	.	186	P68032	ACTC_HUMAN	Y	186;151	ENSP00000290378:D186Y	ENSP00000290378:D186Y	D	-	1	0	ACTC1	32871961	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.883000	0.69721	2.755000	0.94549	0.591000	0.81541	GAC		PASS	0.542	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		12	23	12	23	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40322614	40322614	+	Missense_Mutation	SNP	C	C	T	rs200484118		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:40322614C>T	ENST00000263791.5	+	35	4659	c.4616C>T	c.(4615-4617)cCg>cTg	p.P1539L	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.P1511L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1539					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.P1539L(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)		GTGCTAGCCCCGGAGAAGCTG	0.468											OREG0023054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		17720	0.0		0.001	False		,,,				2504	0.0					uc001zkm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(4615-4617)CCG>CTG		eukaryotic translation initiation factor 2 alpha		C	LEU/PRO	0,3846		0,0,1923	78.0	75.0	76.0		4616	5.9	1.0	15		76	2,8266		0,2,4132	yes	missense	EIF2AK4	NM_001013703.2	98	0,2,6055	TT,TC,CC		0.0242,0.0,0.0165	probably-damaging	1539/1650	40322614	2,12112	1923	4134	6057	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40322614C>T	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.4616C>T	15.37:g.40322614C>T	ENSP00000263791:p.Pro1539Leu		OREG0023054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	892	EIF2AK4_uc010bbj.1_Missense_Mutation_p.P1240L|EIF2AK4_uc001zkn.1_Missense_Mutation_p.P639L|EIF2AK4_uc001zko.1_Missense_Mutation_p.P420L|EIF2AK4_uc010bbk.1_RNA	p.P1539L	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	35	4666	+		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)	1539					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.4616C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590463	0.86851	0.0	2.42E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.42513	0.97;0.97	5.91	5.91	0.95273	Serine/threonine-protein kinase GCN2, anticodon binding domain (1);	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.959;0.976	T	0.40403	-0.9565	10	0.28530	T	0.3	-17.0655	18.0716	0.89408	0.0:1.0:0.0:0.0	.	1511;1539	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	L	1539;1511	ENSP00000263791:P1539L;ENSP00000372174:P1511L	ENSP00000263791:P1539L	P	+	2	0	EIF2AK4	38109906	0.993000	0.37304	0.984000	0.44739	0.986000	0.74619	5.647000	0.67923	2.793000	0.96121	0.655000	0.94253	CCG		PASS	0.468	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			6	17	6	17	---	---	---	---
INO80	54617	broad.mit.edu	37	15	41308393	41308393	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:41308393C>T	ENST00000361937.3	-	27	3719	c.3295G>A	c.(3295-3297)Gac>Aac	p.D1099N	RP11-540O11.4_ENST00000558967.1_RNA|RP11-540O11.7_ENST00000558101.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.D1099N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1099	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.D1099N(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTCCACTGTCAGTGATGAGG	0.493																																						uc001zni.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(3295-3297)GAC>AAC		INO80 complex homolog 1							92.0	75.0	81.0					15																	41308393		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41308393C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3295G>A	15.37:g.41308393C>T	ENSP00000355205:p.Asp1099Asn					INO80_uc010ucu.1_Intron	p.D1099N	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			27	3508	-			1099			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3295G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851498	0.97023	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.83419	-1.72;-1.72	6.05	6.05	0.98169	.	0.050266	0.85682	D	0.000000	T	0.76666	0.4019	N	0.17594	0.5	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.79269	-0.1873	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	1099	Q9ULG1	INO80_HUMAN	N	1099	ENSP00000355205:D1099N;ENSP00000384686:D1099N	ENSP00000355205:D1099N	D	-	1	0	INO80	39095685	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.806000	0.86020	2.878000	0.98634	0.650000	0.86243	GAC		PASS	0.493	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		7	22	7	22	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54624308	54624308	+	Splice_Site	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:54624308G>A	ENST00000260323.11	+	14	4493	c.4493G>A	c.(4492-4494)aGg>aAg	p.R1498K	UNC13C_ENST00000537900.1_Splice_Site_p.R1496K|UNC13C_ENST00000545554.1_Splice_Site_p.R1498K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1498					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.R1498K(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)		TCAAAGTATAGGGTATGTACA	0.313																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4492-4494)AGG>AAG		unc-13 homolog C							84.0	75.0	78.0					15																	54624308		1795	4062	5857	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54624308G>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.4494+1G>A	15.37:g.54624308G>A						UNC13C_uc002acl.2_Missense_Mutation_p.R328K	p.R1498K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	13	4493	+			1498					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4493G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	35	5.479434	0.96307	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83506	-1.71;-1.73;-1.72	5.6	5.6	0.85130	.	0.048247	0.85682	D	0.000000	D	0.91818	0.7411	M	0.83483	2.645	0.80722	D	1	D;D	0.64830	0.993;0.994	D;D	0.70716	0.946;0.97	D	0.92234	0.5795	10	0.72032	D	0.01	.	18.9733	0.92724	0.0:0.0:1.0:0.0	.	1498;1498	F5H090;Q8NB66	.;UN13C_HUMAN	K	1498;1498;1496	ENSP00000260323:R1498K;ENSP00000438156:R1498K;ENSP00000442569:R1496K	ENSP00000260323:R1498K	R	+	2	0	UNC13C	52411600	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.813000	0.99286	2.806000	0.96561	0.655000	0.94253	AGG		PASS	0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Missense_Mutation	2	4	2	4	---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68434669	68434669	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:68434669A>C	ENST00000249636.6	+	4	744	c.596A>C	c.(595-597)cAg>cCg	p.Q199P	PIAS1_ENST00000545237.1_Missense_Mutation_p.Q201P	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	199	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q199P(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GTACAGGTCCAGTTAAGGTAC	0.358																																						uc002aqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(595-597)CAG>CCG		protein inhibitor of activated STAT, 1							51.0	48.0	49.0					15																	68434669		1815	4080	5895	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68434669A>C	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.596A>C	15.37:g.68434669A>C	ENSP00000249636:p.Gln199Pro					PIAS1_uc010ujx.1_Missense_Mutation_p.Q199P	p.Q199P	NM_016166	NP_057250	O75925	PIAS1_HUMAN			4	692	+			199			PINIT.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.596A>C	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246363	0.80024	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.46819	0.86;0.86	5.39	4.22	0.49857	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.968	T	0.76063	-0.3096	10	0.62326	D	0.03	-9.8919	12.5313	0.56117	0.8612:0.1388:0.0:0.0	.	199;199	C5J4B4;O75925	.;PIAS1_HUMAN	P	199;201	ENSP00000249636:Q199P;ENSP00000438574:Q201P	ENSP00000249636:Q199P	Q	+	2	0	PIAS1	66221723	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.781000	0.91805	2.042000	0.60477	0.477000	0.44152	CAG		PASS	0.358	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			5	10	5	10	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72534978	72534978	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:72534978T>C	ENST00000569795.1	-	21	2311	c.1624A>G	c.(1624-1626)Atg>Gtg	p.M542V	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.M542V|PARP6_ENST00000260376.7_Silent_p.G518G			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	542	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.M542V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ATGGTATTCATCCTGTTGTAT	0.483																																						uc002auc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1624-1626)ATG>GTG		poly (ADP-ribose) polymerase family, member 6							179.0	172.0	174.0					15																	72534978		1922	4135	6057	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72534978T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1624A>G	15.37:g.72534978T>C	ENSP00000456348:p.Met542Val					PARP6_uc002aua.2_Missense_Mutation_p.M388V|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.M543V	p.M542V	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			20	2083	-			542			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.1624A>G	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	9.390	1.075141	0.20227	.	.	ENSG00000137817	ENST00000419739;ENST00000287196	.	.	.	5.32	5.32	0.75619	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.26159	0.0638	N	0.01874	-0.695	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.16482	-1.0401	9	0.15066	T	0.55	-15.3611	14.6181	0.68562	0.0:0.0:0.0:1.0	.	543;542;475	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	V	543;542	.	ENSP00000287196:M542V	M	-	1	0	PARP6	70322032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.686000	0.61700	2.228000	0.72767	0.533000	0.62120	ATG		PASS	0.483	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		23	33	23	33	---	---	---	---
NEIL1	79661	broad.mit.edu	37	15	75647319	75647319	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr15:75647319C>T	ENST00000564784.1	+	11	1746	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	NEIL1_ENST00000569035.1_Missense_Mutation_p.R373W|RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000355059.4_Missense_Mutation_p.R373W			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	373					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R373W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CTGCAGACCCCGGAAGGTCAA	0.572								Base excision repair (BER), DNA glycosylases																														uc002bad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)CGG>TGG	BER_DNA_glycosylases	nei endonuclease VIII-like 1							48.0	43.0	45.0					15																	75647319		2197	4294	6491	SO:0001583	missense	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75647319C>T	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.1117C>T	15.37:g.75647319C>T	ENSP00000457352:p.Arg373Trp					NEIL1_uc002bae.2_Missense_Mutation_p.R459W|MIR631_hsa-mir-631|MI0003645_5'Flank	p.R373W	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			10	1623	+			373					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	c.1117C>T	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567021	0.28003	.	.	ENSG00000140398	ENST00000355059	T	0.12569	2.67	4.07	1.18	0.20946	.	1.931060	0.02004	N	0.046558	T	0.13841	0.0335	L	0.43152	1.355	0.09310	N	1	D	0.56968	0.978	B	0.40565	0.333	T	0.28870	-1.0030	10	0.66056	D	0.02	-1.8172	6.2113	0.20631	0.0:0.6796:0.0:0.3204	.	373	Q96FI4	NEIL1_HUMAN	W	373	ENSP00000347170:R373W	ENSP00000347170:R373W	R	+	1	2	NEIL1	73434372	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.034000	0.13776	0.284000	0.22305	-0.291000	0.09656	CGG		PASS	0.572	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		6	10	6	10	---	---	---	---
ACD	65057	broad.mit.edu	37	16	67694091	67694091	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr16:67694091G>A	ENST00000393919.4	-	1	555	c.291C>T	c.(289-291)ccC>ccT	p.P97P	PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_Silent_p.P97P|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	97					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.P97P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGAATCCAGGGCCGTAGGA	0.701																																						uc002etq.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(289-291)CCC>CCT		adrenocortical dysplasia homolog isoform 1							31.0	40.0	37.0					16																	67694091		2191	4296	6487	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694091G>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.291C>T	16.37:g.67694091G>A						ACD_uc002etp.3_Silent_p.P97P|ACD_uc002etr.3_Silent_p.P97P|ACD_uc010vjt.1_Silent_p.P87P|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.P97P	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	628	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	97			PWI.		Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.291C>T	CCDS42181.1																																																																																				PASS	0.701	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		15	38	15	38	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74519807	74519807	+	Silent	SNP	T	T	A	rs76382044	byFrequency	TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr16:74519807T>A	ENST00000422840.2	-	9	1457	c.1458A>T	c.(1456-1458)acA>acT	p.T486T	GLG1_ENST00000205061.5_Silent_p.T486T|GLG1_ENST00000447066.2_Silent_p.T475T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	486					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.T486T(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCTGAATCAGTGTTTGAAGCT	0.393																																						uc002fcy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1456-1458)ACA>ACT		golgi apparatus protein 1 isoform 3							86.0	87.0	87.0					16																	74519807		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74519807T>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1458A>T	16.37:g.74519807T>A						GLG1_uc002fcx.2_Silent_p.T486T|GLG1_uc002fcw.3_Silent_p.T475T|GLG1_uc002fcz.3_Intron	p.T486T	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			9	1508	-			486			Extracellular (Potential).|Cys-rich GLG1 7.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.1458A>T	CCDS45527.1																																																																																				PASS	0.393	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		8	30	8	30	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76556015	76556015	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr16:76556015C>A	ENST00000476707.1	+	16	2764	c.2625C>A	c.(2623-2625)aaC>aaA	p.N875K	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.N799K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.N823K|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.N871K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	872	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.N871K(1)|p.N799K(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						CCCACTTCAACGACAACCAGT	0.502																																						uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2614-2616)AAC>AAA		cell recognition protein CASPR4 isoform 1							167.0	165.0	166.0					16																	76556015		2033	4219	6252	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76556015C>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.2625C>A	16.37:g.76556015C>A	ENSP00000417628:p.Asn875Lys					CNTNAP4_uc002fev.1_Missense_Mutation_p.N736K|CNTNAP4_uc010chb.1_Missense_Mutation_p.N799K|CNTNAP4_uc002fex.1_Missense_Mutation_p.N875K	p.N872K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			19	3001	+			872			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2616C>A		.	.	.	.	.	.	.	.	.	.	C	15.57	2.872099	0.51695	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	4.87	-9.73	0.00512	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.150400	0.30201	N	0.010170	D	0.90861	0.7129	.	.	.	0.34324	D	0.686921	P;D;P	0.61080	0.945;0.989;0.796	D;D;P	0.68765	0.96;0.92;0.784	D	0.90747	0.4654	9	0.87932	D	0	.	27.1303	0.99997	0.0:0.0815:0.0:0.9185	.	799;875;872	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	K	871;823;799;875	ENSP00000306893:N871K;ENSP00000439733:N823K;ENSP00000418741:N799K;ENSP00000417628:N875K	ENSP00000306893:N871K	N	+	3	2	CNTNAP4	75113516	0.042000	0.20092	0.020000	0.16555	0.953000	0.61014	-0.858000	0.04281	-3.923000	0.00091	-0.812000	0.03155	AAC		PASS	0.502	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		27	57	27	57	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77369771	77369771	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr16:77369771C>A	ENST00000282849.5	-	12	2159	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	581					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G581W(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGAGCTCCCCAAACTTTACG	0.597																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1741-1743)GGG>TGG		ADAM metallopeptidase with thrombospondin type 1							116.0	121.0	119.0					16																	77369771		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77369771C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1741G>T	16.37:g.77369771C>A	ENSP00000282849:p.Gly581Trp					ADAMTS18_uc010chc.1_Missense_Mutation_p.G169W|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G277W	p.G581W	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			12	2160	-			581					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1741G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103614	0.94245	.	.	ENSG00000140873	ENST00000282849	T	0.03663	3.85	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.06180	-1.0841	10	0.87932	D	0	.	18.9284	0.92554	0.0:1.0:0.0:0.0	.	581;581	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	W	581	ENSP00000282849:G581W	ENSP00000282849:G581W	G	-	1	0	ADAMTS18	75927272	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	7.696000	0.84270	2.712000	0.92718	0.650000	0.86243	GGG		PASS	0.597	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			25	86	25	86	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88902186	88902186	+	Silent	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr16:88902186C>A	ENST00000268695.5	-	7	793	c.705G>T	c.(703-705)acG>acT	p.T235T	GALNS_ENST00000542788.1_Silent_p.T160T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	235	Catalytic domain.		T -> K (in MPS4A). {ECO:0000269|PubMed:24726177}.		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.T235T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CGGGTGCGTGCGTGGCGTCGA	0.617																																					GBM(129;1929 2344 25209 33204)	uc002fly.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(703-705)ACG>ACT		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						135.0	111.0	119.0					16																	88902186		2198	4300	6498	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88902186C>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.705G>T	16.37:g.88902186C>A						GALNS_uc010cid.2_Silent_p.T241T|GALNS_uc002flz.3_5'UTR	p.T235T	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	7	794	-			235					Q86VK3	Silent	SNP	ENST00000268695.5	37	c.705G>T	CCDS10970.1																																																																																				PASS	0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			9	36	9	36	---	---	---	---
ALOX15	246	broad.mit.edu	37	17	4536516	4536516	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:4536516G>A	ENST00000570836.1	-	11	1439	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	ALOX15_ENST00000293761.3_Missense_Mutation_p.A448V|ALOX15_ENST00000574640.1_Missense_Mutation_p.A409V|ALOX15_ENST00000545513.1_Missense_Mutation_p.A470V			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	448	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A448V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCCCCGGTCGGCCAAGTCATC	0.592																																						uc002fyh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(1342-1344)GCC>GTC		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						38.0	40.0	39.0					17																	4536516		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4536516G>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1343C>T	17.37:g.4536516G>A	ENSP00000458832:p.Ala448Val					ALOX15_uc010vsd.1_Missense_Mutation_p.A409V|ALOX15_uc010vse.1_Missense_Mutation_p.A470V	p.A448V	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	10	1357	-			448			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.1343C>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717833	0.48622	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.75367	-0.93;-0.93	3.79	1.67	0.24075	Lipoxygenase, C-terminal (3);	0.666492	0.14109	N	0.340814	T	0.75170	0.3813	L	0.57536	1.79	0.20196	N	0.999929	D;P;D	0.54964	0.962;0.836;0.969	P;P;P	0.56216	0.539;0.794;0.551	T	0.62148	-0.6915	10	0.40728	T	0.16	-26.3222	4.3841	0.11307	0.1103:0.0:0.4838:0.4059	.	470;409;448	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	V	448;470	ENSP00000293761:A448V;ENSP00000439855:A470V	ENSP00000293761:A448V	A	-	2	0	ALOX15	4483265	0.817000	0.29147	0.928000	0.36995	0.662000	0.39071	1.542000	0.36137	0.244000	0.21351	0.491000	0.48974	GCC		PASS	0.592	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			3	17	3	17	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578188	7578188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:7578188C>A	ENST00000269305.4	-	6	850	c.661G>T	c.(661-663)Gag>Tag	p.E221*	TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E221*	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	221	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(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)	TCAGGCGGCTCATAGGGCACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		48	Substitution - Nonsense(17)|Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(3)|Substitution - Missense(2)	p.0?(7)|p.E221*(5)|p.E221fs*4(3)|p.E221G(2)|p.E221K(2)|p.E221D(2)|p.E221fs*26(2)|p.E221E(2)|p.Y220_P223delYEPP(1)|p.?(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.V218fs*26(1)	upper_aerodigestive_tract(9)|biliary_tract(5)|endometrium(5)|urinary_tract(5)|lung(5)|bone(4)|central_nervous_system(3)|oesophagus(2)|ovary(2)|vulva(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|breast(1)|skin(1)|large_intestine(1)|liver(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						c.(661-663)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							100.0	92.0	94.0					17																	7578188		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578188C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.661G>T	17.37:g.7578188C>A	ENSP00000269305:p.Glu221*	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_Nonsense_Mutation_p.E221*|TP53_uc002gih.2_Nonsense_Mutation_p.E221*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E89*|TP53_uc010cng.1_Nonsense_Mutation_p.E89*|TP53_uc002gii.1_Nonsense_Mutation_p.E89*|TP53_uc010cnh.1_Nonsense_Mutation_p.E221*|TP53_uc010cni.1_Nonsense_Mutation_p.E221*|TP53_uc002gij.2_Nonsense_Mutation_p.E221*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E128*|TP53_uc002gio.2_Nonsense_Mutation_p.E89*|TP53_uc010vug.1_Nonsense_Mutation_p.E182*	p.E221*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	855	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	221		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.661G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353387	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6014	12.2235	0.54447	0.0:0.9162:0.0:0.0838	.	.	.	.	X	221;221;221;221;221;221;210;128;89;128	.	ENSP00000269305:E221X	E	-	1	0	TP53	7518913	1.000000	0.71417	0.299000	0.25016	0.996000	0.88848	6.045000	0.71020	1.364000	0.46038	0.563000	0.77884	GAG		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	9	4	9	---	---	---	---
MAP2K4	6416	broad.mit.edu	37	17	12044544	12044544	+	Silent	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:12044544A>T	ENST00000353533.5	+	11	1230	c.1167A>T	c.(1165-1167)ccA>ccT	p.P389P	MAP2K4_ENST00000415385.3_Silent_p.P400P	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	389					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|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)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)|p.P389P(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATCAAATGCCAGCTACTCCCA	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	uc002gnj.2				Rec	yes		17	17p11.2	6416	D|Mis|N	mitogen-activated protein kinase kinase 4			E			pancreatic|breast|colorectal		13	Whole gene deletion(10)|Unknown(2)|Substitution - coding silent(1)	p.?(2)	ovary(4)|breast(4)|lung(2)|pancreas(2)|biliary_tract(1)	large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58						c.(1165-1167)CCA>CCT		mitogen-activated protein kinase kinase 4							145.0	124.0	131.0					17																	12044544		2203	4299	6502	SO:0001819	synonymous_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12044544A>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1167A>T	17.37:g.12044544A>T						MAP2K4_uc002gnk.2_Silent_p.P400P|MAP2K4_uc010vvi.1_Silent_p.P271P|MAP2K4_uc010vvj.1_Silent_p.P261P	p.P389P	NM_003010	NP_003001	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	11	1236	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	389					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	37	c.1167A>T	CCDS11162.1																																																																																				PASS	0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			12	39	12	39	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18039093	18039093	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:18039093G>C	ENST00000205890.5	+	13	4889	c.4551G>C	c.(4549-4551)caG>caC	p.Q1517H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1517	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1517H(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGCTGCAGATCTCCCCTG	0.567																																						uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(4549-4551)CAG>CAC		myosin XV							53.0	60.0	58.0					17																	18039093		2104	4232	6336	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18039093G>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4551G>C	17.37:g.18039093G>C	ENSP00000205890:p.Gln1517His						p.Q1517H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			12	4889	+	all_neural(463;0.228)		1517			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.4551G>C	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988518	0.53934	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	5.07	5.07	0.68467	Myosin head, motor domain (2);	.	.	.	.	D	0.90400	0.6995	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89593	0.3829	9	0.49607	T	0.09	.	9.5701	0.39422	0.1569:0.0:0.8431:0.0	.	1517	Q9UKN7	MYO15_HUMAN	H	1517	ENSP00000205890:Q1517H	ENSP00000205890:Q1517H	Q	+	3	2	MYO15A	17979818	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.712000	0.61888	2.516000	0.84829	0.655000	0.94253	CAG		PASS	0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	10	5	10	---	---	---	---
ITGB3	3690	broad.mit.edu	37	17	45361811	45361811	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:45361811G>T	ENST00000559488.1	+	4	380	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	ITGB3_ENST00000560629.1_Nonstop_Mutation_p.*110L|ITGB3_ENST00000571680.1_Missense_Mutation_p.D122Y|ITGB3_ENST00000435993.2_Missense_Mutation_p.D75Y	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	122					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.D75Y(1)|p.D122Y(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CCTTCCAGATGATTCGAAGAA	0.418																																						uc002ilj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(1)	6						c.(364-366)GAT>TAT		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						79.0	68.0	72.0					17																	45361811		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45361811G>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.364G>T	17.37:g.45361811G>T	ENSP00000452786:p.Asp122Tyr					ITGB3_uc002ili.1_Missense_Mutation_p.D122Y|ITGB3_uc010wkr.1_RNA	p.D122Y	NM_000212	NP_000203	P05106	ITB3_HUMAN			4	384	+			122			Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.364G>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003195	0.74932	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92805	-3.11	5.76	5.76	0.90799	Integrin beta subunit, N-terminal (2);	0.045183	0.85682	D	0.000000	D	0.95529	0.8547	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	D	0.95626	0.8685	10	0.87932	D	0	.	17.4368	0.87554	0.0:0.0:1.0:0.0	.	122;122	P05106;Q2YFE1	ITB3_HUMAN;.	Y	122;75	ENSP00000407801:D75Y	ENSP00000262017:D122Y	D	+	1	0	C17orf57	42716810	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	9.609000	0.98334	2.716000	0.92895	0.655000	0.94253	GAT		PASS	0.418	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		9	27	9	27	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56348155	56348155	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:56348155G>T	ENST00000225275.3	-	12	2276	c.2100C>A	c.(2098-2100)ccC>ccA	p.P700P	MPO_ENST00000340482.3_Silent_p.P732P	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	700					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.P700P(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)	AGATGATCCGGGGCAATGAGA	0.547																																						uc002ivu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2098-2100)CCC>CCA		myeloperoxidase	Cefdinir(DB00535)						227.0	175.0	193.0					17																	56348155		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.chr17:56348155G>T		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.2100C>A	17.37:g.56348155G>T							p.P700P	NM_000250	NP_000241	P05164	PERM_HUMAN			12	2277	-			700					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.2100C>A	CCDS11604.1																																																																																				PASS	0.547	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			10	26	10	26	---	---	---	---
TRIM47	91107	broad.mit.edu	37	17	73871553	73871553	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:73871553C>T	ENST00000254816.2	-	5	1230	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.D164N	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	402						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D402N(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)			GGCTCAGCATCAGCTGTAGAA	0.577																																						uc002jpw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1204-1206)GAT>AAT		tripartite motif-containing 47							76.0	70.0	72.0					17																	73871553		2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73871553C>T	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.1204G>A	17.37:g.73871553C>T	ENSP00000254816:p.Asp402Asn					TRIM47_uc002jpv.2_Missense_Mutation_p.D164N	p.D402N	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)		5	1231	-			402					Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1204G>A	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	C	7.355	0.623579	0.14193	.	.	ENSG00000132481	ENST00000254816	T	0.40756	1.02	4.86	4.86	0.63082	.	0.364674	0.24109	N	0.041465	T	0.26557	0.0649	N	0.19112	0.55	0.34953	D	0.751413	B	0.23735	0.09	B	0.18871	0.023	T	0.28902	-1.0029	10	0.38643	T	0.18	.	9.6049	0.39628	0.0:0.9021:0.0:0.0979	.	402	Q96LD4	TRI47_HUMAN	N	402	ENSP00000254816:D402N	ENSP00000254816:D402N	D	-	1	0	TRIM47	71383148	0.006000	0.16342	0.872000	0.34217	0.057000	0.15508	1.257000	0.32932	2.423000	0.82170	0.511000	0.50034	GAT		PASS	0.577	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			6	22	6	22	---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79686879	79686879	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr17:79686879G>C	ENST00000350690.5	+	10	810	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	SLC25A10_ENST00000571730.1_Missense_Mutation_p.V397L|SLC25A10_ENST00000545862.1_Missense_Mutation_p.V199L|SLC25A10_ENST00000541223.1_Missense_Mutation_p.V397L|SLC25A10_ENST00000331531.5_Missense_Mutation_p.V251L	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	242					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.V242L(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)	CCACTGCGCCGTGGAGACAGC	0.602																																						uc002kbi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)GTG>CTG		solute carrier family 25 (mitochondrial carrier;	Succinic acid(DB00139)						156.0	180.0	172.0					17																	79686879		2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79686879G>C		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.724G>C	17.37:g.79686879G>C	ENSP00000345580:p.Val242Leu					SLC25A10_uc010wut.1_Missense_Mutation_p.V397L|SLC25A10_uc010dif.2_Missense_Mutation_p.V251L|SLC25A10_uc010wuu.1_Missense_Mutation_p.V196L	p.V242L	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		10	810	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		242			Solcar 3.		Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.724G>C	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312299	0.05422	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	4.36	-8.72	0.00845	Mitochondrial carrier domain (2);	0.647462	0.14300	N	0.328340	T	0.40767	0.1130	N	0.11427	0.14	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.53683	-0.8404	10	0.02654	T	1	-2.2797	1.993	0.03450	0.3866:0.2096:0.2979:0.1059	.	397;251;242	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	L	397;251;242;199	ENSP00000439565:V397L;ENSP00000328403:V251L;ENSP00000345580:V242L;ENSP00000446242:V199L	ENSP00000328403:V251L	V	+	1	0	SLC25A10	77297284	0.000000	0.05858	0.004000	0.12327	0.372000	0.29890	-1.990000	0.01479	-1.305000	0.02327	0.655000	0.94253	GTG		PASS	0.602	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			54	172	54	172	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5419875	5419875	+	Splice_Site	SNP	C	C	T	rs11661706		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr18:5419875C>T	ENST00000341928.2	-	12	1681	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	EPB41L3_ENST00000544123.1_Silent_p.E465E|EPB41L3_ENST00000427684.2_5'Flank|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'Flank|EPB41L3_ENST00000540638.2_Silent_p.E465E|EPB41L3_ENST00000400111.3_Silent_p.E465E|EPB41L3_ENST00000342933.3_Splice_Site_p.E447E	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	447	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E447E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAGTACCAACCTCTGCAGCAG	0.433																																						uc002kmt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1339-1341)GAG>GAA		erythrocyte membrane protein band 4.1-like 3							111.0	94.0	99.0					18																	5419875		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419875C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1340-1G>A	18.37:g.5419875C>T						EPB41L3_uc010wzh.1_Silent_p.E465E|EPB41L3_uc002kmu.1_Silent_p.E465E|EPB41L3_uc010dkq.1_Silent_p.E356E|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Silent_p.E26E	p.E447E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			12	1427	-			447			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.1341G>A	CCDS11838.1																																																																																				PASS	0.433	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Silent	10	56	10	56	---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29125885	29125885	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr18:29125885G>C	ENST00000261590.8	+	15	2745	c.2536G>C	c.(2536-2538)Gat>Cat	p.D846H	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	846					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D846H(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCAAAAAATAGATATAAATAA	0.373																																						uc002kwu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2536-2538)GAT>CAT		desmoglein 2 preproprotein							73.0	73.0	73.0					18																	29125885		1818	4079	5897	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29125885G>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2536G>C	18.37:g.29125885G>C	ENSP00000261590:p.Asp846His					uc002kwv.3_Intron	p.D846H	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2724	+			846			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2536G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149546	0.57151	.	.	ENSG00000046604	ENST00000261590	T	0.61510	0.1	5.46	4.6	0.57074	.	0.539182	0.17902	N	0.158160	T	0.50446	0.1616	L	0.36672	1.1	0.80722	D	1	P	0.49961	0.93	P	0.44772	0.46	T	0.53690	-0.8403	10	0.66056	D	0.02	.	10.5433	0.45045	0.1455:0.0:0.8545:0.0	.	846	Q14126	DSG2_HUMAN	H	846	ENSP00000261590:D846H	ENSP00000261590:D846H	D	+	1	0	DSG2	27379883	0.866000	0.29940	0.993000	0.49108	0.768000	0.43524	0.901000	0.28445	1.550000	0.49438	0.655000	0.94253	GAT		PASS	0.373	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		19	66	19	66	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48604789	48604789	+	Missense_Mutation	SNP	C	C	A	rs377767385|rs369598262		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr18:48604789C>A	ENST00000342988.3	+	12	2149	c.1611C>A	c.(1609-1611)gaC>gaA	p.D537E	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.D441E|SMAD4_ENST00000398417.2_Missense_Mutation_p.D537E	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	537	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|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)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.L536fs*11(1)|p.D537E(1)|p.L536fs*14(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCTCCTAGACGAAGTACTTC	0.483																																						uc010xdp.1																			41	Whole gene deletion(36)|Deletion - Frameshift(2)|Unknown(2)|Substitution - Missense(1)	p.0?(35)|p.D537Y(2)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1)	pancreas(26)|large_intestine(4)|lung(4)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(1609-1611)GAC>GAA		mothers against decapentaplegic homolog 4							79.0	81.0	81.0					18																	48604789		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604789C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1611C>A	18.37:g.48604789C>A	ENSP00000341551:p.Asp537Glu					SMAD4_uc002lfb.3_Missense_Mutation_p.D382E	p.D537E	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2149	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	537			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1611C>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921500	0.52653	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.97870	-4.58;-4.58	6.07	0.758	0.18432	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97992	1.0355	10	0.87932	D	0	.	9.481	0.38900	0.0:0.2757:0.0:0.7243	.	537	Q13485	SMAD4_HUMAN	E	537	ENSP00000341551:D537E;ENSP00000381452:D537E	ENSP00000341551:D537E	D	+	3	2	SMAD4	46858787	1.000000	0.71417	0.988000	0.46212	0.950000	0.60333	0.797000	0.26999	-0.043000	0.13513	-1.105000	0.02106	GAC		PASS	0.483	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		5	24	5	24	---	---	---	---
NARS	4677	broad.mit.edu	37	18	55270082	55270082	+	Missense_Mutation	SNP	T	T	C	rs367852140		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr18:55270082T>C	ENST00000256854.5	-	12	1800	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	NARS_ENST00000423481.2_Missense_Mutation_p.M200V	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	449					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.M449V(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CATCGCTGCATGTAGAAGGAC	0.438																																						uc002lgs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1345-1347)ATG>GTG		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)	T	VAL/MET	0,4406		0,0,2203	112.0	95.0	101.0		1345	6.0	1.0	18		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	NARS	NM_004539.3	21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	449/549	55270082	1,13005	2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55270082T>C	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1345A>G	18.37:g.55270082T>C	ENSP00000256854:p.Met449Val					NARS_uc002lgt.2_Missense_Mutation_p.M448V|NARS_uc010xea.1_Missense_Mutation_p.M200V	p.M449V	NM_004539	NP_004530	O43776	SYNC_HUMAN			12	1573	-		Colorectal(73;0.227)	449					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.1345A>G	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510640	0.85389	0.0	1.16E-4	ENSG00000134440	ENST00000256854;ENST00000423481	D;D	0.85629	-2.01;-2.01	5.99	5.99	0.97316	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.86097	2.795	0.80722	D	1	P;D	0.76494	0.953;0.999	P;D	0.74674	0.536;0.984	D	0.93873	0.7164	10	0.87932	D	0	-10.6531	16.1557	0.81666	0.0:0.0:0.0:1.0	.	200;449	B4DN60;O43776	.;SYNC_HUMAN	V	449;200	ENSP00000256854:M449V;ENSP00000407919:M200V	ENSP00000256854:M449V	M	-	1	0	NARS	53421080	1.000000	0.71417	0.958000	0.39756	0.997000	0.91878	7.608000	0.82898	2.291000	0.77112	0.533000	0.62120	ATG		PASS	0.438	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		13	27	13	27	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56203604	56203604	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr18:56203604A>G	ENST00000361673.3	-	5	4028	c.3815T>C	c.(3814-3816)gTc>gCc	p.V1272A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1272						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V633A(1)|p.V1272A(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						TACAGCCCAGACCTTGTCAGG	0.498																																						uc002lhj.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3814-3816)GTC>GCC		heart alpha-kinase							152.0	136.0	141.0					18																	56203604		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203604A>G	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.3815T>C	18.37:g.56203604A>G	ENSP00000354991:p.Val1272Ala					ALPK2_uc002lhk.1_Missense_Mutation_p.V603A	p.V1272A	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4029	-			1272					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3815T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312299	0.23908	.	.	ENSG00000198796	ENST00000361673	T	0.44083	0.93	5.64	-6.32	0.01995	.	5.017460	0.00166	N	0.000000	T	0.32010	0.0815	L	0.46157	1.445	0.09310	N	1	B;B	0.17038	0.02;0.01	B;B	0.15484	0.013;0.002	T	0.14144	-1.0483	10	0.17832	T	0.49	0.0068	8.1137	0.30930	0.2172:0.3516:0.4312:0.0	.	1267;1272	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	A	1272	ENSP00000354991:V1272A	ENSP00000354991:V1272A	V	-	2	0	ALPK2	54354584	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.392000	0.02523	-0.860000	0.04099	-0.464000	0.05259	GTC		PASS	0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		37	52	37	52	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63477081	63477081	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr18:63477081T>C	ENST00000397968.2	+	3	778	c.352T>C	c.(352-354)Tac>Cac	p.Y118H	CDH7_ENST00000323011.3_Missense_Mutation_p.Y118H|CDH7_ENST00000536984.2_Missense_Mutation_p.Y118H	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	118	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.Y118H(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)				GCAGGCCTACTACACGCTCCG	0.502																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(352-354)TAC>CAC		cadherin 7, type 2 preproprotein							77.0	71.0	73.0					18																	63477081		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.chr18:63477081T>C	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.352T>C	18.37:g.63477081T>C	ENSP00000381058:p.Tyr118His					CDH7_uc002lka.2_Missense_Mutation_p.Y118H|CDH7_uc002lkb.2_Missense_Mutation_p.Y118H	p.Y118H	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			3	677	+		Esophageal squamous(42;0.129)	118			Extracellular (Potential).|Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.352T>C	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557585	0.86231	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.69561	-0.41;-0.41;-0.41	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.066319	0.64402	D	0.000009	D	0.85221	0.5647	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88326	0.2965	10	0.87932	D	0	.	16.2193	0.82247	0.0:0.0:0.0:1.0	.	118;118	F5H5X9;Q9ULB5	.;CADH7_HUMAN	H	118	ENSP00000319166:Y118H;ENSP00000443030:Y118H;ENSP00000381058:Y118H	ENSP00000319166:Y118H	Y	+	1	0	CDH7	61628061	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.624000	0.83124	2.234000	0.73211	0.528000	0.53228	TAC		PASS	0.502	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		17	23	17	23	---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16791277	16791277	+	Silent	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr19:16791277C>T	ENST00000187762.2	+	3	442	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	117						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.I117I(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGAAACTCATCTTCGTGGCCA	0.552																																						uc002nes.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(349-351)ATC>ATT		transmembrane protein 38A							247.0	231.0	236.0					19																	16791277		2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791277C>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.351C>T	19.37:g.16791277C>T							p.I117I	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			3	442	+			117			Cytoplasmic (Potential).		A8K9P9	Silent	SNP	ENST00000187762.2	37	c.351C>T	CCDS12349.1																																																																																				PASS	0.552	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		55	87	55	87	---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17918639	17918639	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr19:17918639G>C	ENST00000318683.6	+	2	170	c.23G>C	c.(22-24)cGg>cCg	p.R8P	B3GNT3_ENST00000595387.1_Missense_Mutation_p.R8P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	8					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.R8P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGGCACCGGCGGCCCAATGCC	0.622																																						uc002nhk.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(22-24)CGG>CCG		UDP-GlcNAc:betaGal							27.0	28.0	28.0					19																	17918639		2203	4296	6499	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918639G>C	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.23G>C	19.37:g.17918639G>C	ENSP00000321874:p.Arg8Pro					B3GNT3_uc002nhl.1_Missense_Mutation_p.R8P|B3GNT3_uc010ebd.1_Missense_Mutation_p.R8P|B3GNT3_uc010ebe.1_Missense_Mutation_p.R8P	p.R8P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	108	+			8			Cytoplasmic (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.23G>C	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191998	0.38707	.	.	ENSG00000179913	ENST00000318683	T	0.28454	1.61	3.38	3.38	0.38709	.	3.961940	0.01574	U	0.020709	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	P	0.49862	0.929	P	0.45946	0.498	T	0.37888	-0.9686	10	0.33940	T	0.23	.	10.6004	0.45362	0.0:0.0:1.0:0.0	.	8	Q9Y2A9	B3GN3_HUMAN	P	8	ENSP00000321874:R8P	ENSP00000321874:R8P	R	+	2	0	B3GNT3	17779639	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	0.503000	0.22610	1.597000	0.50072	0.491000	0.48974	CGG		PASS	0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		8	32	8	32	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39912892	39912892	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr19:39912892G>T	ENST00000409794.3	+	17	2491	c.1641G>T	c.(1639-1641)ctG>ctT	p.L547L	PLEKHG2_ENST00000409797.2_Silent_p.L547L|PLEKHG2_ENST00000378550.1_Silent_p.L547L|PLEKHG2_ENST00000458508.2_Silent_p.L488L|PLEKHG2_ENST00000425673.1_Silent_p.L518L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	547					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L488L(1)|p.L505L(1)|p.L547L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGAAATCCTGGAACTGCTGA	0.607																																						uc010xuz.1																			3	Substitution - coding silent(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(1639-1641)CTG>CTT		common-site lymphoma/leukemia guanine nucleotide							62.0	59.0	60.0					19																	39912892		2203	4300	6503	SO:0001819	synonymous_variant	64857				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.chr19:39912892G>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1641G>T	19.37:g.39912892G>T						PLEKHG2_uc010xuy.1_Silent_p.L488L|PLEKHG2_uc002olj.2_Silent_p.L547L|PLEKHG2_uc010xva.1_Silent_p.L325L	p.L547L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	1966	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		547					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.1641G>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	G	3.070	-0.191304	0.06299	.	.	ENSG00000090924	ENST00000205135	.	.	.	5.69	4.66	0.58398	.	.	.	.	.	T	0.63165	0.2488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61515	-0.7047	4	.	.	.	.	11.5961	0.50975	0.0877:0.0:0.9123:0.0	.	.	.	.	L	415	.	.	W	+	2	0	PLEKHG2	44604732	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	2.493000	0.45320	1.378000	0.46305	0.650000	0.86243	TGG		PASS	0.607	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		5	14	5	14	---	---	---	---
ZNF112	7771	broad.mit.edu	37	19	44844689	44844689	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr19:44844689C>A	ENST00000337401.4	-	3	109	c.21G>T	c.(19-21)atG>atT	p.M7I	ZNF112_ENST00000536500.1_Missense_Mutation_p.M24I|CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.M6I|ZNF112_ENST00000354340.4_Start_Codon_SNP_p.M1I	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	7					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.M1I(1)|p.M7I(1)									TGAATGTCACCATCTCCTACA	0.507																																						uc010ejj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(19-21)ATG>ATT		zinc finger protein 228 isoform 1							196.0	170.0	179.0					19																	44844689		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44844689C>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.21G>T	19.37:g.44844689C>A	ENSP00000337081:p.Met7Ile					ZFP112_uc002ozc.3_Missense_Mutation_p.M1I|ZFP112_uc010xwy.1_Missense_Mutation_p.M24I|ZFP112_uc010xwz.1_Missense_Mutation_p.M6I	p.M7I	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			3	134	-			7					A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.21G>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370547	0.24771	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.00760	5.73;5.73;5.73	4.0	-1.85	0.07784	Krueppel-associated box (1);	0.955033	0.08446	N	0.944660	T	0.00724	0.0024	L	0.29908	0.895	0.18873	N	0.999984	B;B;B	0.21606	0.035;0.058;0.035	B;B;B	0.17098	0.007;0.017;0.007	T	0.43909	-0.9362	10	0.17369	T	0.5	-0.0678	9.6277	0.39761	0.0:0.8039:0.0:0.1961	.	6;24;7	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	I	7;7;1;24;6	ENSP00000337081:M7I;ENSP00000346305:M1I;ENSP00000441990:M24I	ENSP00000253426:M6I	M	-	3	0	ZNF285	49536529	0.004000	0.15560	0.226000	0.23910	0.757000	0.42996	-0.417000	0.07088	-0.223000	0.09943	0.557000	0.71058	ATG		PASS	0.507	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		25	50	25	50	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52618360	52618360	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr19:52618360T>A	ENST00000600228.1	-	4	2318	c.2057A>T	c.(2056-2058)aAg>aTg	p.K686M	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	686					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.K686M(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATATGGTTTCTTTCCTGCATG	0.393																																						uc002pym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2056-2058)AAG>ATG		zinc finger protein 616							148.0	138.0	141.0					19																	52618360		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618360T>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2057A>T	19.37:g.52618360T>A	ENSP00000471000:p.Lys686Met					ZNF616_uc002pyn.2_RNA	p.K686M	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2340	-			686					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2057A>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809909	0.50421	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.78	1.78	0.24846	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41949	0.1181	L	0.55017	1.72	0.25667	N	0.985935	B	0.15719	0.014	B	0.17098	0.017	T	0.43180	-0.9407	8	0.72032	D	0.01	.	8.3514	0.32305	0.0:0.0:0.0:1.0	.	686	Q08AN1	ZN616_HUMAN	M	686	.	ENSP00000328722:K686M	K	-	2	0	ZNF616	57310172	0.000000	0.05858	0.006000	0.13384	0.776000	0.43924	0.107000	0.15375	0.802000	0.34089	0.254000	0.18369	AAG		PASS	0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		36	112	36	112	---	---	---	---
KIR3DX1	90011	broad.mit.edu	37	19	55048148	55048148	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr19:55048148A>T	ENST00000335056.3	+	5	753	c.715A>T	c.(715-717)Aag>Tag	p.K239*	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	239	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.K239*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCTGGGAGAGAAGTTGACCCT	0.502											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	uc010erm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(16-18)AAG>TAG		Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1, mRNA (cDNA clone IMAGE:4849085).							67.0	68.0	68.0					19																	55048148		1915	4138	6053	SO:0001587	stop_gained	90011							g.chr19:55048148A>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.715A>T	19.37:g.55048148A>T	ENSP00000335388:p.Lys239*		OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1004	KIR3DX1_uc010yfa.1_RNA|KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA	p.K6*						GBM - Glioblastoma multiforme(193;0.099)	1	28	+								B7WNL0|Q8N0S4	Nonsense_Mutation	SNP	ENST00000335056.3	37	c.16A>T		.	.	.	.	.	.	.	.	.	.	A	15.45	2.838222	0.51057	.	.	ENSG00000104970	ENST00000335056	.	.	.	1.9	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.8105	0.18463	1.0:0.0:0.0:0.0	.	.	.	.	X	239	.	ENSP00000221567:K239X	K	+	1	0	KIR3DX1	59739960	0.022000	0.18835	0.127000	0.21898	0.013000	0.08279	1.596000	0.36718	1.146000	0.42352	0.528000	0.53228	AAG		PASS	0.502	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		6	23	6	23	---	---	---	---
ANGPT4	51378	broad.mit.edu	37	20	853651	853651	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr20:853651G>A	ENST00000381922.3	-	9	1566	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	488	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S488S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCAGTGAGTAGCTGGGGCCCT	0.582																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1462-1464)AGC>AGT		angiopoietin 4 precursor							132.0	117.0	122.0					20																	853651		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:853651G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1464C>T	20.37:g.853651G>A						ANGPT4_uc010zpn.1_3'UTR	p.S488S	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			9	1567	-			488			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.1464C>T	CCDS13009.1																																																																																				PASS	0.582	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		8	36	8	36	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9434026	9434026	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr20:9434026G>A	ENST00000378493.1	+	29	2892	c.2877G>A	c.(2875-2877)acG>acA	p.T959T	PLCB4_ENST00000378501.2_Silent_p.T959T|PLCB4_ENST00000278655.4_Silent_p.T959T|PLCB4_ENST00000334005.3_Silent_p.T959T|PLCB4_ENST00000414679.2_Silent_p.T971T|PLCB4_ENST00000378473.3_Silent_p.T971T|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	959					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.T959T(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						TACACTGCACGCAAGTTGACA	0.418																																						uc002wnf.2																			1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(2875-2877)ACG>ACA		phospholipase C beta 4 isoform b							154.0	134.0	141.0					20																	9434026		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9434026G>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.2877G>A	20.37:g.9434026G>A						PLCB4_uc010gbw.1_Silent_p.T959T|PLCB4_uc010gbx.2_Silent_p.T971T|PLCB4_uc002wne.2_Silent_p.T959T|PLCB4_uc002wnh.2_Silent_p.T806T	p.T959T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			31	3013	+			959					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.2877G>A	CCDS13105.1																																																																																				PASS	0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			11	18	11	18	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47887968	47887969	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr20:47887968_47887969CC>AA	ENST00000396105.1	-	3	626_627	c.380_381GG>TT	c.(379-381)tGG>tTT	p.W127F	ZNFX1_ENST00000371752.1_Missense_Mutation_p.W127F|ZNFX1_ENST00000371754.4_Missense_Mutation_p.W127F	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	127							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.W127C(2)|p.W127F(2)|p.W127L(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGGAGTCCGCCACTGCTGGAA	0.53																																						uc002xui.2																			6	Substitution - Missense(6)		lung(6)	ovary(2)	2						c.(379-381)TGG>TGT|c.(379-381)TGG>TTG		zinc finger, NFX1-type containing 1																																				SO:0001583	missense	57169						metal ion binding	g.chr20:47887968C>A|g.chr20:47887969C>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.380_381delinsAA	20.37:g.47887968_47887969delinsAA	ENSP00000379412:p.Trp127Phe						p.W127C|p.W127L	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	628|627	-			127					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.381G>T|c.380G>T	CCDS13417.1																																																																																				PASS	0.530	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		47|46	139|135	46	135	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10914394	10914394	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr21:10914394A>G	ENST00000361285.4	-	21	1654	c.1325T>C	c.(1324-1326)gTc>gCc	p.V442A	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.V424A|TPTE_ENST00000342420.5_Missense_Mutation_p.V404A	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	442	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.V424A(1)|p.V442A(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)		AGTGGAAAAGACAACCTTTTT	0.323																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1324-1326)GTC>GCC		transmembrane phosphatase with tensin homology							91.0	79.0	83.0					21																	10914394		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914394A>G	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.1325T>C	21.37:g.10914394A>G	ENSP00000355208:p.Val442Ala					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V424A|TPTE_uc002yir.1_Missense_Mutation_p.V404A|TPTE_uc010gkv.1_Missense_Mutation_p.V304A	p.V442A	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	1693	-			442			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1325T>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.69	2.014308	0.35511	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86694	-2.16;-2.16;-2.16	2.15	2.15	0.27550	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.204736	0.40469	U	0.001086	D	0.88183	0.6368	M	0.79475	2.455	0.09310	N	1	P;P;B	0.48911	0.917;0.917;0.05	P;P;B	0.51055	0.657;0.657;0.159	T	0.80491	-0.1359	10	0.87932	D	0	-7.0396	6.321	0.21217	1.0:0.0:0.0:0.0	.	404;424;442	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	A	424;442;404	ENSP00000298232:V424A;ENSP00000355208:V442A;ENSP00000344441:V404A	ENSP00000298232:V424A	V	-	2	0	TPTE	9936265	0.524000	0.26282	0.011000	0.14972	0.115000	0.19883	1.362000	0.34148	1.242000	0.43836	0.155000	0.16302	GTC		PASS	0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	44	4	44	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32598070	32598070	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr21:32598070G>C	ENST00000286827.3	-	8	2252	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Nonsense_Mutation_p.S594*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	594					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.S594*(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						CTTTTTCTTTGAGTCAGTGAC	0.358																																						uc002yow.1																			2	Substitution - Nonsense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1780-1782)TCA>TGA		T-cell lymphoma invasion and metastasis 1							138.0	132.0	134.0					21																	32598070		2203	4300	6503	SO:0001587	stop_gained	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.chr21:32598070G>C		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.1781C>G	21.37:g.32598070G>C	ENSP00000286827:p.Ser594*					TIAM1_uc011adk.1_Nonsense_Mutation_p.S594*|TIAM1_uc011adl.1_Nonsense_Mutation_p.S594*|TIAM1_uc002yox.1_Nonsense_Mutation_p.S202*	p.S594*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			8	2253	-			594					B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	ENST00000286827.3	37	c.1781C>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	43	9.931745	0.99298	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	4.78	4.78	0.61160	.	0.269283	0.37809	N	0.001938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.0085	0.89216	0.0:0.0:1.0:0.0	.	.	.	.	X	594;435;594	.	ENSP00000286827:S594X	S	-	2	0	TIAM1	31519941	1.000000	0.71417	0.891000	0.34965	0.982000	0.71751	5.277000	0.65586	2.472000	0.83506	0.655000	0.94253	TCA		PASS	0.358	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		25	64	25	64	---	---	---	---
USP18	11274	broad.mit.edu	37	22	18650677	18650677	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr22:18650677G>T	ENST00000215794.7	+	6	931	c.501G>T	c.(499-501)ctG>ctT	p.L167L		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	167	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.L167L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TGCAGGCCCTGTATACGATCC	0.547																																						uc002zny.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(499-501)CTG>CTT		ubiquitin specific protease 18							114.0	89.0	97.0					22																	18650677		2203	4300	6503	SO:0001819	synonymous_variant	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18650677G>T	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.501G>T	22.37:g.18650677G>T							p.L167L	NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN			6	839	+			167					Q53Y90|Q6IAD9|Q9NY71	Silent	SNP	ENST00000215794.7	37	c.501G>T	CCDS13752.1																																																																																				PASS	0.547	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			11	33	11	33	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20929434	20929434	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr22:20929434A>G	ENST00000263205.7	+	9	1256	c.1187A>G	c.(1186-1188)cAc>cGc	p.H396R	MED15_ENST00000406969.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000541476.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	396	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.H396R(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GGTGGGATGCACATAAGAGCC	0.582																																						uc002zsp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1186-1188)CAC>CGC		mediator complex subunit 15 isoform a							152.0	136.0	142.0					22																	20929434		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929434A>G	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1187A>G	22.37:g.20929434A>G	ENSP00000263205:p.His396Arg					MED15_uc002zsq.2_Intron|MED15_uc010gso.2_Intron|MED15_uc002zsr.2_Intron|MED15_uc011ahs.1_Intron|MED15_uc002zss.2_Intron|MED15_uc011ahu.1_Missense_Mutation_p.H122R|MED15_uc002zst.2_Missense_Mutation_p.H12R	p.H396R	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1267	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	396			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1187A>G	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275274	0.23307	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.29	5.29	0.74685	Mediator complex, subunit Med15, metazoa (1);	0.625177	0.16747	N	0.201209	T	0.39517	0.1081	N	0.19112	0.55	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12156	0.007;0.007	T	0.22800	-1.0206	9	0.17369	T	0.5	.	9.4174	0.38530	0.8207:0.1793:0.0:0.0	.	342;396	B4DGD6;Q96RN5	.;MED15_HUMAN	R	396;342	.	ENSP00000263205:H396R	H	+	2	0	MED15	19259434	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.071000	0.57556	2.009000	0.58944	0.482000	0.46254	CAC		PASS	0.582	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		32	106	32	106	---	---	---	---
THAP7	80764	broad.mit.edu	37	22	21355637	21355637	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr22:21355637G>A	ENST00000215742.4	-	2	318	c.144C>T	c.(142-144)ccC>ccT	p.P48P	THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_Silent_p.P48P|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	48					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)	p.P48P(1)		cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGGCCGCTGGGGTCCAGCC	0.617																																						uc002ztr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CCC>CCT		THAP domain containing 7 isoform 2							68.0	75.0	73.0					22																	21355637		2203	4300	6503	SO:0001819	synonymous_variant	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21355637G>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.144C>T	22.37:g.21355637G>A						THAP7_uc002zts.1_Silent_p.P48P|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	p.P48P	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	174	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	48			THAP-type.		B2RD97|D3DX40	Silent	SNP	ENST00000215742.4	37	c.144C>T	CCDS13787.1																																																																																				PASS	0.617	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		43	124	43	124	---	---	---	---
ASB9	140462	broad.mit.edu	37	X	15270382	15270382	+	Missense_Mutation	SNP	T	T	A	rs375423720		TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:15270382T>A	ENST00000380488.4	-	4	700	c.427A>T	c.(427-429)Agg>Tgg	p.R143W	ASB9_ENST00000380485.3_Missense_Mutation_p.R143W|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R143W|ASB9_ENST00000546332.1_Missense_Mutation_p.R143W	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	143					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.R143W(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TTACCTCTCCTAGCAGCTTCA	0.453																																						uc004cwl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(427-429)AGG>TGG		ankyrin repeat and SOCS box-containing 9 isoform							51.0	48.0	49.0					X																	15270382		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15270382T>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.427A>T	X.37:g.15270382T>A	ENSP00000369855:p.Arg143Trp					ASB9_uc004cwk.2_Missense_Mutation_p.R143W|ASB9_uc004cwm.2_Missense_Mutation_p.R143W|ASB9_uc010ner.2_Missense_Mutation_p.R143W|ASB9_uc004cwn.2_Missense_Mutation_p.R114W	p.R143W	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			4	674	-	Hepatocellular(33;0.183)		143			ANK 4.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.427A>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592064	0.66219	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.66460	0.54;-0.21;-0.21;-0.21	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.344730	0.34603	N	0.003824	T	0.71039	0.3293	L	0.31752	0.955	0.27676	N	0.946616	D;B;D;D	0.71674	0.993;0.253;0.989;0.998	P;B;D;D	0.66979	0.908;0.127;0.948;0.934	T	0.66002	-0.6031	10	0.38643	T	0.18	-17.3663	13.9989	0.64421	0.0:0.0:0.0:1.0	.	114;143;143;143	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	W	143	ENSP00000369850:R143W;ENSP00000369852:R143W;ENSP00000369855:R143W;ENSP00000438943:R143W	ENSP00000369850:R143W	R	-	1	2	ASB9	15180303	1.000000	0.71417	0.840000	0.33206	0.391000	0.30476	6.341000	0.72977	1.903000	0.55091	0.413000	0.27773	AGG		PASS	0.453	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			10	25	10	25	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627564	21627564	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:21627564A>T	ENST00000379510.3	+	20	2557	c.2521A>T	c.(2521-2523)Aag>Tag	p.K841*	CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.K792*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.K841*|CNKSR2_ENST00000425654.2_Nonsense_Mutation_p.K811*	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	841					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.K841*(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAATGGGGGCAAGCCTCGAAG	0.532																																						uc004czx.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(2521-2523)AAG>TAG		connector enhancer of kinase suppressor of Ras							85.0	75.0	79.0					X																	21627564		2203	4300	6503	SO:0001587	stop_gained	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627564A>T	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.2521A>T	X.37:g.21627564A>T	ENSP00000368824:p.Lys841*					CNKSR2_uc004czw.2_Nonsense_Mutation_p.K841*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.K792*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.K811*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.K433*	p.K841*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			20	2557	+			841					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Nonsense_Mutation	SNP	ENST00000379510.3	37	c.2521A>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	39	7.809108	0.98501	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.51	5.51	0.81932	.	0.043313	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4031	14.6111	0.68517	1.0:0.0:0.0:0.0	.	.	.	.	X	811;792;841;841	.	ENSP00000279451:K841X	K	+	1	0	CNKSR2	21537485	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.730000	0.91510	1.831000	0.53308	0.417000	0.27973	AAG		PASS	0.532	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		16	44	16	44	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23019932	23019932	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:23019932G>T	ENST00000327968.5	+	1	1846	c.1758G>T	c.(1756-1758)ctG>ctT	p.L586L	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	586	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.L586L(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TTAAAATTCTGGACAGAGCAA	0.423																																						uc004daj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(1756-1758)CTG>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							79.0	77.0	78.0					X																	23019932		2203	4300	6503	SO:0001819	synonymous_variant	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019932G>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1758G>T	X.37:g.23019932G>T							p.L586L	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1846	+			586			Helicase C-terminal.		Q0D2N2|Q6NVV4	Silent	SNP	ENST00000327968.5	37	c.1758G>T	CCDS35214.1																																																																																				PASS	0.423	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		15	55	15	55	---	---	---	---
PTCHD1	139411	broad.mit.edu	37	X	23397917	23397917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:23397917C>A	ENST00000379361.4	+	2	1421	c.561C>A	c.(559-561)taC>taA	p.Y187*		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	187					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.Y187*(1)|p.Y82*(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGGCTGTGTACAATGGGCACC	0.532																																						uc004dal.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(559-561)TAC>TAA		patched domain containing 1							122.0	109.0	113.0					X																	23397917		2203	4300	6503	SO:0001587	stop_gained	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397917C>A	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.561C>A	X.37:g.23397917C>A	ENSP00000368666:p.Tyr187*					PTCHD1_uc010nfu.1_Nonsense_Mutation_p.Y187*	p.Y187*	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	569	+			187					B4DQH0|Q0IJ60|Q6P6B8	Nonsense_Mutation	SNP	ENST00000379361.4	37	c.561C>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	44	10.595428	0.99434	.	.	ENSG00000165186	ENST00000379361	.	.	.	4.97	1.2	0.21068	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3163	0.37937	0.0:0.5708:0.0:0.4292	.	.	.	.	X	187	.	ENSP00000368666:Y187X	Y	+	3	2	PTCHD1	23307838	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	0.714000	0.25808	0.212000	0.20703	0.600000	0.82982	TAC		PASS	0.532	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		35	91	35	91	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028238	37028238	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:37028238G>A	ENST00000358047.3	+	1	1807	c.1755G>A	c.(1753-1755)gaG>gaA	p.E585E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	585								p.E585E(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						TCTGCCCAGAGCCTCCCAAGA	0.642																																						uc004ddl.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1753-1755)GAG>GAA		hypothetical protein LOC442444							38.0	43.0	41.0					X																	37028238		2202	4299	6501	SO:0001819	synonymous_variant	442444							g.chrX:37028238G>A	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.1755G>A	X.37:g.37028238G>A							p.E585E	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1769	+			585					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1755G>A	CCDS35227.1																																																																																				PASS	0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		19	42	19	42	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028815	37028815	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:37028815C>A	ENST00000358047.3	+	1	2384	c.2332C>A	c.(2332-2334)Ctt>Att	p.L778I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	778								p.L778I(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						CCACCCAGAGCTTCCCAAGCC	0.632																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2332-2334)CTT>ATT		hypothetical protein LOC442444							37.0	38.0	38.0					X																	37028815		2202	4299	6501	SO:0001583	missense	442444							g.chrX:37028815C>A	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.2332C>A	X.37:g.37028815C>A	ENSP00000367913:p.Leu778Ile						p.L778I	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2346	+			778					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2332C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.140	-0.176496	0.06380	.	.	ENSG00000198173	ENST00000358047	T	0.15487	2.42	0.118	0.118	0.14667	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	0.999999	P	0.34684	0.463	B	0.23574	0.047	T	0.34650	-0.9820	9	0.30078	T	0.28	.	5.9917	0.19470	0.0:0.9994:0.0:6.0E-4	.	778	Q5HY64	FA47C_HUMAN	I	778	ENSP00000367913:L778I	ENSP00000367913:L778I	L	+	1	0	FAM47C	36938736	0.007000	0.16637	0.006000	0.13384	0.006000	0.05464	1.202000	0.32271	0.179000	0.19938	0.181000	0.17075	CTT		PASS	0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	32	7	32	---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47271926	47271926	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:47271926C>A	ENST00000377073.3	+	4	540	c.454C>A	c.(454-456)Cgt>Agt	p.R152S		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	152					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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.R152S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTTTGTTAGACGTAAAAGAAC	0.373																																						uc004dhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CGT>AGT		zinc finger protein 157							77.0	66.0	70.0					X																	47271926		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47271926C>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.454C>A	X.37:g.47271926C>A	ENSP00000366273:p.Arg152Ser						p.R152S	NM_003446	NP_003437	P51786	ZN157_HUMAN			4	523	+			152					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.454C>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822396	0.32237	.	.	ENSG00000147117	ENST00000377073	T	0.14893	2.47	2.94	2.07	0.26955	.	.	.	.	.	T	0.09202	0.0227	N	0.11201	0.11	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.27971	-1.0058	9	0.87932	D	0	.	7.3506	0.26689	0.0:0.8571:0.0:0.1429	.	152	P51786	ZN157_HUMAN	S	152	ENSP00000366273:R152S	ENSP00000366273:R152S	R	+	1	0	ZNF157	47156870	0.379000	0.25123	0.001000	0.08648	0.319000	0.28217	3.136000	0.50554	0.646000	0.30693	0.523000	0.50628	CGT		PASS	0.373	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		18	36	18	36	---	---	---	---
SYN1	6853	broad.mit.edu	37	X	47478795	47478795	+	Silent	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:47478795G>T	ENST00000295987.7	-	1	457	c.333C>A	c.(331-333)gcC>gcA	p.A111A	SYN1_ENST00000340666.4_Silent_p.A111A	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	111	B; linker.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.A111A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CCCTGGAGGCGGCTCCCCCGC	0.716																																						uc004die.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(331-333)GCC>GCA		synapsin I isoform Ia							5.0	6.0	6.0					X																	47478795		1742	3555	5297	SO:0001819	synonymous_variant	6853					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	g.chrX:47478795G>T		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.333C>A	X.37:g.47478795G>T						SYN1_uc004did.2_Silent_p.A111A	p.A111A	NM_006950	NP_008881	P17600	SYN1_HUMAN			1	462	-			111			B; linker.		B1AJQ1|O75825|Q5H9A9	Silent	SNP	ENST00000295987.7	37	c.333C>A	CCDS14280.1																																																																																				PASS	0.716	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		3	7	3	7	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49855383	49855383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:49855383G>T	ENST00000307367.2	+	11	2281	c.1990G>T	c.(1990-1992)Gag>Tag	p.E664*	CLCN5_ENST00000376091.3_Nonsense_Mutation_p.E734*|CLCN5_ENST00000376088.3_Nonsense_Mutation_p.E734*|CLCN5_ENST00000376108.3_Nonsense_Mutation_p.E664*			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	664					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E734*(1)|p.E664*(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTATTTCACGGAGCATTCTCC	0.448																																						uc004dos.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1990-1992)GAG>TAG		chloride channel 5 isoform b							132.0	106.0	115.0					X																	49855383		2203	4300	6503	SO:0001587	stop_gained	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49855383G>T	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1990G>T	X.37:g.49855383G>T	ENSP00000304257:p.Glu664*					CLCN5_uc004dor.1_Nonsense_Mutation_p.E734*|CLCN5_uc004doq.1_Nonsense_Mutation_p.E734*|CLCN5_uc004dot.1_Nonsense_Mutation_p.E664*	p.E664*	NM_000084	NP_000075	P51795	CLCN5_HUMAN			11	2238	+	Ovarian(276;0.236)		664			Cytoplasmic (By similarity).		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Nonsense_Mutation	SNP	ENST00000307367.2	37	c.1990G>T	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	40	8.249984	0.98727	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	.	.	.	5.39	5.39	0.77823	.	0.102064	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-14.6702	12.9287	0.58275	0.0:0.1591:0.8409:0.0	.	.	.	.	X	734;566;734;664;664	.	ENSP00000304257:E664X	E	+	1	0	CLCN5	49742123	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.252000	0.58785	2.401000	0.81631	0.600000	0.82982	GAG		PASS	0.448	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			6	14	6	14	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958335	49958335	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:49958335G>T	ENST00000376056.2	-	5	1152	c.1002C>A	c.(1000-1002)gaC>gaA	p.D334E	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.D334E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.D343E					A kinase (PRKA) anchor protein 4									p.D343E(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGACCATCATGTCAGATGCCA	0.488																																						uc004dow.1																			1	Substitution - Missense(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(1027-1029)GAC>GAA		A-kinase anchor protein 4 isoform 1							57.0	50.0	52.0					X																	49958335		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958335G>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1002C>A	X.37:g.49958335G>T	ENSP00000365224:p.Asp334Glu					AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.D165E|AKAP4_uc004dou.1_Missense_Mutation_p.D334E	p.D343E	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	1153	-	Ovarian(276;0.236)		343			PKA-RI-alpha subunit binding domain (By similarity).			Missense_Mutation	SNP	ENST00000376056.2	37	c.1029C>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251613	0.39797	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.14266	2.52;2.52;2.52	4.97	1.19	0.21007	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.51477	D	0.000085	T	0.31389	0.0795	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00936	-1.1508	9	.	.	.	-16.5689	7.1241	0.25461	0.3902:0.0:0.6098:0.0	.	343	Q5JQC9	AKAP4_HUMAN	E	334;343;334	ENSP00000365224:D334E;ENSP00000351327:D343E;ENSP00000365232:D334E	.	D	-	3	2	AKAP4	49845075	1.000000	0.71417	0.995000	0.50966	0.628000	0.37860	0.874000	0.28065	-0.192000	0.10432	0.456000	0.33151	GAC		PASS	0.488	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		7	17	7	17	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50094328	50094328	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:50094328C>A	ENST00000376042.1	+	12	4347	c.4049C>A	c.(4048-4050)tCt>tAt	p.S1350Y	CCNB3_ENST00000276014.7_Missense_Mutation_p.S1350Y|CCNB3_ENST00000348603.2_Missense_Mutation_p.S246Y|CCNB3_ENST00000376038.1_Missense_Mutation_p.S246Y			Q8WWL7	CCNB3_HUMAN	cyclin B3	1350					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S1350Y(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACTTTCAGTTCTTACGATAGT	0.458																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(4048-4050)TCT>TAT		cyclin B3 isoform 3							179.0	161.0	167.0					X																	50094328		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50094328C>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4049C>A	X.37:g.50094328C>A	ENSP00000365210:p.Ser1350Tyr					CCNB3_uc004doy.2_Missense_Mutation_p.S1350Y|CCNB3_uc004doz.2_Missense_Mutation_p.S246Y|CCNB3_uc010njq.2_Missense_Mutation_p.S242Y|CCNB3_uc004dpa.2_Missense_Mutation_p.S189Y	p.S1350Y	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			12	4347	+	Ovarian(276;0.236)		1350					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.4049C>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505062	0.26949	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.08	-3.17	0.05202	Cyclin, C-terminal (1);Cyclin-like (2);	1.480890	0.03813	N	0.266317	T	0.26412	0.0645	M	0.64080	1.96	0.09310	N	1	P;B;P	0.41420	0.636;0.355;0.749	B;B;B	0.44044	0.439;0.093;0.439	T	0.27054	-1.0085	9	.	.	.	.	0.4066	0.00434	0.2773:0.2913:0.1965:0.2349	.	1350;246;1350	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	Y	1350;246;246;1350	ENSP00000365210:S1350Y;ENSP00000365206:S246Y;ENSP00000338682:S246Y;ENSP00000276014:S1350Y	.	S	+	2	0	CCNB3	50111068	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.323000	0.07997	-0.405000	0.07599	0.529000	0.55759	TCT		PASS	0.458	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			51	137	51	137	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62857963	62857963	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:62857963C>T	ENST00000253401.6	-	10	2296	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	499					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493																																						uc004dvl.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(1495-1497)CGC>CAC		Cdc42 guanine exchange factor 9							72.0	62.0	65.0					X																	62857963		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62857963C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1496G>A	X.37:g.62857963C>T	ENSP00000253401:p.Arg499His					ARHGEF9_uc004dvj.1_Missense_Mutation_p.R388H|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R317H|ARHGEF9_uc011mos.1_Missense_Mutation_p.R478H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R478H|ARHGEF9_uc011mot.1_Missense_Mutation_p.R446H	p.R499H	NM_015185	NP_056000	O43307	ARHG9_HUMAN			10	2335	-			499					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1496G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645618	0.87958	.	.	ENSG00000131089	ENST00000253401;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T	0.76968	-0.91;-1.06;-0.77;-0.61;-1.0	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	L	0.56199	1.76	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.998;0.997	P;P;P	0.62435	0.902;0.902;0.861	D	0.86055	0.1528	10	0.72032	D	0.01	.	16.5115	0.84287	0.0:1.0:0.0:0.0	.	446;499;499	B4DHC7;O43307;A8K1S8	.;ARHG9_HUMAN;.	H	499;446;397;226;478	ENSP00000253401:R499H;ENSP00000399994:R446H;ENSP00000364004:R397H;ENSP00000404478:R226H;ENSP00000364006:R478H	ENSP00000253401:R499H	R	-	2	0	ARHGEF9	62774688	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.271000	0.78506	2.205000	0.71048	0.429000	0.28392	CGC		PASS	0.493	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			3	11	3	11	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70469503	70469503	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:70469503G>A	ENST00000353904.2	-	7	1465	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	ZMYM3_ENST00000373984.3_Silent_p.S428S|ZMYM3_ENST00000373978.1_Missense_Mutation_p.A330V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.S426S|ZMYM3_ENST00000373982.1_Silent_p.S428S|ZMYM3_ENST00000373981.1_Silent_p.S426S|ZMYM3_ENST00000373998.1_Silent_p.S426S|ZMYM3_ENST00000373988.1_Silent_p.S428S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	426					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S426S(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGTGTACCACGCTGCCATTGC	0.592																																						uc004dzh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1276-1278)AGC>AGT		zinc finger protein 261							106.0	70.0	82.0					X																	70469503		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469503G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1278C>T	X.37:g.70469503G>A						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.S426S|ZMYM3_uc004dzj.1_Silent_p.S426S|ZMYM3_uc011mpu.1_Silent_p.S157S|ZMYM3_uc004dzk.3_Silent_p.S426S|ZMYM3_uc004dzl.3_Silent_p.S426S|ZMYM3_uc004dzm.3_Silent_p.S426S	p.S426S	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			7	1365	-	Renal(35;0.156)		426					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.1278C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	14.73	2.621228	0.46736	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.43	3.57	0.40892	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64833	-0.6314	5	0.87932	D	0	-6.1981	7.9806	0.30181	0.2721:0.0:0.7279:0.0	.	.	.	.	V	330	.	ENSP00000363090:A330V	A	-	2	0	ZMYM3	70386228	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	0.204000	0.17335	0.868000	0.35678	0.464000	0.42555	GCG		PASS	0.592	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		3	16	3	16	---	---	---	---
HDAC8	55869	broad.mit.edu	37	X	71708787	71708787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:71708787C>A	ENST00000373573.3	-	7	1074	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	HDAC8_ENST00000478743.1_5'Flank|HDAC8_ENST00000429103.2_Nonsense_Mutation_p.E50*|HDAC8_ENST00000373589.4_Nonsense_Mutation_p.E154*|HDAC8_ENST00000373571.1_Nonsense_Mutation_p.E245*|HDAC8_ENST00000439122.2_Nonsense_Mutation_p.E245*|HDAC8_ENST00000373561.4_Nonsense_Mutation_p.E245*|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000373559.4_Nonsense_Mutation_p.E128*|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	245	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|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)|transcription factor binding (GO:0008134)	p.E245*(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CCATACCTTTCACAGATCTGG	0.423																																						uc004eau.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(733-735)GAA>TAA		histone deacetylase 8	Vorinostat(DB02546)						149.0	104.0	119.0					X																	71708787		2203	4300	6503	SO:0001587	stop_gained	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion 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)|transcription factor binding	g.chrX:71708787C>A	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.733G>T	X.37:g.71708787C>A	ENSP00000362674:p.Glu245*					HDAC8_uc011mqe.1_Nonsense_Mutation_p.E102*|HDAC8_uc011mqf.1_Nonsense_Mutation_p.E50*|HDAC8_uc011mqg.1_Nonsense_Mutation_p.E154*|HDAC8_uc011mqh.1_Nonsense_Mutation_p.E154*|HDAC8_uc010nlk.1_Nonsense_Mutation_p.E116*|HDAC8_uc004eav.2_Nonsense_Mutation_p.E245*|HDAC8_uc004eaw.2_RNA	p.E245*	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN			7	775	-	Renal(35;0.156)		245			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Nonsense_Mutation	SNP	ENST00000373573.3	37	c.733G>T	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886138	0.91814	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373559;ENST00000373561	.	.	.	4.99	4.99	0.66335	.	0.325875	0.35646	N	0.003072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	15.1879	0.73020	0.0:1.0:0.0:0.0	.	.	.	.	X	245;154;50;154;219;245;245;128;245	.	ENSP00000362660:E128X	E	-	1	0	HDAC8	71625512	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.275000	0.43399	2.393000	0.81446	0.600000	0.82982	GAA		PASS	0.423	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		21	34	21	34	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433074	72433074	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:72433074C>A	ENST00000373517.3	-	1	1610	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G277W	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	419					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G419W(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTAACTACCCCCTCCTGCTGA	0.338																																						uc004ebi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1255-1257)GGG>TGG		nucleosome assembly protein 1-like 2							71.0	65.0	67.0					X																	72433074		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433074C>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1255G>T	X.37:g.72433074C>A	ENSP00000362616:p.Gly419Trp					NAP1L2_uc011mqj.1_Missense_Mutation_p.G277W	p.G419W	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	1611	-	Renal(35;0.156)		419					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.1255G>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640620	0.47153	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.39787	1.22;1.06	3.03	3.03	0.35002	.	0.128544	0.50627	U	0.000104	T	0.48960	0.1529	L	0.29908	0.895	0.34990	D	0.754968	D	0.89917	1.0	D	0.79108	0.992	T	0.62497	-0.6842	10	0.87932	D	0	-11.6147	11.1562	0.48489	0.0:1.0:0.0:0.0	.	419	Q9ULW6	NP1L2_HUMAN	W	419;277	ENSP00000362616:G419W;ENSP00000441555:G277W	ENSP00000362616:G419W	G	-	1	0	NAP1L2	72349799	0.088000	0.21588	1.000000	0.80357	0.997000	0.91878	1.353000	0.34045	1.758000	0.51981	0.513000	0.50165	GGG		PASS	0.338	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	38	7	38	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047209	73047209	+	lincRNA	SNP	A	A	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:73047209A>T	ENST00000604411.1	+	0	35170				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGATAGATTCATGAAGAGGCT	0.388																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							44.0	40.0	41.0					X																	73047209		876	1991	2867			9383							g.chrX:73047209A>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047209A>T						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.35170A>T																																																																																					PASS	0.388	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		7	16	7	16	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79999651	79999651	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:79999651G>C	ENST00000373275.4	-	8	909	c.693C>G	c.(691-693)aaC>aaG	p.N231K		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	231					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.N231K(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTTTTCATAGTTAACAGCCA	0.448																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(691-693)AAC>AAG		bromodomain and WD repeat domain containing 3							128.0	110.0	116.0					X																	79999651		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999651G>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.693C>G	X.37:g.79999651G>C	ENSP00000362372:p.Asn231Lys					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.N60K|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.N231K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	956	-			231			WD 3.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.693C>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363160	0.61513	.	.	ENSG00000165288	ENST00000373275	T	0.61040	0.14	4.42	3.54	0.40534	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.114054	0.56097	D	0.000025	T	0.74442	0.3717	M	0.90309	3.105	0.43798	D	0.996348	D	0.60575	0.988	P	0.62560	0.904	T	0.76121	-0.3075	9	.	.	.	-12.2678	7.5931	0.28033	0.2728:0.0:0.7272:0.0	.	231	Q6RI45	BRWD3_HUMAN	K	231	ENSP00000362372:N231K	.	N	-	3	2	BRWD3	79886307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.183000	0.42565	0.975000	0.38392	0.415000	0.27848	AAC		PASS	0.448	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		18	75	18	75	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134108	91134108	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:91134108A>C	ENST00000373094.1	+	2	3714	c.2869A>C	c.(2869-2871)Aat>Cat	p.N957H	PCDH11X_ENST00000373097.1_Missense_Mutation_p.N957H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N957H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N957H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N957H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N957H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N957H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N957H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N957H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	957					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N957H(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AACTCCCCTGAATTCGAAGCA	0.502																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2869-2871)AAT>CAT		protocadherin 11 X-linked isoform c							241.0	200.0	214.0					X																	91134108		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134108A>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2869A>C	X.37:g.91134108A>C	ENSP00000362186:p.Asn957His					PCDH11X_uc004efl.1_Missense_Mutation_p.N957H|PCDH11X_uc004efo.1_Missense_Mutation_p.N957H|PCDH11X_uc010nmv.1_Missense_Mutation_p.N957H|PCDH11X_uc004efm.1_Missense_Mutation_p.N957H|PCDH11X_uc004efn.1_Missense_Mutation_p.N957H|PCDH11X_uc004efh.1_Missense_Mutation_p.N957H|PCDH11X_uc004efj.1_Missense_Mutation_p.N957H	p.N957H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3714	+			957			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2869A>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	6.755	0.508181	0.12883	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.35	2.78	0.32641	Protocadherin (1);	0.231111	0.44285	D	0.000477	T	0.20170	0.0485	L	0.41236	1.265	0.24484	N	0.994338	B;B;B;B;B;B;B;B	0.19583	0.007;0.007;0.03;0.03;0.03;0.037;0.004;0.004	B;B;B;B;B;B;B;B	0.21360	0.008;0.02;0.02;0.02;0.02;0.034;0.008;0.008	T	0.17992	-1.0351	10	0.49607	T	0.09	.	2.1488	0.03795	0.5912:0.1558:0.0986:0.1543	.	957;957;957;957;957;957;957;957	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	957	ENSP00000378746:N957H;ENSP00000362186:N957H;ENSP00000362189:N957H;ENSP00000355040:N957H;ENSP00000362180:N957H;ENSP00000423762:N957H;ENSP00000355105:N957H;ENSP00000384758:N957H;ENSP00000298274:N957H	ENSP00000298274:N957H	N	+	1	0	PCDH11X	91020764	1.000000	0.71417	0.967000	0.41034	0.877000	0.50540	5.043000	0.64208	0.675000	0.31264	0.486000	0.48141	AAT		PASS	0.502	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		44	115	44	115	---	---	---	---
TAF7L	54457	broad.mit.edu	37	X	100530214	100530214	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:100530214T>C	ENST00000372907.3	-	12	1351	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	TAF7L_ENST00000324762.6_Missense_Mutation_p.E287G|TAF7L_ENST00000372905.2_Missense_Mutation_p.E287G|TAF7L_ENST00000356784.1_Missense_Mutation_p.E361G	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	447					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.E447G(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCTTACCTTCTCATTTTTTTG	0.343																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1339-1341)GAG>GGG		TATA box binding protein-associated factor, RNA							209.0	192.0	198.0					X																	100530214		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100530214T>C	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1340A>G	X.37:g.100530214T>C	ENSP00000361998:p.Glu447Gly					TAF7L_uc004eha.2_Missense_Mutation_p.E287G	p.E447G	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			12	1352	-			447			Potential.		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1340A>G	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262700	0.39995	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25414	3.53;1.8;1.8;3.53	5.12	3.92	0.45320	.	0.556823	0.15323	N	0.268441	T	0.41858	0.1177	M	0.72353	2.195	0.20975	N	0.999815	D;D	0.63880	0.993;0.977	P;P	0.56343	0.796;0.787	T	0.25328	-1.0135	10	0.72032	D	0.01	-6.5401	9.29	0.37780	0.1628:0.0:0.0:0.8372	.	447;287	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	G	447;287;287;361	ENSP00000361998:E447G;ENSP00000361996:E287G;ENSP00000320283:E287G;ENSP00000349235:E361G	ENSP00000320283:E287G	E	-	2	0	TAF7L	100416870	1.000000	0.71417	0.287000	0.24848	0.035000	0.12851	2.790000	0.47821	0.593000	0.29745	0.150000	0.16122	GAG		PASS	0.343	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			33	100	33	100	---	---	---	---
TAF7L	54457	broad.mit.edu	37	X	100530223	100530223	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:100530223T>G	ENST00000372907.3	-	12	1342	c.1331A>C	c.(1330-1332)cAa>cCa	p.Q444P	TAF7L_ENST00000324762.6_Missense_Mutation_p.Q284P|TAF7L_ENST00000372905.2_Missense_Mutation_p.Q284P|TAF7L_ENST00000356784.1_Missense_Mutation_p.Q358P	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	444					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.Q444P(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTCATTTTTTTGTTTTTCCTG	0.323																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1330-1332)CAA>CCA		TATA box binding protein-associated factor, RNA							204.0	187.0	193.0					X																	100530223		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100530223T>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1331A>C	X.37:g.100530223T>G	ENSP00000361998:p.Gln444Pro					TAF7L_uc004eha.2_Missense_Mutation_p.Q284P	p.Q444P	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			12	1343	-			444			Potential.		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1331A>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	6.382	0.438523	0.12104	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.24723	3.69;1.84;1.84;3.69	5.12	3.97	0.46021	.	0.669254	0.12904	N	0.429559	T	0.19087	0.0458	L	0.49126	1.545	0.21325	N	0.999725	P;B	0.37955	0.612;0.256	B;B	0.30943	0.091;0.122	T	0.29243	-1.0018	10	0.72032	D	0.01	-2.1431	4.1637	0.10296	0.0:0.2685:0.0:0.7315	.	444;284	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	P	444;284;284;358	ENSP00000361998:Q444P;ENSP00000361996:Q284P;ENSP00000320283:Q284P;ENSP00000349235:Q358P	ENSP00000320283:Q284P	Q	-	2	0	TAF7L	100416879	0.984000	0.35163	0.004000	0.12327	0.042000	0.13812	2.485000	0.45250	1.712000	0.51347	0.150000	0.16122	CAA		PASS	0.323	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			35	101	35	101	---	---	---	---
MORF4L2	9643	broad.mit.edu	37	X	102931102	102931102	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:102931102C>T	ENST00000441076.2	-	4	1158	c.854G>A	c.(853-855)cGc>cAc	p.R285H	MORF4L2_ENST00000360458.1_Missense_Mutation_p.R285H|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R285H|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R285H|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R285H|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R285H	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	285	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R285H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CAGGGCTTTGCGGTGGTACTC	0.388																																						uc004ekw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)CGC>CAC		mortality factor 4 like 2							105.0	107.0	106.0					X																	102931102		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931102C>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.854G>A	X.37:g.102931102C>T	ENSP00000391969:p.Arg285His					MORF4L2_uc004ela.2_Missense_Mutation_p.R285H|MORF4L2_uc004ekx.2_Missense_Mutation_p.R285H|MORF4L2_uc004elb.2_Missense_Mutation_p.R285H|MORF4L2_uc004eky.2_Missense_Mutation_p.R285H|MORF4L2_uc010nos.2_Missense_Mutation_p.R285H|MORF4L2_uc004ekz.2_Missense_Mutation_p.R285H|MORF4L2_uc011mry.1_Missense_Mutation_p.R285H|MORF4L2_uc011mrz.1_Missense_Mutation_p.R285H|MORF4L2_uc004elc.2_Missense_Mutation_p.R285H|MORF4L2_uc004elf.2_Missense_Mutation_p.R285H|MORF4L2_uc004ele.2_Missense_Mutation_p.R285H|MORF4L2_uc011msa.1_Missense_Mutation_p.R285H|MORF4L2_uc011msb.1_Missense_Mutation_p.R285H|MORF4L2_uc011msc.1_Missense_Mutation_p.R285H|MORF4L2_uc011msd.1_Missense_Mutation_p.R285H|MORF4L2_uc004eld.2_Missense_Mutation_p.R285H	p.R285H	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	2086	-			285					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.854G>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.080997	0.36758	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833	T;T;T;T;T;T;T	0.34667	1.35;1.43;1.35;1.35;1.35;1.35;1.35	4.39	3.54	0.40534	.	0.111328	0.56097	N	0.000025	T	0.35508	0.0934	M	0.68952	2.095	0.50039	D	0.999848	B	0.15473	0.013	B	0.04013	0.001	T	0.31166	-0.9953	10	0.72032	D	0.01	-17.1262	9.882	0.41238	0.0:0.8971:0.0:0.1029	.	285	Q15014	MO4L2_HUMAN	H	285;167;285;285;285;267;285;285	ENSP00000353643:R285H;ENSP00000361703:R167H;ENSP00000415476:R285H;ENSP00000394417:R285H;ENSP00000410532:R285H;ENSP00000391969:R285H;ENSP00000416120:R285H	ENSP00000353643:R285H	R	-	2	0	MORF4L2	102817758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.723000	0.47277	1.220000	0.43490	-0.176000	0.13171	CGC		PASS	0.388	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		27	98	27	98	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106083280	106083280	+	Silent	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:106083280G>A	ENST00000357242.5	+	9	1530	c.1356G>A	c.(1354-1356)ttG>ttA	p.L452L	TBC1D8B_ENST00000276175.3_Silent_p.L446L|TBC1D8B_ENST00000310452.2_Silent_p.L452L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	452							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L452L(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATTACAGTTGAAAGAAAAAA	0.328																																						uc004emo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1354-1356)TTG>TTA		TBC1 domain family, member 8B (with GRAM domain)							82.0	78.0	79.0					X																	106083280		2203	4300	6503	SO:0001819	synonymous_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106083280G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1356G>A	X.37:g.106083280G>A						MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Silent_p.L452L	p.L452L	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			9	1521	+			452					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Silent	SNP	ENST00000357242.5	37	c.1356G>A	CCDS14522.1																																																																																				PASS	0.328	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		12	39	12	39	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118986836	118986836	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:118986836G>A	ENST00000276201.2	-	1	125	c.56C>T	c.(55-57)cCc>cTc	p.P19L	UPF3B_ENST00000345865.2_Missense_Mutation_p.P19L	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	19					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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P19L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GGCCCCGGCGGGGGTTAACAG	0.617																																						uc004erz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(55-57)CCC>CTC		UPF3 regulator of nonsense transcripts homolog B							120.0	117.0	118.0					X																	118986836		2203	4300	6503	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118986836G>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.56C>T	X.37:g.118986836G>A	ENSP00000276201:p.Pro19Leu					UPF3B_uc004esa.1_Missense_Mutation_p.P19L	p.P19L	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			1	133	-			19					D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.56C>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	g	13.30	2.194696	0.38806	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.78126	-1.15;-1.15	3.91	3.91	0.45181	.	0.370102	0.27096	N	0.020949	T	0.67135	0.2861	N	0.24115	0.695	0.09310	N	0.999995	B;B	0.31548	0.328;0.221	B;B	0.37451	0.25;0.127	T	0.63413	-0.6643	10	0.56958	D	0.05	.	10.5391	0.45022	0.0:0.0:1.0:0.0	.	19;19	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	L	19	ENSP00000276201:P19L;ENSP00000245418:P19L	ENSP00000276201:P19L	P	-	2	0	UPF3B	118870864	1.000000	0.71417	0.049000	0.19019	0.006000	0.05464	4.817000	0.62650	1.949000	0.56562	0.591000	0.81541	CCC		PASS	0.617	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			40	118	40	118	---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129394398	129394398	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:129394398G>T	ENST00000370978.4	-	2	179	c.26C>A	c.(25-27)cCa>cAa	p.P9Q		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	9					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.P9Q(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTACTTTTTGGTTGAAAAGG	0.353																																						uc004evm.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(25-27)CCA>CAA		zinc finger protein 280C							120.0	102.0	108.0					X																	129394398		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129394398G>T	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.26C>A	X.37:g.129394398G>T	ENSP00000360017:p.Pro9Gln					ZNF280C_uc010nrf.1_Missense_Mutation_p.P9Q	p.P9Q	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			2	180	-			9					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.26C>A	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	6.972	0.549398	0.13374	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.09723	3.73;2.95	3.69	2.75	0.32379	.	.	.	.	.	T	0.09512	0.0234	L	0.39898	1.24	0.18873	N	0.999987	B;B	0.21381	0.055;0.055	B;B	0.18263	0.021;0.021	T	0.24977	-1.0145	9	0.62326	D	0.03	.	6.7809	0.23646	0.0:0.0:0.6443:0.3557	.	9;9	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Q	9	ENSP00000360017:P9Q;ENSP00000408521:P9Q	ENSP00000066465:P9Q	P	-	2	0	ZNF280C	129222079	0.998000	0.40836	0.581000	0.28614	0.372000	0.29890	1.359000	0.34113	0.828000	0.34709	0.544000	0.68410	CCA		PASS	0.353	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		13	52	13	52	---	---	---	---
MBNL3	55796	broad.mit.edu	37	X	131526209	131526209	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:131526209C>A	ENST00000370853.3	-	3	574	c.496G>T	c.(496-498)Gct>Tct	p.A166S	MBNL3_ENST00000394311.2_Missense_Mutation_p.A70S|MBNL3_ENST00000538204.1_Missense_Mutation_p.A116S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A166S|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.A166S|MBNL3_ENST00000473364.1_5'UTR|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A116S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A70S	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	166	Pro-rich.				mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A166S(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GGGCCAACAGCTCCTGGCATT	0.423																																						uc004ewv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(496-498)GCT>TCT		muscleblind-like 3 isoform G							118.0	104.0	109.0					X																	131526209		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131526209C>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.496G>T	X.37:g.131526209C>A	ENSP00000359890:p.Ala166Ser					uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.A70S|MBNL3_uc004ews.2_Missense_Mutation_p.A70S|MBNL3_uc004ewt.2_Missense_Mutation_p.A116S|MBNL3_uc011muz.1_Missense_Mutation_p.A70S|MBNL3_uc004ewu.3_Missense_Mutation_p.A166S|MBNL3_uc004ewx.1_Missense_Mutation_p.A116S	p.A166S	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN			3	575	-	Acute lymphoblastic leukemia(192;0.000127)		166			Pro-rich.		Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.496G>T	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	2.380	-0.342259	0.05243	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.56	4.69	0.59074	.	0.451517	0.22081	N	0.064898	T	0.18002	0.0432	N	0.03154	-0.405	0.24648	N	0.993533	B;B;B;B;B	0.22851	0.004;0.002;0.002;0.005;0.076	B;B;B;B;B	0.24394	0.037;0.008;0.013;0.025;0.053	T	0.22871	-1.0204	10	0.06236	T	0.91	-1.1223	10.7921	0.46438	0.0:0.7966:0.129:0.0744	.	116;166;166;116;70	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	S	70;116;166;166;116;166;70;70;70	ENSP00000377848:A70S;ENSP00000439618:A116S;ENSP00000359894:A166S;ENSP00000359890:A166S;ENSP00000359886:A116S;ENSP00000359876:A166S;ENSP00000359881:A70S;ENSP00000406014:A70S;ENSP00000402128:A70S	ENSP00000359876:A166S	A	-	1	0	MBNL3	131353890	0.983000	0.35010	0.936000	0.37596	0.345000	0.29048	0.089000	0.15002	1.085000	0.41206	0.538000	0.68166	GCT		PASS	0.423	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		6	45	6	45	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135958741	135958741	+	Silent	SNP	T	T	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:135958741T>A	ENST00000320676.7	-	5	616	c.462A>T	c.(460-462)ccA>ccT	p.P154P	RBMX_ENST00000570135.1_Silent_p.P19P|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Silent_p.P154P|RBMX_ENST00000565438.1_Silent_p.P26P|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000431446.3_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	154					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P154P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACTTCTTGGTGGTGGTCCTC	0.448																																						uc004fae.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(460-462)CCA>CCT		RNA binding motif protein, X-linked isoform 1							114.0	107.0	109.0					X																	135958741		2203	4300	6503	SO:0001819	synonymous_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135958741T>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.462A>T	X.37:g.135958741T>A						RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Silent_p.P154P|RBMX_uc011mwg.1_Silent_p.P115P|RBMX_uc004faf.1_Silent_p.P15P|RBMX_uc010nsf.1_Silent_p.P115P|RBMX_uc004fag.1_Silent_p.P26P	p.P154P	NM_002139	NP_002130	P38159	HNRPG_HUMAN			5	672	-	Acute lymphoblastic leukemia(192;0.000127)		154					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	c.462A>T	CCDS14661.1																																																																																				PASS	0.448	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		32	116	32	116	---	---	---	---
MIR506	574511	broad.mit.edu	37	X	146312250	146312250	+	RNA	SNP	G	G	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:146312250G>T	ENST00000384998.1	-	0	111				MIR507_ENST00000385234.1_RNA	NR_030233.1				microRNA 506																		CACCACAAATGTTGTCCATGT	0.428																																						hsa-mir-506|MI0003193																			0					0															192.0	150.0	162.0					X																	146312250		1568	3582	5150			574511							g.chrX:146312250G>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000207731	ENSG00000207731		"""ncRNAs / Micro RNAs"""	32143	non-coding RNA	RNA, micro		300877		MIRN506			Standard	NR_030233		Approved	hsa-mir-506	uc022cfu.1				X.37:g.146312250G>T																-									RNA	SNP	ENST00000384998.1	37	c.112G>T																																																																																					PASS	0.428	MIR506-201	KNOWN	basic	miRNA	miRNA		NR_030233		12	43	12	43	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092423	151092423	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:151092423C>A	ENST00000360243.2	+	3	554	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	MAGEA4_ENST00000370335.1_Missense_Mutation_p.P96Q|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P96Q|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P96Q|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P96Q|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P96Q|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P96Q	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	96				GP -> EA (in Ref. 3; BAA06841). {ECO:0000305}.				p.P96Q(2)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGAGGGGCCAAGCACCTCG	0.567																																						uc004fez.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(286-288)CCA>CAA		melanoma antigen family A, 4							75.0	68.0	70.0					X																	151092423		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092423C>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.287C>A	X.37:g.151092423C>A	ENSP00000353379:p.Pro96Gln					MAGEA4_uc004ffa.2_Missense_Mutation_p.P96Q|MAGEA4_uc004ffb.2_Missense_Mutation_p.P96Q|MAGEA4_uc004ffc.2_Missense_Mutation_p.P96Q|MAGEA4_uc004ffd.2_Missense_Mutation_p.P96Q	p.P96Q	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	443	+	Acute lymphoblastic leukemia(192;6.56e-05)		96	GP -> EA (in Ref. 3; BAA06841).				Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.287C>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.799036	0.31777	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47	2.43	0.614	0.17603	Melanoma associated antigen, MAGE, N-terminal (1);	0.869566	0.10301	N	0.691176	T	0.21921	0.0528	M	0.82630	2.6	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.08411	-1.0723	10	0.87932	D	0	.	4.5447	0.12074	0.0:0.6796:0.0:0.3204	.	96	P43358	MAGA4_HUMAN	Q	96	ENSP00000387777:P96Q;ENSP00000276344:P96Q;ENSP00000391904:P96Q;ENSP00000377498:P96Q;ENSP00000394149:P96Q;ENSP00000359362:P96Q;ENSP00000402624:P96Q;ENSP00000377497:P96Q;ENSP00000359365:P96Q;ENSP00000394073:P96Q;ENSP00000400900:P96Q;ENSP00000402186:P96Q;ENSP00000359360:P96Q;ENSP00000353379:P96Q;ENSP00000390096:P96Q	ENSP00000276344:P96Q	P	+	2	0	MAGEA4	150843079	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.912000	0.04046	0.042000	0.15717	0.513000	0.50165	CCA		PASS	0.567	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		18	68	18	68	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151820229	151820229	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:151820229T>C	ENST00000370306.2	+	8	1162	c.1142T>C	c.(1141-1143)gTg>gCg	p.V381A		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	381					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.V381A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGCAAGTGGTGGTAGGAAAC	0.517																																						uc004ffp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1141-1143)GTG>GCG		gamma-aminobutyric acid (GABA) receptor, theta							79.0	69.0	72.0					X																	151820229		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151820229T>C	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1142T>C	X.37:g.151820229T>C	ENSP00000359329:p.Val381Ala						p.V381A	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			8	1162	+	Acute lymphoblastic leukemia(192;6.56e-05)		381					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1142T>C	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	6.907	0.536920	0.13188	.	.	ENSG00000147402	ENST00000370306	D	0.85258	-1.96	4.96	-5.41	0.02648	Neurotransmitter-gated ion-channel transmembrane domain (2);	38.667500	0.00166	N	0.000000	T	0.71643	0.3364	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.61715	-0.7006	10	0.06625	T	0.88	.	2.7609	0.05306	0.122:0.0861:0.2908:0.5011	.	381	Q9UN88	GBRT_HUMAN	A	381	ENSP00000359329:V381A	ENSP00000359329:V381A	V	+	2	0	GABRQ	151570885	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.066000	0.11598	-0.764000	0.04651	0.441000	0.28932	GTG		PASS	0.517	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		27	41	27	41	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152845732	152845732	+	Silent	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:152845732C>A	ENST00000349466.2	+	21	3965	c.3639C>A	c.(3637-3639)ctC>ctA	p.L1213L	ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000263519.4_Silent_p.L1213L|ATP2B3_ENST00000370181.2_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1213					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.L1213L(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCCCGCTCCACAGCGTGG	0.562																																						uc004fht.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(3637-3639)CTC>CTA		plasma membrane calcium ATPase 3 isoform 3b							89.0	78.0	82.0					X																	152845732		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845732C>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3639C>A	X.37:g.152845732C>A						ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.L350L|ATP2B3_uc004fhu.1_Silent_p.L165L	p.L1213L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			20	3765	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1213			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.3639C>A	CCDS35440.1																																																																																				PASS	0.562	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		12	21	12	21	---	---	---	---
OPN1LW	5956	broad.mit.edu	37	X	153418503	153418503	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:153418503A>C	ENST00000369951.4	+	3	560	c.500A>C	c.(499-501)aAg>aCg	p.K167T	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	167					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.K167T(2)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGATGCCAAGCTGGCCATC	0.577																																						uc004fjz.3																			2	Substitution - Missense(2)		lung(2)		0						c.(499-501)AAG>ACG		opsin 1 (cone pigments), long-wave-sensitive							232.0	148.0	178.0					X																	153418503		2175	3994	6169	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153418503A>C	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.500A>C	X.37:g.153418503A>C	ENSP00000358967:p.Lys167Thr						p.K167T	NM_020061	NP_064445	P04000	OPSR_HUMAN			3	533	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		167			Cytoplasmic.			Missense_Mutation	SNP	ENST00000369951.4	37	c.500A>C	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374299	0.61735	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.39997	1.05;1.05	4.57	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.58969	1.84	0.51012	D	0.999902	P	0.49862	0.929	P	0.48524	0.58	T	0.44112	-0.9349	10	0.56958	D	0.05	.	9.1656	0.37050	0.7093:0.2907:0.0:0.0	.	167	P04000	OPSR_HUMAN	T	167;30	ENSP00000358967:K167T;ENSP00000402493:K30T	ENSP00000358967:K167T	K	+	2	0	OPN1LW	153071697	0.010000	0.17322	0.988000	0.46212	0.796000	0.44982	0.926000	0.28804	1.628000	0.50416	0.352000	0.21897	AAG		PASS	0.577	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		7	28	7	28	---	---	---	---
F8	2157	broad.mit.edu	37	X	154182312	154182312	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chrX:154182312C>A	ENST00000360256.4	-	12	1958	c.1758G>T	c.(1756-1758)atG>atT	p.M586I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	586	F5/8 type A 2.|Plastocyanin-like 4.		M -> V (in HEMA; mild). {ECO:0000269|PubMed:11298607}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.M586I(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTGTCTGACATTATCTGTT	0.418																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1756-1758)ATG>ATT		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						135.0	124.0	128.0					X																	154182312		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154182312C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1758G>T	X.37:g.154182312C>A	ENSP00000353393:p.Met586Ile						p.M586I	NM_000132	NP_000123	P00451	FA8_HUMAN			12	1929	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		586		M -> V (in HEMA; mild).	F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1758G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	16.92	3.256446	0.59321	.	.	ENSG00000185010	ENST00000360256	D	0.99032	-5.35	5.18	5.18	0.71444	.	0.127504	0.64402	D	0.000001	D	0.98604	0.9533	L	0.46614	1.455	0.29961	N	0.819407	D	0.69078	0.997	D	0.73380	0.98	D	0.96501	0.9371	10	0.33141	T	0.24	-22.9166	11.7083	0.51610	0.1766:0.8234:0.0:0.0	.	586	P00451	FA8_HUMAN	I	586	ENSP00000353393:M586I	ENSP00000353393:M586I	M	-	3	0	F8	153835506	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.174000	0.42482	2.286000	0.76751	0.509000	0.49947	ATG		PASS	0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			35	91	35	91	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974695	21974696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-22-5492-01A-01D-1632-08	TCGA-22-5492-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	abc94013-71f5-4ac6-88a4-01b4ef9f9d2f	d888d563-4af8-4487-9e42-7a4595d962df	g.chr9:21974695_21974696insT	ENST00000304494.5	-	1	401_402	c.131_132insA	c.(130-132)tacfs	p.Y44fs	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.Y44fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.G45del(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCGG	0.683		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1348	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(3)|Deletion - In frame(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(1112)|p.?(25)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.G45del(1)|p.Y44S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(151)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CI056876|CI075603|CM980323	CDKN2A	I|M		c.(130-132)TACfs		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974695_21974696insT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.132dupA	9.37:g.21974696_21974696dupT	ENSP00000307101:p.Tyr44fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Ins_p.Y44fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.Y44fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	343_344	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	44			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.131_132insA	CCDS6510.1																																																																																					0.683	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		68	62	68	62	---	---	---	---
