#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_ACHILLES_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_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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:6173020G>A	ENST00000262450.3	-	34	5050	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CHD5_ENST00000378021.1_Silent_p.L508L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L1651L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCAGCTCCAGCTTGTCCAGG	0.577																																							uc001amb.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4951-4953)CTG>TTG		chromodomain helicase DNA binding protein 5							126.0	111.0	116.0					1																	6173020		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6173020G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4951C>T	1.37:g.6173020G>A						CHD5_uc001alz.1_Silent_p.L508L|CHD5_uc001ama.1_RNA	p.L1651L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	34	5051	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1651					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.4951C>T	CCDS57.1																																																																																				0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		3	31	0	0	0	0.004672	0	3	31				
CAMTA1	23261	broad.mit.edu	37	1	7700548	7700548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:7700548A>G	ENST00000303635.7	+	7	806	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N200S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N200S(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)		TGCTCCATCAACACCGACAAG	0.627			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(598-600)AAC>AGC		calmodulin-binding transcription activator 1							147.0	120.0	129.0					1																	7700548		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700548A>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.599A>G	1.37:g.7700548A>G	ENSP00000306522:p.Asn200Ser						p.N200S	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	806	+	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)	200					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.599A>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918626	0.73098	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21734	1.99;1.99	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	N	0.11560	0.145	0.54753	D	0.999984	D	0.63880	0.993	D	0.64877	0.93	T	0.11767	-1.0574	10	0.11485	T	0.65	-32.8428	15.3622	0.74487	1.0:0.0:0.0:0.0	.	200	Q9Y6Y1	CMTA1_HUMAN	S	200	ENSP00000306522:N200S;ENSP00000402561:N200S	ENSP00000306522:N200S	N	+	2	0	CAMTA1	7623135	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.265000	0.78442	2.028000	0.59812	0.379000	0.24179	AAC		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		5	95	0	0	0	0.001168	0	5	95				
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:11574545G>A	ENST00000294484.6	+	4	1553	c.1415G>A	c.(1414-1416)tGc>tAc	p.C472Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C472Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.C689Y(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCAGCAGCTGCATTGCTGCC	0.582																																							uc001ash.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(1414-1416)TGC>TAC		patched domain containing 2							122.0	122.0	122.0					1																	11574545		2098	4217	6315	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11574545G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1415G>A	1.37:g.11574545G>A	ENSP00000294484:p.Cys472Tyr					PTCHD2_uc001asi.1_Missense_Mutation_p.C472Y	p.C472Y	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	4	1553	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	472			SSD.|Helical; (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1415G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397751	0.83120	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85556	-2.0;-2.0	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89430	0.3716	10	0.44086	T	0.13	-42.458	17.7404	0.88405	0.0:0.0:1.0:0.0	.	472	Q9P2K9	PTHD2_HUMAN	Y	472	ENSP00000294484:C472Y;ENSP00000374226:C472Y	ENSP00000294484:C472Y	C	+	2	0	PTCHD2	11497132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.345000	0.97053	2.490000	0.84030	0.655000	0.94253	TGC		0.582	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		4	81	0	0	0	0.009096	0	4	81				
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:12157231G>T	ENST00000263932.2	+	3	447	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	75					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.L75L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	ACTACTACCTGGATGAGGCCG	0.577																																							uc001atq.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(223-225)CTG>CTT		tumor necrosis factor receptor superfamily,							115.0	102.0	106.0					1																	12157231		2203	4300	6503	SO:0001819	synonymous_variant	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12157231G>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.225G>T	1.37:g.12157231G>T						TNFRSF8_uc010obc.1_5'UTR	p.L75L	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	447	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	75			Extracellular (Potential).|TNFR-Cys 2.		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	c.225G>T	CCDS144.1																																																																																				0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			46	111	1	0	6.23363e-37	0.00361	1.02471e-36	46	111				
PRAMEF18	391003	broad.mit.edu	37	1	13474988	13474988	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:13474988T>C	ENST00000376126.2	-	3	1140	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	381					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T381A(2)		lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCAGAAAGTGGTGAGGTTG	0.562																																							uc009vnu.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1141-1143)ACT>GCT		PRAME family member 18							58.0	66.0	63.0					1																	13474988		2146	4218	6364	SO:0001583	missense	391003							g.chr1:13474988T>C			1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1141A>G	1.37:g.13474988T>C	ENSP00000365294:p.Thr381Ala						p.T381A	NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1188	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	381						Missense_Mutation	SNP	ENST00000376126.2	37	c.1141A>G	CCDS41258.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586407	0.28268	.	.	ENSG00000204491	ENST00000376126	T	0.09538	2.97	1.66	-1.16	0.09678	.	0.587058	0.17444	N	0.174029	T	0.10680	0.0261	M	0.62266	1.93	0.09310	N	1	P	0.44429	0.835	P	0.45856	0.495	T	0.14868	-1.0457	10	0.26408	T	0.33	.	1.5229	0.02519	0.3066:0.2118:0.0:0.4816	.	381	Q5VWM3	PRA18_HUMAN	A	381	ENSP00000365294:T381A	ENSP00000365294:T381A	T	-	1	0	PRAMEF18	13347575	0.000000	0.05858	0.000000	0.03702	0.455000	0.32408	-0.847000	0.04331	-0.325000	0.08577	0.164000	0.16699	ACT		0.562	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		30	280	0	0	0	0.00361	0	30	280				
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074086	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:21074085_21074086CC>AA	ENST00000312239.5	-	11	1343_1344	c.1204_1205GG>TT	c.(1204-1206)GGg>TTg	p.G402L	HP1BP3_ENST00000375003.2_Missense_Mutation_p.G250L	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402	H15 3. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GAACCCTTTCCCAGAGATCTGT	0.371																																							uc001bdw.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1204-1206)GGG>TTG		HP1-BP74																																				SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21074085_21074086CC>AA	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1204_1205delinsAA	1.37:g.21074085_21074086delinsAA	ENSP00000312625:p.Gly402Leu					HP1BP3_uc001bdv.1_Missense_Mutation_p.G364L|HP1BP3_uc010odh.1_Missense_Mutation_p.G364L|HP1BP3_uc001bdy.1_Missense_Mutation_p.G402L|HP1BP3_uc010odf.1_Missense_Mutation_p.G61L|HP1BP3_uc010odg.1_Missense_Mutation_p.G250L	p.G402L	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	11	1344_1345	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	402			H15 3.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	DNP	ENST00000312239.5	37	c.1204_1205GG>TT	CCDS30621.1																																																																																				0.371	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		17	79	0	0	0	0.004672	0	17	79				
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:22817990A>G	ENST00000375647.4	+	3	1002	c.795A>G	c.(793-795)ctA>ctG	p.L265L	ZBTB40_ENST00000404138.1_Silent_p.L265L|ZBTB40_ENST00000374651.4_Silent_p.L265L	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					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.L265L(2)		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)		TAAAAAAACTAGAAATGTGTT	0.378																																							uc001bft.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(793-795)CTA>CTG		zinc finger and BTB domain containing 40							77.0	83.0	81.0					1																	22817990		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22817990A>G	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.795A>G	1.37:g.22817990A>G						ZBTB40_uc001bfu.2_Silent_p.L265L|ZBTB40_uc009vqi.1_Silent_p.L265L	p.L265L	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)	4	1306	+		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)	265					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.795A>G	CCDS224.1																																																																																				0.378	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		69	182	0	0	0	0.00361	0	69	182				
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:22986096C>A	ENST00000314933.6	+	2	279	c.147C>A	c.(145-147)ccC>ccA	p.P49P	C1QB_ENST00000509305.1_Silent_p.P47P	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	Collagen-like 1.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.P49P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTGGCCCCGATGGCCAAC	0.602																																							uc001bgd.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(145-147)CCC>CCA		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						30.0	32.0	31.0					1																	22986096		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986096C>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.147C>A	1.37:g.22986096C>A							p.P49P	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	279	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	49			Collagen-like 1.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.147C>A	CCDS228.1																																																																																				0.602	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		26	60	1	0	1.06801e-11	0.009535	1.34122e-11	26	60				
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24388533G>A	ENST00000374434.3	-	33	3999	c.3837C>T	c.(3835-3837)caC>caT	p.H1279H	MYOM3_ENST00000330966.7_Silent_p.H1282H|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Silent_p.H172H	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1279						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.H1279H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTCCAGGATGTGAAGCCAGA	0.532																																							uc001bin.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(3835-3837)CAC>CAT		myomesin family, member 3							240.0	239.0	239.0					1																	24388533		1977	4150	6127	SO:0001819	synonymous_variant	127294							g.chr1:24388533G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3837C>T	1.37:g.24388533G>A						MYOM3_uc001bil.3_Silent_p.H172H|MYOM3_uc001bim.3_Silent_p.H936H	p.H1279H	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	33	4000	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1279					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.3837C>T	CCDS41281.1																																																																																				0.532	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		51	406	0	0	0	0.00361	0	51	406				
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24421441A>T	ENST00000374434.3	-	9	992	c.830T>A	c.(829-831)cTg>cAg	p.L277Q	MYOM3_ENST00000329601.7_Missense_Mutation_p.L277Q|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.L278Q	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	277	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.L277Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTGGCTTCAGCACCGAGGT	0.537																																							uc001bin.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(829-831)CTG>CAG		myomesin family, member 3							55.0	56.0	56.0					1																	24421441		1946	4138	6084	SO:0001583	missense	127294							g.chr1:24421441A>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.830T>A	1.37:g.24421441A>T	ENSP00000363557:p.Leu277Gln					MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.L277Q|MYOM3_uc001bip.1_5'UTR	p.L277Q	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	9	993	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	277			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.830T>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978870	0.53720	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.50548	0.74;0.74;0.74	5.18	5.18	0.71444	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.063541	0.64402	D	0.000005	T	0.66228	0.2768	M	0.71581	2.175	0.39997	D	0.975115	D;D	0.89917	0.997;1.0	D;D	0.79108	0.964;0.992	T	0.70806	-0.4772	10	0.66056	D	0.02	.	12.5605	0.56277	1.0:0.0:0.0:0.0	.	277;277	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	Q	277;278;277	ENSP00000363557:L277Q;ENSP00000332670:L278Q;ENSP00000328415:L277Q	ENSP00000328415:L277Q	L	-	2	0	MYOM3	24294028	1.000000	0.71417	0.998000	0.56505	0.289000	0.27227	5.190000	0.65104	1.949000	0.56562	0.455000	0.32223	CTG		0.537	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		32	45	0	0	0	0.002522	0	32	45				
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	G	T	rs185614655		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24785406G>T	ENST00000374399.4	+	9	1170	c.802G>T	c.(802-804)Gac>Tac	p.D268Y	NIPAL3_ENST00000339255.2_Missense_Mutation_p.D268Y|NIPAL3_ENST00000003912.3_Missense_Mutation_p.D186Y	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.D268Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						ACAGATGTACGACTCCTCTTT	0.468																																							uc001bjh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(802-804)GAC>TAC		NIPA-like domain containing 3							216.0	178.0	191.0					1																	24785406		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24785406G>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.802G>T	1.37:g.24785406G>T	ENSP00000363520:p.Asp268Tyr					NIPAL3_uc001bjg.2_Missense_Mutation_p.D268Y|NIPAL3_uc009vrc.2_Missense_Mutation_p.D186Y|NIPAL3_uc001bji.2_Missense_Mutation_p.R76L	p.D268Y	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			9	1209	+			268					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.802G>T	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838201	0.91117	.	.	ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255	D;D;D	0.90324	-2.65;-1.53;-2.65	5.75	5.75	0.90469	.	0.127797	0.64402	D	0.000001	D	0.95962	0.8685	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96116	0.9081	10	0.87932	D	0	-40.6536	18.9169	0.92508	0.0:0.0:1.0:0.0	.	268;268	Q6P499;A6NN97	NPAL3_HUMAN;.	Y	268;186;268	ENSP00000363520:D268Y;ENSP00000003912:D186Y;ENSP00000343549:D268Y	ENSP00000003912:D186Y	D	+	1	0	NIPAL3	24657993	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	8.857000	0.92250	2.717000	0.92951	0.563000	0.77884	GAC		0.468	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		59	233	1	0	6.88731e-43	0.00361	1.16954e-42	59	233				
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:26688465G>C	ENST00000436292.1	-	7	1372	c.1252C>G	c.(1252-1254)Cgc>Ggc	p.R418G	ZNF683_ENST00000374204.1_Missense_Mutation_p.R398G|ZNF683_ENST00000349618.3_Missense_Mutation_p.R398G|ZNF683_ENST00000403843.1_Missense_Mutation_p.R418G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					natural killer cell differentiation (GO:0001779)|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.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637																																							uc001bmg.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1252-1254)CGC>GGC		zinc finger protein 683							64.0	61.0	62.0					1																	26688465		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688465G>C	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1252C>G	1.37:g.26688465G>C	ENSP00000388792:p.Arg418Gly					ZNF683_uc001bmh.1_Missense_Mutation_p.R398G|ZNF683_uc009vsj.1_Missense_Mutation_p.R398G	p.R418G	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1370	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	418			C2H2-type 3; degenerate.		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1252C>G		.	.	.	.	.	.	.	.	.	.	G	22.8	4.331940	0.81801	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.82	3.91	0.45181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41500	D	0.000866	T	0.47284	0.1437	M	0.73962	2.25	0.52501	D	0.999954	D;D	0.76494	0.998;0.999	D;D	0.67231	0.917;0.95	T	0.50482	-0.8823	10	0.87932	D	0	-17.0901	11.1153	0.48256	0.0902:0.0:0.9098:0.0	.	398;418	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	G	418;418;398;398	ENSP00000384782:R418G;ENSP00000388792:R418G;ENSP00000363320:R398G;ENSP00000344095:R398G	ENSP00000344095:R398G	R	-	1	0	ZNF683	26561052	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.344000	0.59354	1.254000	0.44035	0.561000	0.74099	CGC		0.637	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		10	33	0	0	0	0.001855	0	10	33				
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:28476668C>A	ENST00000373857.3	-	2	1499	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PTAFR_ENST00000305392.3_Missense_Mutation_p.D289Y|PTAFR_ENST00000539896.1_Missense_Mutation_p.D289Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537																																							uc001bpl.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(865-867)GAC>TAC		platelet-activating factor receptor							127.0	114.0	118.0					1																	28476668		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28476668C>A	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.865G>T	1.37:g.28476668C>A	ENSP00000362965:p.Asp289Tyr					PTAFR_uc001bpm.3_Missense_Mutation_p.D289Y|PTAFR_uc009vte.2_Missense_Mutation_p.D289Y	p.D289Y	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	992	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	289			Helical; Name=7; (Potential).		A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.865G>T	CCDS318.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095982	0.76870	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.74209	-0.82;-0.82;-0.82	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91682	0.5359	10	0.87932	D	0	.	19.1385	0.93438	0.0:1.0:0.0:0.0	.	289	P25105	PTAFR_HUMAN	Y	289	ENSP00000362965:D289Y;ENSP00000442658:D289Y;ENSP00000301974:D289Y	ENSP00000301974:D289Y	D	-	1	0	PTAFR	28349255	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.818000	0.86416	2.525000	0.85131	0.563000	0.77884	GAC		0.537	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		15	110	1	0	1.99824e-07	0.00499	2.31307e-07	15	110				
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	C	T	rs148243859	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:29041146C>T	ENST00000294409.2	+	10	1673	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L	GMEB1_ENST00000361872.4_Missense_Mutation_p.P518L|GMEB1_ENST00000373816.1_Missense_Mutation_p.P518L|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	528					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P518L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGCCCCGGACCCAGAA	0.532																																							uc001bra.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1582-1584)CCG>CTG		glucocorticoid modulatory element binding		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	59.0	56.0	57.0		1583,1553	5.8	1.0	1	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GMEB1	NM_006582.3,NM_024482.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	528/574,518/564	29041146	1,13005	2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29041146C>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1583C>T	1.37:g.29041146C>T	ENSP00000294409:p.Pro528Leu					GMEB1_uc001bqz.2_Missense_Mutation_p.P518L|GMEB1_uc001brb.2_Missense_Mutation_p.P518L	p.P528L	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	10	1721	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	528					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.1583C>T	CCDS327.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740838	0.69304	0.0	1.16E-4	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.56444	0.46;0.46;0.46	5.75	5.75	0.90469	.	0.119028	0.56097	D	0.000022	T	0.66446	0.2790	L	0.40543	1.245	0.43054	D	0.994663	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.68119	-0.5493	10	0.87932	D	0	-9.2734	18.7148	0.91671	0.0:1.0:0.0:0.0	.	528;518	Q9Y692;B1AT47	GMEB1_HUMAN;.	L	518;518;528	ENSP00000362922:P518L;ENSP00000355186:P518L;ENSP00000294409:P528L	ENSP00000294409:P528L	P	+	2	0	GMEB1	28913733	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	5.871000	0.69628	2.716000	0.92895	0.655000	0.94253	CCG		0.532	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		9	112	0	0	0	0.008291	0	9	112				
YTHDF2	51441	broad.mit.edu	37	1	29070324	29070324	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:29070324C>G	ENST00000373812.3	+	4	1904	c.1542C>G	c.(1540-1542)cgC>cgG	p.R514R	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Silent_p.R464R|YTHDF2_ENST00000542507.1_Silent_p.R514R	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	514	Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.R514R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACACATTCGCCTAGAGAACA	0.478																																							uc001brc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1540-1542)CGC>CGG		high glucose-regulated protein 8							67.0	66.0	66.0					1																	29070324		1925	4134	6059	SO:0001819	synonymous_variant	51441				humoral immune response			g.chr1:29070324C>G	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1542C>G	1.37:g.29070324C>G						YTHDF2_uc001brd.2_Silent_p.R511R|YTHDF2_uc010ofx.1_Silent_p.R464R|YTHDF2_uc001bre.2_Silent_p.R464R	p.R514R	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	2039	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	514			YTH.		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Silent	SNP	ENST00000373812.3	37	c.1542C>G	CCDS41296.1																																																																																				0.478	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		10	95	0	0	0	0.000978	0	10	95				
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:34006151C>A	ENST00000373381.4	-	60	9781	c.9605G>T	c.(9604-9606)tGg>tTg	p.W3202L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W3058L(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCGGTCCAGGACCCATT	0.577																																							uc001bxn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|pancreas(1)	12						c.(9172-9174)TGG>TTG		CUB and Sushi multiple domains 2							111.0	93.0	99.0					1																	34006151		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006151C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9605G>T	1.37:g.34006151C>A	ENSP00000362479:p.Trp3202Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.W3202L	p.W3058L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			59	9202	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3058			Sushi 23.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9173G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.096296	0.94197	.	.	ENSG00000121904	ENST00000373381	T	0.79653	-1.29	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.95056	0.8399	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97232	0.9885	10	0.87932	D	0	.	18.7573	0.91837	0.0:1.0:0.0:0.0	.	3058;3202	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	3202	ENSP00000362479:W3202L	ENSP00000241312:W3058L	W	-	2	0	CSMD2	33778738	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.796000	0.85898	2.689000	0.91719	0.462000	0.41574	TGG		0.577	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		13	161	1	0	1.49906e-05	0.00245	1.6725e-05	13	161				
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:34209016C>A	ENST00000373381.4	-	14	2214	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A640S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCTCGGCGGTGGCCCCA	0.617																																							uc001bxn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|pancreas(1)	12						c.(1918-1920)GCC>TCC		CUB and Sushi multiple domains 2							69.0	69.0	69.0					1																	34209016		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209016C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2038G>T	1.37:g.34209016C>A	ENSP00000362479:p.Ala680Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.A680S	p.A640S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			14	1947	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	640			Extracellular (Potential).|CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1918G>T		.	.	.	.	.	.	.	.	.	.	C	4.439	0.081230	0.08533	.	.	ENSG00000121904	ENST00000373381	T	0.17054	2.3	5.55	4.58	0.56647	CUB (5);	0.059196	0.64402	D	0.000002	T	0.08223	0.0205	N	0.04508	-0.205	0.80722	D	1	B;B	0.24920	0.114;0.042	B;B	0.27170	0.074;0.077	T	0.27365	-1.0076	10	0.10636	T	0.68	.	14.0437	0.64693	0.0:0.7303:0.2697:0.0	.	640;680	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	680	ENSP00000362479:A680S	ENSP00000241312:A640S	A	-	1	0	CSMD2	33981603	1.000000	0.71417	0.749000	0.31150	0.548000	0.35241	2.957000	0.49137	2.771000	0.95319	0.561000	0.74099	GCC		0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		13	80	1	0	4.14922e-12	0.004007	5.27816e-12	13	80				
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:35847281G>T	ENST00000314607.6	+	9	1571	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	ZMYM4_ENST00000373297.2_Silent_p.S497S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	497					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S497S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTGGGTCGGGACAATGCC	0.433																																							uc001byt.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1489-1491)TCG>TCT		zinc finger protein 262							209.0	185.0	193.0					1																	35847281		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35847281G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1491G>T	1.37:g.35847281G>T						ZMYM4_uc009vuu.2_Silent_p.S465S|ZMYM4_uc001byu.2_Silent_p.S173S|ZMYM4_uc009vuv.2_Silent_p.S236S	p.S497S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			9	1571	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	497			MYM-type 3.		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.1491G>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	6.674	0.492882	0.12702	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.31	-0.103	0.13609	.	.	.	.	.	T	0.52158	0.1717	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40813	-0.9543	4	.	.	.	-11.9927	6.8036	0.23764	0.4464:0.0:0.237:0.3167	.	.	.	.	W	246	.	.	G	+	1	0	ZMYM4	35619868	0.999000	0.42202	0.999000	0.59377	0.791000	0.44710	0.438000	0.21559	0.018000	0.15052	-1.482000	0.00985	GGG		0.433	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		35	317	1	0	4.14481e-20	0.00623	5.93686e-20	35	317				
AGO3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:36437711G>T	ENST00000373191.4	+	4	748	c.399G>T	c.(397-399)tgG>tgT	p.W133C	AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000324350.5_Missense_Mutation_p.W133C|AGO3_ENST00000397828.2_Missense_Mutation_p.W133C	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	133					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.W133C(2)									GGGTGAGTTGGCACCTACTGC	0.483																																						Colon(144;60 2363 31043 40539)	uc001bzp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(397-399)TGG>TGT		eukaryotic translation initiation factor 2C, 3							176.0	145.0	156.0					1																	36437711		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36437711G>T	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.399G>T	1.37:g.36437711G>T	ENSP00000362287:p.Trp133Cys					EIF2C3_uc001bzn.1_Missense_Mutation_p.W133C|EIF2C3_uc001bzo.2_RNA|EIF2C3_uc001bzq.2_5'UTR	p.W133C	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			4	655	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	133					B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.399G>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480683	0.84747	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.09350	2.99	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	L	0.54323	1.7	0.80722	D	1	P;D	0.52996	0.532;0.957	P;B	0.45913	0.497;0.214	T	0.00403	-1.1761	10	0.87932	D	0	-20.4509	19.6201	0.95651	0.0:0.0:1.0:0.0	.	133;133	Q9H9G7;Q5TA56	AGO3_HUMAN;.	C	133	ENSP00000362287:W133C	ENSP00000317425:W133C	W	+	3	0	EIF2C3	36210298	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.918000	0.87506	2.695000	0.91970	0.563000	0.77884	TGG		0.483	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		30	184	1	0	9.78485e-24	0.002836	1.45962e-23	30	184				
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:38005774C>A	ENST00000296215.6	-	3	982	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	304	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A304S(2)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGAAAGACCGCATGCTGCTTT	0.428																																							uc001cbi.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)	2						c.(910-912)GCG>TCG		Smad nuclear interacting protein							130.0	123.0	126.0					1																	38005774		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38005774C>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.910G>T	1.37:g.38005774C>A	ENSP00000296215:p.Ala304Ser					SNIP1_uc010oid.1_RNA	p.A304S	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			3	983	-		Myeloproliferative disorder(586;0.0393)	304			FHA.		Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.910G>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235076	0.95207	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.56776	0.44	6.07	6.07	0.98685	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83639	0.0149	10	0.66056	D	0.02	-24.9547	20.6439	0.99570	0.0:1.0:0.0:0.0	.	304	Q8TAD8	SNIP1_HUMAN	S	304;288	ENSP00000296215:A304S	ENSP00000296215:A304S	A	-	1	0	SNIP1	37778361	1.000000	0.71417	0.932000	0.37286	0.961000	0.63080	7.440000	0.80464	2.884000	0.98904	0.655000	0.94253	GCG		0.428	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		61	522	1	0	1.15098e-32	0.00361	1.83612e-32	61	522				
CFAP57	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43638557C>A	ENST00000372492.4	+	2	457	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_5'Flank|EBNA1BP2_ENST00000236051.2_5'Flank|WDR65_ENST00000528956.1_Missense_Mutation_p.Q45K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		45								p.Q45K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAATGTGGATCAGAAATGGCA	0.383																																							uc001cip.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(133-135)CAG>AAG		WD repeat domain 65							99.0	95.0	96.0					1																	43638557		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43638557C>A																												ENST00000372492.4:c.133C>A	1.37:g.43638557C>A	ENSP00000361570:p.Gln45Lys					EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.I3I|WDR65_uc001ciq.1_Missense_Mutation_p.Q45K|EBNA1BP2_uc001cim.2_5'Flank|EBNA1BP2_uc001cin.2_5'Flank|EBNA1BP2_uc010ojx.1_5'Flank|EBNA1BP2_uc010ojy.1_5'Flank	p.Q45K	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN			2	254	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	45					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.133C>A		.	.	.	.	.	.	.	.	.	.	C	29.4	5.001449	0.93227	.	.	ENSG00000243710	ENST00000372492;ENST00000528956;ENST00000529956	T;T;T	0.35973	5.07;1.28;5.07	5.27	5.27	0.74061	.	0.062472	0.64402	D	0.000003	T	0.47021	0.1423	M	0.67625	2.065	0.54753	D	0.999984	P	0.50528	0.936	P	0.52189	0.692	T	0.41716	-0.9493	10	0.06891	T	0.86	.	18.4759	0.90792	0.0:1.0:0.0:0.0	.	45	Q96MR6-2	.	K	45	ENSP00000361570:Q45K;ENSP00000435310:Q45K;ENSP00000434133:Q45K	ENSP00000361570:Q45K	Q	+	1	0	WDR65	43411144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.263000	0.72521	2.453000	0.82957	0.655000	0.94253	CAG		0.383	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			53	176	1	0	2.19297e-23	0.00361	3.26676e-23	53	176				
SZT2	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43909130T>C	ENST00000562955.1	+	60	8436	c.8436T>C	c.(8434-8436)tcT>tcC	p.S2812S	SZT2_ENST00000372442.1_Silent_p.S1970S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2869					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.S1970S(4)|p.S2812S(2)		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						CAGAGACCTCTGGACCCCCTG	0.612																																							uc001cjk.1		NA																	6	Substitution - coding silent(6)		lung(6)		0						c.(5908-5910)TCT>TCC		hypothetical protein LOC23334							35.0	37.0	36.0					1																	43909130		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43909130T>C	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.8436T>C	1.37:g.43909130T>C						KIAA0467_uc001cjl.1_5'Flank	p.S1970S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			46	6372	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2869					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.5910T>C	CCDS30694.2																																																																																				0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		7	24	0	0	0	0.00308	0	7	24				
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	G	A	rs70937045	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44084819G>A	ENST00000359947.4	+	27	4932	c.4592G>A	c.(4591-4593)cGa>cAa	p.R1531Q	PTPRF_ENST00000372414.3_Missense_Mutation_p.R1531Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1522Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R890Q|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1521Q(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTCCTACGACGGGTCAAG	0.627													G|||	9	0.00179712	0.0	0.0	5008	,	,		16260	0.0079		0.0	False		,,,				2504	0.001						uc001cjr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(4591-4593)CGA>CAA		protein tyrosine phosphatase, receptor type, F							50.0	45.0	47.0					1																	44084819		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44084819G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4592G>A	1.37:g.44084819G>A	ENSP00000353030:p.Arg1531Gln					PTPRF_uc001cjs.2_Missense_Mutation_p.R1522Q|PTPRF_uc001cju.2_Missense_Mutation_p.R920Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R1091Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R1002Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R757Q	p.R1531Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN			27	4932	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1531			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4592G>A	CCDS489.2	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	20.8|20.8	4.056003|4.056003	0.76074|0.76074	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|D;D;D;D;D;D	.|0.84070	.|-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.000000	.|0.31415	.|N	.|0.007687	D|D	0.88415|0.88415	0.6430|0.6430	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D	.|0.89917	.|1.0;1.0;1.0;0.948;1.0	.|D;D;D;B;D	.|0.87578	.|0.928;0.987;0.987;0.34;0.998	D|D	0.89823|0.89823	0.3990|0.3990	5|10	.|0.87932	.|D	.|0	.|.	19.6098|19.6098	0.95600|0.95600	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1176;890;1108;1522;1531	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	N|Q	1177|1531;1522;1531;1522;890;603	.|ENSP00000353030:R1531Q;ENSP00000398822:R1522Q;ENSP00000361491:R1531Q;ENSP00000361490:R1522Q;ENSP00000387885:R890Q;ENSP00000361484:R603Q	.|ENSP00000353030:R1531Q	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43857406|43857406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.546000|0.546000	0.35178|0.35178	6.698000|6.698000	0.74608|0.74608	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.627	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	29	0	0	0	0.001984	0	7	29				
KDM4A	9682	broad.mit.edu	37	1	44137514	44137514	+	Missense_Mutation	SNP	G	G	A	rs368052422		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44137514G>A	ENST00000372396.3	+	11	1836	c.1702G>A	c.(1702-1704)Gct>Act	p.A568T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	568					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A568T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGAAGCGCCGCTAGAAGTTT	0.612																																							uc001cjx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1702-1704)GCT>ACT		jumonji domain containing 2A							70.0	79.0	76.0					1																	44137514		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44137514G>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1702G>A	1.37:g.44137514G>A	ENSP00000361473:p.Ala568Thr					KDM4A_uc010oki.1_Intron	p.A568T	NM_014663	NP_055478	O75164	KDM4A_HUMAN			11	1868	+			568					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1702G>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854711	0.17106	.	.	ENSG00000066135	ENST00000372396	T	0.49432	0.78	5.17	-2.95	0.05564	.	1.055890	0.07341	N	0.880754	T	0.19046	0.0457	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24835	-1.0149	10	0.10111	T	0.7	-0.2975	6.6872	0.23152	0.4572:0.2595:0.2832:0.0	.	568	O75164	KDM4A_HUMAN	T	568	ENSP00000361473:A568T	ENSP00000361473:A568T	A	+	1	0	KDM4A	43910101	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.166000	0.09954	-0.629000	0.05575	0.650000	0.86243	GCT		0.612	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		6	187	0	0	0	0.001984	0	6	187				
FAF1	11124	broad.mit.edu	37	1	50941174	50941174	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:50941174C>A	ENST00000396153.2	-	18	2282	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	FAF1_ENST00000371778.4_Missense_Mutation_p.D611Y|FAF1_ENST00000545823.1_Missense_Mutation_p.D369Y	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	611	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.D611Y(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTACTCATCCCATGGAAAT	0.488																																							uc009vyx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1831-1833)GAT>TAT		FAS-associated factor 1							112.0	112.0	112.0					1																	50941174		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50941174C>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1831G>T	1.37:g.50941174C>A	ENSP00000379457:p.Asp611Tyr					FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.D611Y|FAF1_uc010onc.1_Missense_Mutation_p.D369Y	p.D611Y	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	19	1894	-			611			UBX.		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.1831G>T	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878754	0.72294	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.62	3.74	0.42951	UBX (3);	0.254347	0.45867	D	0.000339	T	0.60314	0.2259	L	0.58810	1.83	0.53005	D	0.999964	P;B	0.36753	0.568;0.272	P;B	0.46049	0.502;0.119	T	0.60209	-0.7308	9	0.59425	D	0.04	-22.1252	9.8333	0.40954	0.0:0.667:0.2635:0.0696	.	369;611	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Y	611;611;369;451;459	.	ENSP00000360843:D611Y	D	-	1	0	FAF1	50713762	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.563000	0.60823	0.719000	0.32188	0.655000	0.94253	GAT		0.488	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		12	581	1	0	5.35267e-07	0.007413	6.16956e-07	12	581				
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:52486661G>A	ENST00000371626.4	-	7	1537	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TXNDC12_ENST00000471493.1_5'Flank	NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	155					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)	p.Q155*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	AGCCTTTCCTGAGCTTCCTTC	0.383																																							uc001cti.2		NA																	2	Substitution - Nonsense(2)	p.Q155L(1)	lung(2)	ovary(1)	1						c.(463-465)CAG>TAG		thioredoxin domain containing 12 precursor							127.0	112.0	117.0					1																	52486661		2203	4300	6503	SO:0001587	stop_gained	51060				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr1:52486661G>A	AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"""Protein disulfide isomerases"""	24626	protein-coding gene	gene with protein product	"""endoplasmic reticulum thioredoxin superfamily member, 18 kDa"", ""anterior gradient homolog 1 (Xenopus laevis)"", ""protein disulfide isomerase family A, member 16"""	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.463C>T	1.37:g.52486661G>A	ENSP00000360688:p.Gln155*						p.Q155*	NM_015913	NP_056997	O95831	AIFM1_HUMAN			7	742	-			Error:Variant_position_missing_in_O95831_after_alignment					B3KQS0|Q5T1T4|Q96H50	Nonsense_Mutation	SNP	ENST00000371626.4	37	c.463C>T	CCDS561.1	.	.	.	.	.	.	.	.	.	.	G	45	11.503395	0.99569	.	.	ENSG00000117862	ENST00000371626	.	.	.	5.62	5.62	0.85841	.	0.128326	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.4314	0.87540	0.0:0.0:1.0:0.0	.	.	.	.	X	155	.	ENSP00000360688:Q155X	Q	-	1	0	TXNDC12	52259249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.534000	0.82004	2.646000	0.89796	0.655000	0.94253	CAG		0.383	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913		46	310	0	0	0	0.00361	0	46	310				
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:57409484G>T	ENST00000371237.4	-	8	1185	c.1119C>A	c.(1117-1119)aaC>aaA	p.N373K	C8B_ENST00000535057.1_Missense_Mutation_p.N311K|C8B_ENST00000543257.1_Missense_Mutation_p.N321K	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.N373K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATGGACGTTGTTAAGAGTAT	0.438																																							uc001cyp.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1117-1119)AAC>AAA		complement component 8, beta polypeptide							145.0	130.0	135.0					1																	57409484		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57409484G>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1119C>A	1.37:g.57409484G>T	ENSP00000360281:p.Asn373Lys					C8B_uc010oon.1_Missense_Mutation_p.N311K|C8B_uc010ooo.1_Missense_Mutation_p.N321K	p.N373K	NM_000066	NP_000057	P07358	CO8B_HUMAN			8	1186	-			373			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1119C>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	7.929	0.740298	0.15642	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.83914	-1.78;-1.78;-1.78	4.49	-1.88	0.07713	Membrane attack complex component/perforin (MACPF) domain (3);	0.756670	0.13336	N	0.395546	T	0.54111	0.1838	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.003;0.003;0.007	T	0.48281	-0.9049	10	0.10377	T	0.69	-2.1875	8.6794	0.34198	0.6649:0.1616:0.1736:0.0	.	321;311;373	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	K	373;321;311	ENSP00000360281:N373K;ENSP00000442548:N321K;ENSP00000440113:N311K	ENSP00000360281:N373K	N	-	3	2	C8B	57182072	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-0.407000	0.07178	-0.335000	0.08451	0.655000	0.94253	AAC		0.438	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			52	296	1	0	4.63999e-43	0.00361	7.89163e-43	52	296				
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:67266839G>T	ENST00000304526.2	-	1	100	c.66C>A	c.(64-66)agC>agA	p.S22R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	22						extracellular region (GO:0005576)		p.S22R(2)		breast(2)|endometrium(1)|lung(5)	8						CAGACTCCTTGCTCCGCACTT	0.463																																							uc001dcw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(64-66)AGC>AGA		insulin-like 5 precursor							91.0	87.0	88.0					1																	67266839		2203	4300	6503	SO:0001583	missense	10022					extracellular region	hormone activity	g.chr1:67266839G>T	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.66C>A	1.37:g.67266839G>T	ENSP00000302724:p.Ser22Arg						p.S22R	NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN			1	101	-			22					Q3MIY4|Q5VYD8	Missense_Mutation	SNP	ENST00000304526.2	37	c.66C>A	CCDS634.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417365	0.25552	.	.	ENSG00000172410	ENST00000304526	D	0.84730	-1.89	4.48	2.55	0.30701	Insulin-like (2);	0.707068	0.13641	N	0.372969	T	0.58722	0.2142	L	0.31752	0.955	0.09310	N	1	B	0.18013	0.025	B	0.16722	0.016	T	0.52465	-0.8572	10	0.45353	T	0.12	17.0228	6.3656	0.21453	0.264:0.0:0.736:0.0	.	22	Q9Y5Q6	INSL5_HUMAN	R	22	ENSP00000302724:S22R	ENSP00000302724:S22R	S	-	3	2	INSL5	67039427	0.000000	0.05858	0.002000	0.10522	0.218000	0.24690	0.058000	0.14301	0.448000	0.26722	0.655000	0.94253	AGC		0.463	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		74	148	1	0	4.38691e-48	0.00361	7.64171e-48	74	148				
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:70504811A>G	ENST00000035383.5	+	19	3220	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	LRRC7_ENST00000310961.5_Missense_Mutation_p.K1069E|LRRC7_ENST00000415775.2_Missense_Mutation_p.K348E	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.K1064E(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCAGCAAAAACATCGC	0.463																																							uc001dep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3190-3192)AAA>GAA		leucine rich repeat containing 7							65.0	69.0	68.0					1																	70504811		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504811A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3190A>G	1.37:g.70504811A>G	ENSP00000035383:p.Lys1064Glu					LRRC7_uc009wbg.2_Missense_Mutation_p.K348E|LRRC7_uc001deq.2_Missense_Mutation_p.K305E	p.K1064E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3220	+			1064					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3190A>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180601	0.38511	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39787	1.06;1.14;2.24	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.50333	1.59	0.53688	D	0.999972	D;D;D	0.76494	0.999;0.996;0.993	D;D;D	0.76071	0.948;0.987;0.971	T	0.42949	-0.9421	10	0.35671	T	0.21	.	15.0111	0.71550	1.0:0.0:0.0:0.0	.	348;1064;1064	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	E	1069;1064;348;887	ENSP00000309245:K1069E;ENSP00000035383:K1064E;ENSP00000394867:K348E	ENSP00000035383:K1064E	K	+	1	0	LRRC7	70277399	1.000000	0.71417	0.513000	0.27749	0.019000	0.09904	8.865000	0.92300	2.142000	0.66516	0.460000	0.39030	AAA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		20	54	0	0	0	0.010504	0	20	54				
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:72400910C>A	ENST00000357731.5	-	2	500	c.261G>T	c.(259-261)gtG>gtT	p.V87V	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000434200.1_Silent_p.V85V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	87	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.V87V(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCGAGGATCCACTGACCACT	0.433																																							uc001dfw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(259-261)GTG>GTT		neuronal growth regulator 1 precursor							116.0	111.0	113.0					1																	72400910		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400910C>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.261G>T	1.37:g.72400910C>A						NEGR1_uc001dfv.2_5'UTR|NEGR1_uc010oqs.1_Silent_p.V87V	p.V87V	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	361	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	87			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.261G>T	CCDS661.1																																																																																				0.433	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		24	85	1	0	3.6726e-16	0.003954	4.98293e-16	24	85				
ERICH3	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:75042610T>A	ENST00000326665.5	-	13	2405	c.2187A>T	c.(2185-2187)tcA>tcT	p.S729S	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		729	Glu-rich.							p.S729S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAATGGCAATGAATCCTTTC	0.383																																							uc001dgg.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2185-2187)TCA>TCT		hypothetical protein LOC127254							102.0	95.0	97.0					1																	75042610		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75042610T>A																												ENST00000326665.5:c.2187A>T	1.37:g.75042610T>A						uc001dgh.2_5'Flank	p.S729S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			13	2406	-			729			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2187A>T	CCDS30755.1																																																																																				0.383	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	188	0	0	0	0.001168	0	6	188				
ERICH3	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:75097613C>G	ENST00000326665.5	-	7	822		c.e7-1		C1orf173_ENST00000420661.2_Splice_Site	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN										p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTGCCCTGTAATCATA	0.368																																							uc001dgg.2		NA																	2	Unknown(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.e7-1		hypothetical protein LOC127254							129.0	113.0	118.0					1																	75097613		2203	4300	6503	SO:0001630	splice_region_variant	127254							g.chr1:75097613C>G																												ENST00000326665.5:c.604-1G>C	1.37:g.75097613C>G						C1orf173_uc001dgi.3_Splice_Site	p.G202_splice	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			7	823	-								Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Splice_Site	SNP	ENST00000326665.5	37	c.604_splice	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292321	0.59976	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8198	0.92092	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf173	74870201	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.646000	0.61411	2.538000	0.85594	0.650000	0.86243	.		0.368	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		Intron	21	407	0	0	0	0.00278	0	21	407				
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:78959150G>C	ENST00000370757.3	+	2	959	c.722G>C	c.(721-723)aGa>aCa	p.R241T	PTGFR_ENST00000370758.1_Missense_Mutation_p.R241T|PTGFR_ENST00000370756.3_Missense_Mutation_p.R241T	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423																																							uc001din.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|breast(2)|skin(1)	6						c.(721-723)AGA>ACA		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						60.0	58.0	59.0					1																	78959150		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78959150G>C	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.722G>C	1.37:g.78959150G>C	ENSP00000359793:p.Arg241Thr					PTGFR_uc001dim.2_Missense_Mutation_p.R241T	p.R241T	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	988	+			241			Cytoplasmic (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.722G>C	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211272	0.39102	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.39406	1.08;1.08;1.08	5.7	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.152032	0.64402	D	0.000014	T	0.21103	0.0508	L	0.52905	1.665	0.49915	D	0.999831	B;P	0.35011	0.145;0.48	B;B	0.28465	0.047;0.09	T	0.04664	-1.0935	10	0.22706	T	0.39	-14.1823	15.0907	0.72192	0.068:0.0:0.932:0.0	.	241;241	P43088;P43088-2	PF2R_HUMAN;.	T	241	ENSP00000359794:R241T;ENSP00000359793:R241T;ENSP00000359792:R241T	ENSP00000359792:R241T	R	+	2	0	PTGFR	78731738	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.813000	0.62620	1.567000	0.49668	0.655000	0.94253	AGA		0.423	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		22	98	0	0	0	0.00632	0	22	98				
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:79402013A>T	ENST00000370742.3	-	7	907	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	282					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTCTTTGGAAATATATTTATG	0.279																																							uc001diq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(844-846)TTT>ATT		EGF, latrophilin and seven transmembrane domain							94.0	99.0	98.0					1																	79402013		1794	4019	5813	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79402013A>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.844T>A	1.37:g.79402013A>T	ENSP00000359778:p.Phe282Ile						p.F282I	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	7	1000	-			282			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.844T>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	9.778	1.174437	0.21704	.	.	ENSG00000162618	ENST00000370742	T	0.09630	2.96	5.86	1.86	0.25419	Domain of unknown function DUF3497 (1);	0.483182	0.24740	N	0.035990	T	0.02119	0.0066	L	0.36672	1.1	0.21782	N	0.999543	B	0.02656	0.0	B	0.09377	0.004	T	0.47315	-0.9127	9	.	.	.	.	5.5053	0.16850	0.7141:0.0:0.1517:0.1342	.	282	Q9HBW9	ELTD1_HUMAN	I	282	ENSP00000359778:F282I	.	F	-	1	0	ELTD1	79174601	1.000000	0.71417	0.968000	0.41197	0.111000	0.19643	2.063000	0.41423	0.047000	0.15862	-0.274000	0.10170	TTT		0.279	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		29	232	0	0	0	0.005524	0	29	232				
GBP1	2633	broad.mit.edu	37	1	89523812	89523812	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:89523812T>G	ENST00000370473.4	-	6	956	c.737A>C	c.(736-738)aAg>aCg	p.K246T	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	246	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.K246T(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTGGGCAAGCTTCCTGCGGTG	0.433																																							uc001dmx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(736-738)AAG>ACG		guanylate binding protein 1,							156.0	168.0	164.0					1																	89523812		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523812T>G	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.737A>C	1.37:g.89523812T>G	ENSP00000359504:p.Lys246Thr						p.K246T	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	957	-		Lung NSC(277;0.123)	246					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.737A>C	CCDS718.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524720	0.44969	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.74947	-0.89	4.48	3.34	0.38264	Guanylate-binding protein, N-terminal (1);	0.669192	0.14930	N	0.290102	T	0.69269	0.3092	M	0.86178	2.8	0.09310	N	1	P	0.38129	0.619	P	0.48598	0.583	T	0.66101	-0.6007	10	0.48119	T	0.1	.	4.6561	0.12618	0.0:0.1039:0.1937:0.7024	.	246	P32455	GBP1_HUMAN	T	246;209	ENSP00000359504:K246T	ENSP00000359504:K246T	K	-	2	0	GBP1	89296400	0.031000	0.19500	0.005000	0.12908	0.018000	0.09664	2.448000	0.44926	0.572000	0.29383	0.260000	0.18958	AAG		0.433	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		8	233	0	0	0	0.001368	0	8	233				
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:92174229C>A	ENST00000525962.1	-	13	2339	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	TGFBR3_ENST00000212355.4_Nonsense_Mutation_p.E760*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E759*			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E760*(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTTTAGATTCTGCTTCATGG	0.493																																							uc001doh.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(2278-2280)GAA>TAA		transforming growth factor, beta receptor III							130.0	113.0	119.0					1																	92174229		2203	4300	6503	SO:0001587	stop_gained	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92174229C>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2278G>T	1.37:g.92174229C>A	ENSP00000436127:p.Glu760*					TGFBR3_uc009wde.2_Nonsense_Mutation_p.E455*|TGFBR3_uc010osy.1_Nonsense_Mutation_p.E718*|TGFBR3_uc001doi.2_Nonsense_Mutation_p.E759*|TGFBR3_uc001doj.2_Nonsense_Mutation_p.E759*	p.E760*	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	14	2744	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	760			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Nonsense_Mutation	SNP	ENST00000525962.1	37	c.2278G>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	37	6.093308	0.97276	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	.	.	.	5.68	0.335	0.15953	.	1.656800	0.02692	N	0.110745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.1744	1.5418	0.02557	0.1515:0.3105:0.3422:0.1958	.	.	.	.	X	760;759;760;759	.	ENSP00000212355:E760X	E	-	1	0	TGFBR3	91946817	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	1.443000	0.35057	0.292000	0.22492	0.561000	0.74099	GAA		0.493	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		56	237	1	0	1.73933e-33	0.00361	2.78706e-33	56	237				
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:94574149G>T	ENST00000370225.3	-	4	512	c.426C>A	c.(424-426)caC>caA	p.H142Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.H142Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	142					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.H142Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTCCGGGTGAGTCCGGA	0.498																																							uc001dqh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(424-426)CAC>CAA		ATP-binding cassette, sub-family A member 4							109.0	102.0	104.0					1																	94574149		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94574149G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.426C>A	1.37:g.94574149G>T	ENSP00000359245:p.His142Gln					ABCA4_uc010otn.1_Missense_Mutation_p.H142Q	p.H142Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	4	530	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	142			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.426C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	7.314	0.615573	0.14129	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91011	-2.66;-2.77	5.55	3.68	0.42216	.	0.517604	0.20396	N	0.093157	T	0.81688	0.4875	L	0.54323	1.7	0.35385	D	0.790248	D;B	0.53312	0.959;0.028	B;B	0.42361	0.385;0.009	T	0.81243	-0.1021	10	0.51188	T	0.08	.	8.0789	0.30733	0.2695:0.0:0.7305:0.0	.	142;142	F5H6E5;P78363	.;ABCA4_HUMAN	Q	142	ENSP00000359245:H142Q;ENSP00000437682:H142Q	ENSP00000359245:H142Q	H	-	3	2	ABCA4	94346737	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	2.526000	0.45607	1.359000	0.45940	0.557000	0.71058	CAC		0.498	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		52	138	1	0	9.77497e-20	0.00361	1.39458e-19	52	138				
PLPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:99767413A>C	ENST00000370185.3	+	6	1423	c.926A>C	c.(925-927)tAt>tCt	p.Y309S	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.Y151S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.Y309S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTTGATGTCTATTGTGGCTTT	0.358																																							uc001dse.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(925-927)TAT>TCT		plasticity related gene 1							141.0	136.0	138.0					1																	99767413		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99767413A>C																												ENST00000370185.3:c.926A>C	1.37:g.99767413A>C	ENSP00000359204:p.Tyr309Ser					LPPR4_uc010oue.1_Intron	p.Y309S	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	1032	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	309			Helical; (Potential).		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.926A>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727655	0.89390	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.74315	-0.83;-0.83	5.11	5.11	0.69529	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.124331	0.56097	D	0.000029	T	0.78679	0.4321	L	0.55103	1.725	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	T	0.81106	-0.1083	10	0.56958	D	0.05	-15.3734	14.9187	0.70818	1.0:0.0:0.0:0.0	.	309	Q7Z2D5	LPPR4_HUMAN	S	309;309;151	ENSP00000359204:Y309S;ENSP00000359203:Y151S	ENSP00000263178:Y309S	Y	+	2	0	RP4-788L13.1	99540001	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	8.962000	0.93254	1.921000	0.55644	0.402000	0.26972	TAT		0.358	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			17	167	0	0	0	0.007413	0	17	167				
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:100336081G>T	ENST00000294724.4	+	6	1268	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	AGL_ENST00000361915.3_Missense_Mutation_p.G264W|AGL_ENST00000370163.3_Missense_Mutation_p.G264W|AGL_ENST00000361522.4_Missense_Mutation_p.G247W|AGL_ENST00000370165.3_Missense_Mutation_p.G264W|AGL_ENST00000361302.3_Missense_Mutation_p.G248W|AGL_ENST00000370161.2_Missense_Mutation_p.G248W	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	264					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.G264W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTGCAGAAGGGAAATACAA	0.383																																							uc001dsi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(790-792)GGG>TGG		amylo-1,6-glucosidase,							103.0	102.0	103.0					1																	100336081		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100336081G>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.790G>T	1.37:g.100336081G>T	ENSP00000294724:p.Gly264Trp					AGL_uc001dsj.1_Missense_Mutation_p.G264W|AGL_uc001dsk.1_Missense_Mutation_p.G264W|AGL_uc001dsl.1_Missense_Mutation_p.G264W|AGL_uc001dsm.1_Missense_Mutation_p.G248W|AGL_uc001dsn.1_Missense_Mutation_p.G247W	p.G264W	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	6	1190	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	264			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.790G>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.470539	0.84533	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.37	5.37	0.77165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90194	0.4252	10	0.87932	D	0	.	19.4745	0.94982	0.0:0.0:1.0:0.0	.	247;248;264	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	W	264;264;264;264;248;248;247	ENSP00000355106:G264W;ENSP00000359184:G264W;ENSP00000359182:G264W;ENSP00000294724:G264W;ENSP00000354971:G248W;ENSP00000359180:G248W;ENSP00000354635:G247W	ENSP00000294724:G264W	G	+	1	0	AGL	100108669	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.743000	0.98849	2.677000	0.91161	0.585000	0.79938	GGG		0.383	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		35	123	1	0	1.41504e-22	0.002852	2.08776e-22	35	123				
COL11A1	1301	broad.mit.edu	37	1	103347308	103347308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:103347308G>T	ENST00000370096.3	-	65	5297	c.4985C>A	c.(4984-4986)tCa>tAa	p.S1662*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.S1674*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.S1623*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.S1546*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1662	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.S1674*(1)|p.S1662*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTGGCCATGATGAAATTCT	0.318																																							uc001dul.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4984-4986)TCA>TAA		alpha 1 type XI collagen isoform A							92.0	84.0	87.0					1																	103347308		2202	4300	6502	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103347308G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4985C>A	1.37:g.103347308G>T	ENSP00000359114:p.Ser1662*					COL11A1_uc001duk.2_Nonsense_Mutation_p.S858*|COL11A1_uc001dum.2_Nonsense_Mutation_p.S1674*|COL11A1_uc001dun.2_Nonsense_Mutation_p.S1623*|COL11A1_uc009weh.2_Nonsense_Mutation_p.S1546*	p.S1662*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	65	5303	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1662			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.4985C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	46	12.261330	0.99651	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	4.9	4.9	0.64082	.	0.249017	0.34959	N	0.003543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.248	0.89993	0.0:0.0:1.0:0.0	.	.	.	.	X	1662;1674;1623;882;1546	.	ENSP00000302551:S1623X	S	-	2	0	COL11A1	103119896	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	5.434000	0.66526	2.322000	0.78497	0.447000	0.29281	TCA		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		10	86	1	0	9.31168e-06	0.001855	1.04756e-05	10	86				
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:109241225G>T	ENST00000370025.4	+	5	827		c.e5-1		PRPF38B_ENST00000370021.1_Splice_Site	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.?(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TGTTTCTGTAGGACCTAGATG	0.353																																							uc001dvv.3		NA																	2	Unknown(2)		lung(2)		0						c.e5-1		PRP38 pre-mRNA processing factor 38 (yeast)							109.0	104.0	105.0					1																	109241225		2203	4300	6503	SO:0001630	splice_region_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241225G>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.559-1G>T	1.37:g.109241225G>T						PRPF38B_uc001dvw.3_Splice_Site_p.D76_splice|PRPF38B_uc010ouz.1_Splice_Site	p.D187_splice	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	5	841	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)						Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Splice_Site	SNP	ENST00000370025.4	37	c.559_splice	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589119	0.66105	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9116	0.97026	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF38B	109042748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.710000	0.92621	0.650000	0.86243	.		0.353	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061	Intron	50	96	1	0	4.6707e-30	0.00361	7.37479e-30	50	96				
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:114640465C>A	ENST00000610222.1	-	6	1545	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SYT6_ENST00000609117.1_Missense_Mutation_p.V382L|SYT6_ENST00000393296.1_Missense_Mutation_p.V467L|SYT6_ENST00000369547.1_Missense_Mutation_p.V382L|SYT6_ENST00000607941.1_Missense_Mutation_p.V382L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.V382L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATCCCCACACGACAGACT	0.567																																							uc001eev.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1144-1146)GTG>TTG		synaptotagmin VI							103.0	93.0	97.0					1																	114640465		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114640465C>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1399G>T	1.37:g.114640465C>A	ENSP00000476396:p.Val467Leu					SYT6_uc001eeu.2_Missense_Mutation_p.V27L	p.V382L	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1394	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	467			Cytoplasmic (Potential).		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.1144G>T		.	.	.	.	.	.	.	.	.	.	C	15.36	2.810448	0.50421	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.37	5.37	0.77165	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	N	0.25245	0.725	0.80722	D	1	B;B	0.33528	0.292;0.416	B;B	0.34180	0.122;0.177	T	0.46857	-0.9161	10	0.34782	T	0.22	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	467;382	Q5T7P8;Q5T7P8-2	SYT6_HUMAN;.	L	382;467;382;467	ENSP00000358560:V382L;ENSP00000376974:V467L;ENSP00000358559:V382L;ENSP00000358558:V467L	ENSP00000358558:V467L	V	-	1	0	SYT6	114441988	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	6.047000	0.71038	2.512000	0.84698	0.462000	0.41574	GTG		0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		33	216	1	0	2.52637e-11	0.005524	3.15797e-11	33	216				
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:117509740T>C	ENST00000393203.2	+	6	1994	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	616	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L616P(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGTGAAGCTGGAGAATTGG	0.498																																							uc001egv.1		NA																	2	Substitution - Missense(2)		lung(2)	liver(1)	1						c.(1846-1848)CTG>CCG		prostaglandin F2 receptor negative regulator							138.0	140.0	139.0					1																	117509740		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117509740T>C	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1847T>C	1.37:g.117509740T>C	ENSP00000376899:p.Leu616Pro						p.L616P	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	6	1984	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	616			Ig-like C2-type 5.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1847T>C	CCDS890.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294686	0.60086	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.04654	3.58	5.56	4.43	0.53597	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.087780	0.50627	D	0.000112	T	0.06917	0.0176	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.18524	-1.0334	10	0.42905	T	0.14	-19.6726	6.0138	0.19589	0.0:0.0842:0.1647:0.7511	.	616	Q9P2B2	FPRP_HUMAN	P	616;475	ENSP00000376899:L616P	ENSP00000376899:L616P	L	+	2	0	PTGFRN	117311263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.541000	0.53618	1.060000	0.40578	0.528000	0.53228	CTG		0.498	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		50	649	0	0	0	0.00361	0	50	649				
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:119619185T>C	ENST00000235521.4	-	2	162	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000369426.5_Missense_Mutation_p.I46V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	46					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.I46V(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AGGTGGAGGATTCCTGTAGGT	0.448																																							uc001ehn.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(136-138)ATC>GTC		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						148.0	161.0	157.0					1																	119619185		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119619185T>C	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.136A>G	1.37:g.119619185T>C	ENSP00000235521:p.Ile46Val					WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.I46V|WARS2_uc010oxg.1_Missense_Mutation_p.I46V|WARS2_uc010oxh.1_Missense_Mutation_p.I46V|WARS2_uc010oxi.1_5'UTR	p.I46V	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	2	164	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	46					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.136A>G	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	8.255	0.809918	0.16537	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.51071	0.72;0.72	5.78	3.47	0.39725	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.492675	0.25175	N	0.032565	T	0.13286	0.0322	N	0.16201	0.385	0.80722	D	1	B;B;B;B	0.30605	0.287;0.002;0.002;0.073	B;B;B;B	0.30179	0.112;0.007;0.006;0.044	T	0.05616	-1.0874	10	0.30078	T	0.28	-9.5161	8.9841	0.35983	0.0:0.1446:0.0:0.8554	.	46;46;46;46	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	V	46	ENSP00000358434:I46V;ENSP00000235521:I46V	ENSP00000235521:I46V	I	-	1	0	WARS2	119420708	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.968000	0.49224	0.546000	0.28920	-0.326000	0.08463	ATC		0.448	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		59	511	0	0	0	0.00361	0	59	511				
PDE4DIP	9659	broad.mit.edu	37	1	144863409	144863409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:144863409C>A	ENST00000369354.3	-	37	6183	c.5994G>T	c.(5992-5994)caG>caT	p.Q1998H	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2083H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1892H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2134H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1998					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)			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)		TCTCTTCACACTGTTGCTGCA	0.522			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5992-5994)CAG>CAT		phosphodiesterase 4D interacting protein isoform							191.0	181.0	185.0					1																	144863409		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863409C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5994G>T	1.37:g.144863409C>A	ENSP00000358360:p.Gln1998His					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.Q1892H|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q1005H|PDE4DIP_uc001ema.2_3'UTR	p.Q1998H	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6285	-			1998			Potential.		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.5994G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.29|19.29	3.798856|3.798856	0.70567|0.70567	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.03181|.	4.02;4.06;4.05;4.14;4.11|.	4.83|4.83	3.92|3.92	0.45320|0.45320	.|.	.|.	.|.	.|.	.|.	T|T	0.51736|0.51736	0.1692|0.1692	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.996|.	D;D|.	0.85130|.	0.997;0.986|.	T|T	0.55010|0.55010	-0.8207|-0.8207	9|5	0.72032|.	D|.	0.01|.	.|.	7.6387|7.6387	0.28282|0.28282	0.0:0.8055:0.0:0.1945|0.0:0.8055:0.0:0.1945	.|.	1892;1998|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	H|I	1892;1998;1998;2083;2134|155	ENSP00000327209:Q1892H;ENSP00000358360:Q1998H;ENSP00000358363:Q1998H;ENSP00000435654:Q2083H;ENSP00000358366:Q2134H|.	ENSP00000327209:Q1892H|.	Q|S	-|-	3|2	2|0	PDE4DIP|PDE4DIP	143574766|143574766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.237000|2.237000	0.43061|0.43061	1.179000|1.179000	0.42884|0.42884	0.484000|0.484000	0.47621|0.47621	CAG|AGT		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		9	515	1	0	1.3612e-06	0.003163	1.55074e-06	9	515				
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151204252G>T	ENST00000368888.4	+	5	765	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L	PIP5K1A_ENST00000409426.1_Missense_Mutation_p.V103L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V103L|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V102L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	115	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.V115L(2)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTTCTACGTGGTTGAGAG	0.488																																					Pancreas(80;36 1443 2325 16095 21302)	Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(343-345)GTG>TTG		phosphatidylinositol-4-phosphate 5-kinase, type							174.0	149.0	157.0					1																	151204252		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151204252G>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.343G>T	1.37:g.151204252G>T	ENSP00000357883:p.Val115Leu					PIP5K1A_uc001exi.2_Missense_Mutation_p.V102L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.V103L|PIP5K1A_uc001exk.2_Missense_Mutation_p.V102L|PIP5K1A_uc010pcv.1_5'Flank	p.V115L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	795	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		115			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.343G>T	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010935	0.93346	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000418435	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.44	5.44	0.79542	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	M	0.71206	2.165	0.80722	D	1	P;P;P;D	0.63880	0.564;0.953;0.645;0.993	B;P;B;P	0.58130	0.3;0.808;0.303;0.833	T	0.17349	-1.0372	9	.	.	.	.	19.1291	0.93397	0.0:0.0:1.0:0.0	.	103;102;115;102	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	L	102;103;103;102;115;79	ENSP00000271663:V102L;ENSP00000386432:V103L;ENSP00000415648:V103L;ENSP00000357885:V102L;ENSP00000357883:V115L;ENSP00000414632:V79L	.	V	+	1	0	PIP5K1A	149470876	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	9.653000	0.98506	2.857000	0.98124	0.644000	0.83932	GTG		0.488	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		103	290	1	0	1.4093e-69	0.00361	2.62876e-69	103	290				
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151288658C>A	ENST00000368873.1	-	2	468	c.300G>T	c.(298-300)gaG>gaT	p.E100D	PI4KB_ENST00000271657.5_Missense_Mutation_p.E112D|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Missense_Mutation_p.E112D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E100D|PI4KB_ENST00000368872.1_Missense_Mutation_p.E100D			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	100	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.E112D(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCATCTTCCTCCTCCCTGA	0.577																																					Colon(154;765 1838 9854 28443 37492)	Colon(154;765 1838 9854 28443 37492)	uc001ext.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(298-300)GAG>GAT		catalytic phosphatidylinositol 4-kinase beta							104.0	89.0	94.0					1																	151288658		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288658C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.300G>T	1.37:g.151288658C>A	ENSP00000357867:p.Glu100Asp					PI4KB_uc001exr.2_Missense_Mutation_p.E112D|PI4KB_uc001exs.2_Missense_Mutation_p.E100D|PI4KB_uc001exu.2_Missense_Mutation_p.E100D|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.E112D	p.E100D	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	715	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		100					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.300G>T		.	.	.	.	.	.	.	.	.	.	C	18.38	3.610397	0.66558	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.47	1.54	0.23209	.	0.507841	0.21751	N	0.069677	T	0.18425	0.0442	N	0.19112	0.55	0.43808	D	0.99636	P;D;B	0.58268	0.879;0.982;0.076	P;P;B	0.48627	0.503;0.584;0.04	T	0.02064	-1.1220	10	0.19590	T	0.45	-6.1146	8.7777	0.34771	0.0:0.6848:0.0:0.3152	.	100;100;100	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	D	100;112;112;100;100;100	ENSP00000357868:E100D;ENSP00000357869:E112D;ENSP00000271657:E112D;ENSP00000357867:E100D;ENSP00000357866:E100D;ENSP00000394719:E100D	ENSP00000271657:E112D	E	-	3	2	PI4KB	149555282	0.965000	0.33210	0.999000	0.59377	0.995000	0.86356	0.374000	0.20501	0.132000	0.18615	0.655000	0.94253	GAG		0.577	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		47	224	1	0	5.66675e-16	0.00361	7.66929e-16	47	224				
THEM4	117145	broad.mit.edu	37	1	151849531	151849531	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151849531C>T	ENST00000368814.3	-	5	977	c.628G>A	c.(628-630)Gtt>Att	p.V210I	THEM4_ENST00000477437.1_5'Flank	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	210					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTACAGGAAACAAAAAATTTC	0.368																																							uc001ezj.1		NA																	0					0						c.(628-630)GTT>ATT		thioesterase superfamily member 4							86.0	89.0	88.0					1																	151849531		2203	4300	6503	SO:0001583	missense	117145				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		g.chr1:151849531C>T	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.628G>A	1.37:g.151849531C>T	ENSP00000357804:p.Val210Ile					THEM4_uc001ezk.1_RNA	p.V210I	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	807	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		210					B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	c.628G>A	CCDS1006.1	.	.	.	.	.	.	.	.	.	.	C	4.598	0.111033	0.08831	.	.	ENSG00000159445	ENST00000368814	T	0.24908	1.83	4.63	-8.05	0.01106	Thioesterase superfamily (1);	0.626886	0.15724	N	0.247748	T	0.05731	0.0150	L	0.48260	1.515	0.26585	N	0.973307	B	0.21606	0.058	B	0.19666	0.026	T	0.19844	-1.0293	10	0.33141	T	0.24	-1.8001	8.3444	0.32263	0.0975:0.1398:0.6126:0.1502	.	210	Q5T1C6	THEM4_HUMAN	I	210	ENSP00000357804:V210I	ENSP00000357804:V210I	V	-	1	0	THEM4	150116155	0.006000	0.16342	0.023000	0.16930	0.361000	0.29550	-3.512000	0.00446	-1.691000	0.01430	-0.158000	0.13435	GTT		0.368	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		6	271	0	0	0	0.001984	0	6	271				
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152285480G>C	ENST00000368799.1	-	3	1917	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	628	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q628E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTGACTGTCACTG	0.567									Ichthyosis																														uc001ezu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1882-1884)CAG>GAG		filaggrin							237.0	240.0	239.0					1																	152285480		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285480G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1882C>G	1.37:g.152285480G>C	ENSP00000357789:p.Gln628Glu					uc001ezv.2_5'Flank	p.Q628E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1918	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		628			Filaggrin 3.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1882C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.731	-0.055481	0.07362	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.82	0.634	0.17718	.	.	.	.	.	T	0.00300	0.0009	N	0.03983	-0.305	0.09310	N	1	B	0.18968	0.032	B	0.31101	0.124	T	0.39035	-0.9633	9	0.02654	T	1	.	8.7246	0.34460	0.1495:0.5017:0.3488:0.0	.	628	P20930	FILA_HUMAN	E	628	ENSP00000357789:Q628E	ENSP00000357789:Q628E	Q	-	1	0	FLG	150552104	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.328000	0.07945	-0.197000	0.10350	-0.719000	0.03609	CAG		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		104	230	0	0	0	0.00361	0	104	230				
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552354T>A	ENST00000368787.3	-	2	115	c.59A>T	c.(58-60)aAg>aTg	p.K20M		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization (GO:0031424)			p.K20M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGGACACTTGGGTGAGGG	0.602																																							uc001fab.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(58-60)AAG>ATG		late cornified envelope 3D							103.0	111.0	108.0					1																	152552354		2203	4300	6503	SO:0001583	missense	84648				keratinization			g.chr1:152552354T>A	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.59A>T	1.37:g.152552354T>A	ENSP00000357776:p.Lys20Met						p.K20M	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)	2	116	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		20					Q3MIL1	Missense_Mutation	SNP	ENST00000368787.3	37	c.59A>T	CCDS1014.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603317	0.28534	.	.	ENSG00000163202	ENST00000368787	T	0.08896	3.04	3.9	3.9	0.45041	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.36836	D	0.887121	D	0.89917	1.0	D	0.85130	0.997	T	0.00872	-1.1532	8	0.87932	D	0	.	9.2692	0.37661	0.0:0.0:0.0:1.0	.	20	Q9BYE3	LCE3D_HUMAN	M	20	ENSP00000357776:K20M	ENSP00000357776:K20M	K	-	2	0	LCE3D	150818978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.205000	0.51090	1.759000	0.51996	0.533000	0.62120	AAG		0.602	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1	NM_032563		55	183	0	0	0	0.00361	0	55	183				
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552359T>G	ENST00000368787.3	-	2	110	c.54A>C	c.(52-54)tcA>tcC	p.S18S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization (GO:0031424)			p.S18S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGAGGGACACT	0.597																																							uc001fab.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(52-54)TCA>TCC		late cornified envelope 3D							103.0	111.0	109.0					1																	152552359		2203	4300	6503	SO:0001819	synonymous_variant	84648				keratinization			g.chr1:152552359T>G	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.54A>C	1.37:g.152552359T>G							p.S18S	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)	2	111	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		18					Q3MIL1	Silent	SNP	ENST00000368787.3	37	c.54A>C	CCDS1014.1																																																																																				0.597	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1	NM_032563		55	191	0	0	0	0.00361	0	55	191				
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552407G>T	ENST00000368787.3	-	2	62	c.6C>A	c.(4-6)tcC>tcA	p.S2S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization (GO:0031424)			p.S2S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TCTGCTGGCAGGACATCTTGG	0.547																																							uc001fab.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(4-6)TCC>TCA		late cornified envelope 3D							90.0	95.0	93.0					1																	152552407		2203	4300	6503	SO:0001819	synonymous_variant	84648				keratinization			g.chr1:152552407G>T	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.6C>A	1.37:g.152552407G>T							p.S2S	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)	2	63	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		2					Q3MIL1	Silent	SNP	ENST00000368787.3	37	c.6C>A	CCDS1014.1																																																																																				0.547	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1	NM_032563		40	203	1	0	6.31075e-24	0.00361	9.4399e-24	40	203				
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152681629C>T	ENST00000368777.1	+	2	334	c.78C>T	c.(76-78)ccC>ccT	p.P26P	LCE4A_ENST00000335535.3_Silent_p.P26P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization (GO:0031424)			p.P26P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAAAATGTCCCTCAAAGTGTG	0.572																																							uc001fak.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(76-78)CCC>CCT		late cornified envelope 4A							125.0	138.0	133.0					1																	152681629		2203	4300	6503	SO:0001819	synonymous_variant	199834				keratinization			g.chr1:152681629C>T	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.78C>T	1.37:g.152681629C>T							p.P26P	NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		1	107	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		26			Cys-rich.		Q14D97	Silent	SNP	ENST00000368777.1	37	c.78C>T	CCDS1022.1																																																																																				0.572	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		49	305	0	0	0	0.00361	0	49	305				
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153005016C>A	ENST00000307098.4	+	2	260	c.195C>A	c.(193-195)tgC>tgA	p.C65*	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617																																							uc001fba.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(193-195)TGC>TGA		small proline-rich protein 1B							106.0	105.0	105.0					1																	153005016		2203	4300	6503	SO:0001587	stop_gained	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153005016C>A	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.195C>A	1.37:g.153005016C>A	ENSP00000306461:p.Cys65*					SPRR1B_uc009wnx.1_Intron	p.C65*	NM_003125	NP_003116	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	259	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65			5.|6 X 8 AA approximate tandem repeats.		B2R5H7|P22529|P22530|Q5T524	Nonsense_Mutation	SNP	ENST00000307098.4	37	c.195C>A	CCDS30863.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864970	0.51482	.	.	ENSG00000169469	ENST00000307098	.	.	.	4.72	0.168	0.15012	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	2.9863	5.153	0.15019	0.0:0.5941:0.1702:0.2357	.	.	.	.	X	65	.	ENSP00000306461:C65X	C	+	3	2	SPRR1B	151271640	0.000000	0.05858	0.715000	0.30552	0.547000	0.35210	-0.676000	0.05221	0.121000	0.18284	0.655000	0.94253	TGC		0.617	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		99	358	1	0	5.93169e-28	0.00361	9.19114e-28	99	358				
SPRR2E	6704	broad.mit.edu	37	1	153066043	153066043	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153066043G>T	ENST00000368751.1	-	2	259	c.185C>A	c.(184-186)cCc>cAc	p.P62H	SPRR2E_ENST00000368750.3_Missense_Mutation_p.P62H|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	62					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)	p.P62H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGGCAGGGTGGGGAAGG	0.552																																							uc001fbh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)CCC>CAC		small proline-rich protein 2E							250.0	243.0	245.0					1																	153066043		2203	4300	6503	SO:0001583	missense	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066043G>T	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.185C>A	1.37:g.153066043G>T	ENSP00000357740:p.Pro62His					SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.P62H	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	246	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		62					Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	c.185C>A	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	G	5.122	0.208096	0.09704	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.35236	1.32;1.32	4.13	0.838	0.18902	.	0.237073	0.22019	N	0.065745	T	0.12390	0.0301	.	.	.	0.09310	N	1	P	0.44380	0.834	B	0.41088	0.347	T	0.10823	-1.0613	9	0.46703	T	0.11	.	6.6784	0.23108	0.0:0.1573:0.4654:0.3773	.	62	P22531	SPR2E_HUMAN	H	62	ENSP00000357740:P62H;ENSP00000357739:P62H	ENSP00000357739:P62H	P	-	2	0	SPRR2E	151332667	0.006000	0.16342	0.000000	0.03702	0.005000	0.04900	0.411000	0.21115	-0.146000	0.11274	0.405000	0.27470	CCC		0.552	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			184	656	1	0	1.01623e-67	0.00361	1.88904e-67	184	656				
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153177368C>A	ENST00000368747.1	+	2	295	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.							p.P62H(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTGCCCCTCGCAGTCT	0.592																																							uc001fbl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(184-186)CCC>CAC		late cornified envelope-like proline-rich 1							153.0	122.0	132.0					1																	153177368		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177368C>A		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.185C>A	1.37:g.153177368C>A	ENSP00000357736:p.Pro62His						p.P62H	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	295	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		62			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.185C>A	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378127	0.24944	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.15	5.15	0.70609	.	0.000000	0.43260	D	0.000599	T	0.56307	0.1976	.	.	.	0.28579	N	0.910222	D	0.89917	1.0	D	0.91635	0.999	T	0.51857	-0.8652	8	0.48119	T	0.1	-3.2315	13.9919	0.64372	0.0:1.0:0.0:0.0	.	62	Q5T871	LELP1_HUMAN	H	62	.	ENSP00000357736:P62H	P	+	2	0	LELP1	151443992	0.510000	0.26171	0.986000	0.45419	0.572000	0.35998	3.168000	0.50801	2.667000	0.90743	0.561000	0.74099	CCC		0.592	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		17	237	1	0	1.48734e-19	0.003214	2.11916e-19	17	237				
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:157556176A>T	ENST00000271532.1	-	6	1052	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	306	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L306Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GACAAGGACCAGCATCTCCCC	0.602																																							uc001fqw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(916-918)CTG>CAG		Fc receptor-like 4 precursor							71.0	66.0	67.0					1																	157556176		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556176A>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.917T>A	1.37:g.157556176A>T	ENSP00000271532:p.Leu306Gln					FCRL4_uc010phy.1_RNA	p.L306Q	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1053	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	306			Ig-like C2-type 4.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.917T>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.772035	0.31320	.	.	ENSG00000163518	ENST00000271532	T	0.13538	2.58	4.12	4.12	0.48240	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.272835	0.19199	N	0.120227	T	0.29716	0.0742	M	0.90019	3.08	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15350	-1.0440	10	0.87932	D	0	.	9.6967	0.40161	1.0:0.0:0.0:0.0	.	306	Q96PJ5	FCRL4_HUMAN	Q	306	ENSP00000271532:L306Q	ENSP00000271532:L306Q	L	-	2	0	FCRL4	155822800	0.045000	0.20229	0.034000	0.17996	0.137000	0.21094	4.059000	0.57470	1.829000	0.53265	0.383000	0.25322	CTG		0.602	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		64	176	0	0	0	0.00361	0	64	176				
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:157803126T>A	ENST00000368174.4	-	5	991	c.895A>T	c.(895-897)Aaa>Taa	p.K299*	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	299	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.K299*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATAGCATTTCCGGTCTCTG	0.577																																							uc001frk.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(895-897)AAA>TAA		CD5 molecule-like precursor							110.0	112.0	111.0					1																	157803126		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803126T>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.895A>T	1.37:g.157803126T>A	ENSP00000357156:p.Lys299*						p.K299*	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1038	-	all_hematologic(112;0.0378)		299			SRCR 3.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.895A>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836081	0.50951	.	.	ENSG00000073754	ENST00000368174	.	.	.	5.06	2.65	0.31530	.	0.495186	0.21289	N	0.077019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.4638	0.44596	0.0:0.0:0.3107:0.6893	.	.	.	.	X	299	.	ENSP00000357156:K299X	K	-	1	0	CD5L	156069750	0.160000	0.22878	0.003000	0.11579	0.021000	0.10359	2.146000	0.42216	0.352000	0.24053	0.533000	0.62120	AAA		0.577	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		66	183	0	0	0	0.00361	0	66	183				
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158670253T>A	ENST00000359610.2	-	1	233	c.190A>T	c.(190-192)Agt>Tgt	p.S64C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S64C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAAAGAGCACTGATAAAAGTA	0.438																																							uc001fsu.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(190-192)AGT>TGT		olfactory receptor, family 6, subfamily K,							91.0	87.0	88.0					1																	158670253		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670253T>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.190A>T	1.37:g.158670253T>A	ENSP00000352626:p.Ser64Cys						p.S64C	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	190	-	all_hematologic(112;0.0378)		64			Helical; Name=2; (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.190A>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	T	2.931	-0.220954	0.06061	.	.	ENSG00000196171	ENST00000359610	T	0.00408	7.54	4.95	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.277173	0.25674	N	0.029057	T	0.00109	0.0003	L	0.58925	1.835	0.09310	N	1	B	0.18863	0.031	B	0.23018	0.043	T	0.50423	-0.8830	10	0.59425	D	0.04	-2.9401	1.7187	0.02907	0.414:0.0813:0.1423:0.3624	.	64	Q8NGY2	OR6K2_HUMAN	C	64	ENSP00000352626:S64C	ENSP00000352626:S64C	S	-	1	0	OR6K2	156936877	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.149000	0.10204	0.019000	0.15079	-0.333000	0.08304	AGT		0.438	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		156	386	0	0	0	0.00361	0	156	386				
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158687393G>T	ENST00000368146.1	-	1	560	c.561C>A	c.(559-561)ccC>ccA	p.P187P	OR6K3_ENST00000368145.1_Silent_p.P171P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P187P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGATTTGGTTGGGCCCACAGA	0.512																																							uc010pip.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(559-561)CCC>CCA		olfactory receptor, family 6, subfamily K,							136.0	131.0	133.0					1																	158687393		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687393G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.561C>A	1.37:g.158687393G>T							p.P187P	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	561	-	all_hematologic(112;0.0378)		187			Extracellular (Potential).		Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.561C>A																																																																																					0.512	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				184	474	1	0	3.16392e-82	0.00361	5.98431e-82	184	474				
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158815548C>A	ENST00000368141.4	+	5	1003	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H248N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAATATTTCCATGTGAAAGT	0.378																																							uc001fsz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(742-744)CAT>AAT		myeloid cell nuclear differentiation antigen							86.0	87.0	87.0					1																	158815548		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815548C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.742C>A	1.37:g.158815548C>A	ENSP00000357123:p.His248Asn						p.H248N	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	942	+	all_hematologic(112;0.0378)		248			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.742C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127534	0.37533	.	.	ENSG00000163563	ENST00000368141	T	0.14766	2.48	4.28	2.36	0.29203	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.414044	0.17910	N	0.157879	T	0.05914	0.0154	L	0.47190	1.495	0.24126	N	0.995786	P	0.43938	0.822	P	0.44946	0.465	T	0.18999	-1.0319	10	0.66056	D	0.02	-0.8244	5.3501	0.16030	0.1985:0.6964:0.0:0.1051	.	248	P41218	MNDA_HUMAN	N	248	ENSP00000357123:H248N	ENSP00000357123:H248N	H	+	1	0	MNDA	157082172	0.613000	0.27009	0.952000	0.39060	0.114000	0.19823	0.491000	0.22419	0.521000	0.28445	0.655000	0.94253	CAT		0.378	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		51	149	1	0	1.40541e-12	0.00361	1.8048e-12	51	149				
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160808305G>T	ENST00000368033.3	-	5	867	c.785C>A	c.(784-786)aCc>aAc	p.T262N	CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Missense_Mutation_p.T257N|CD244_ENST00000322302.7_Missense_Mutation_p.T165N|CD244_ENST00000368034.4_Missense_Mutation_p.T257N			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	262					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T257N(2)|p.T262N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTGGGACTGGTCTCTGAGGG	0.488																																							uc009wtq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(784-786)ACC>AAC		CD244 natural killer cell receptor 2B4							102.0	104.0	103.0					1																	160808305		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160808305G>T	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.785C>A	1.37:g.160808305G>T	ENSP00000357012:p.Thr262Asn					CD244_uc001fxa.2_Missense_Mutation_p.T257N|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.T165N	p.T262N	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	963	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		262			Cytoplasmic (Potential).		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.785C>A	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386756	0.25031	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.47177	0.85;0.85;1.29;0.85	4.61	0.331	0.15933	.	2.704820	0.00990	N	0.003518	T	0.15003	0.0362	N	0.24115	0.695	0.09310	N	1	P;P;B	0.49635	0.926;0.751;0.169	B;B;B	0.41691	0.364;0.222;0.051	T	0.04005	-1.0985	10	0.42905	T	0.14	-34.4256	3.6131	0.08067	0.2003:0.0:0.41:0.3896	.	165;262;257	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	N	257;262;165;257	ENSP00000357013:T257N;ENSP00000357012:T262N;ENSP00000313619:T165N;ENSP00000357011:T257N	ENSP00000313619:T165N	T	-	2	0	CD244	159074929	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.139000	0.10358	0.198000	0.20407	0.655000	0.94253	ACC		0.488	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		54	142	1	0	1.41401e-22	0.00361	2.08776e-22	54	142				
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160811267C>A	ENST00000368033.3	-	3	485	c.403G>T	c.(403-405)Gag>Tag	p.E135*	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368032.2_Nonsense_Mutation_p.E130*|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Nonsense_Mutation_p.E130*			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507																																							uc009wtq.2		NA																	6	Substitution - Nonsense(4)|Substitution - Missense(2)		lung(6)	ovary(1)	1						c.(403-405)GAG>TAG		CD244 natural killer cell receptor 2B4							52.0	56.0	55.0					1																	160811267		2203	4300	6503	SO:0001587	stop_gained	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811267C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.403G>T	1.37:g.160811267C>A	ENSP00000357012:p.Glu135*					CD244_uc001fxa.2_Nonsense_Mutation_p.E130*|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_Intron	p.E135*	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	581	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		135			Extracellular (Potential).|Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Nonsense_Mutation	SNP	ENST00000368033.3	37	c.403G>T	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601048	0.46423	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	.	.	.	4.73	-0.21	0.13176	.	0.966374	0.08527	N	0.932635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	0.5547	3.9219	0.09247	0.0:0.3986:0.239:0.3624	.	.	.	.	X	130;135;130	.	ENSP00000357011:E130X	E	-	1	0	CD244	159077891	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.109000	0.10840	0.140000	0.18849	0.655000	0.94253	GAG		0.507	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		21	111	1	0	3.62473e-10	0.001882	4.41343e-10	21	111				
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680653G>A	ENST00000236938.6	+	2	476	c.234G>A	c.(232-234)caG>caA	p.Q78Q	FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000309691.6_Silent_p.Q61Q|FCRLA_ENST00000367950.1_Silent_p.Q38Q|FCRLA_ENST00000367949.2_Silent_p.Q78Q|FCRLA_ENST00000349527.4_Silent_p.Q61Q|FCRLA_ENST00000540926.1_Silent_p.Q67Q|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367959.2_Silent_p.Q84Q|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367953.3_Silent_p.Q67Q|FCRLA_ENST00000546024.1_Silent_p.Q78Q|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367957.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	61	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.Q84Q(2)|p.Q61Q(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTTCCAGGTCAAGGCCT	0.562																																							uc001gbe.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(250-252)CAG>CAA		Fc receptor-like and mucin-like 1							123.0	92.0	102.0					1																	161680653		2203	4300	6503	SO:0001819	synonymous_variant	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161680653G>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.234G>A	1.37:g.161680653G>A						FCRLA_uc001gbd.2_Silent_p.Q78Q|FCRLA_uc001gbf.2_Silent_p.Q78Q|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Silent_p.Q78Q|FCRLA_uc009wuq.2_Intron	p.Q84Q	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		3	494	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		61					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Silent	SNP	ENST00000236938.6	37	c.252G>A	CCDS30926.1																																																																																				0.562	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		40	123	0	0	0	0.009718	0	40	123				
FCRLA	84824	broad.mit.edu	37	1	161680697	161680698	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680697_161680698CC>AA	ENST00000236938.6	+	2	520_521	c.278_279CC>AA	c.(277-279)tCC>tAA	p.S93*	FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000309691.6_Nonsense_Mutation_p.S76*|FCRLA_ENST00000367950.1_Nonsense_Mutation_p.S53*|FCRLA_ENST00000367949.2_Nonsense_Mutation_p.S93*|FCRLA_ENST00000349527.4_Nonsense_Mutation_p.S76*|FCRLA_ENST00000540926.1_Nonsense_Mutation_p.S82*|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367959.2_Nonsense_Mutation_p.S99*|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367953.3_Nonsense_Mutation_p.S82*|FCRLA_ENST00000546024.1_Nonsense_Mutation_p.S93*|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367957.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGATTGTGTCCTATGGTGAGG	0.554																																							uc001gbe.2		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(295-297)TCC>TAA		Fc receptor-like and mucin-like 1																																				SO:0001587	stop_gained	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161680697_161680698CC>AA	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	Exception_encountered	1.37:g.161680697_161680698delinsAA	ENSP00000236938:p.Ser93*					FCRLA_uc001gbd.2_Nonsense_Mutation_p.S93*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.S93*|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Nonsense_Mutation_p.S93*|FCRLA_uc009wuq.2_Intron	p.S99*	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		3	538_539	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		76			Ig-like C2-type 1.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Nonsense_Mutation	DNP	ENST00000236938.6	37	c.296_297CC>AA	CCDS30926.1																																																																																				0.554	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		43	117	0	0	0	0.004672	0	43	117				
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:162336927G>T	ENST00000361897.5	+	10	1593	c.1191G>T	c.(1189-1191)gaG>gaT	p.E397D	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E392D|NOS1AP_ENST00000493151.1_Missense_Mutation_p.E102D|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E83D	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	397					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.E397D(4)|p.E102D(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTAAGCCAGAGGACCTGCATT	0.667																																							uc001gbv.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(2)|upper_aerodigestive_tract(1)	3						c.(1189-1191)GAG>GAT		nitric oxide synthase 1 (neuronal) adaptor							78.0	89.0	85.0					1																	162336927		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162336927G>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1191G>T	1.37:g.162336927G>T	ENSP00000355133:p.Glu397Asp					NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.E392D|NOS1AP_uc009wut.1_Missense_Mutation_p.E102D	p.E397D	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		10	1578	+	all_hematologic(112;0.203)		397					B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.1191G>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824818	0.71143	.	.	ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000254706	ENST00000530878;ENST00000361897;ENST00000464284;ENST00000493151;ENST00000431696	T;T	0.78481	-1.18;-1.18	4.96	3.93	0.45458	.	0.326332	0.35708	N	0.003031	T	0.46580	0.1400	N	0.20986	0.625	.	.	.	B;B;B	0.17667	0.0;0.023;0.006	B;B;B	0.14578	0.001;0.011;0.003	T	0.42396	-0.9454	9	0.54805	T	0.06	.	8.7149	0.34405	0.1921:0.0:0.8079:0.0	.	102;392;397	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	D	392;397;53;102;83	ENSP00000431586:E392D;ENSP00000355133:E397D	ENSP00000355133:E397D	E	+	3	2	NOS1AP;RP11-565P22.6	160603551	1.000000	0.71417	0.945000	0.38365	0.948000	0.59901	1.616000	0.36933	1.025000	0.39708	0.655000	0.94253	GAG		0.667	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		22	96	1	0	9.57634e-11	0.00333	1.18199e-10	22	96				
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:163298635G>T	ENST00000271452.3	+	5	554		c.e5-1		NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.?(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCATCTTCAAGGGACTCATTT	0.333																																							uc001gcq.1		NA																	4	Unknown(4)		lung(4)	ovary(3)|skin(1)	4						c.e5-1		NUF2, NDC80 kinetochore complex component							145.0	138.0	140.0					1																	163298635		2203	4300	6503	SO:0001630	splice_region_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163298635G>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.276-1G>T	1.37:g.163298635G>T						NUF2_uc001gcp.2_Splice_Site_p.L92_splice|NUF2_uc001gcr.1_Splice_Site_p.L92_splice|NUF2_uc009wvc.1_Splice_Site_p.L92_splice	p.L92_splice	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			5	576	+	all_hematologic(923;0.101)							Q8WU69|Q96HJ4|Q96Q78	Splice_Site	SNP	ENST00000271452.3	37	c.276_splice	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543168	0.45280	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0619	0.64804	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUF2	161565259	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	4.997000	0.63921	2.522000	0.85027	0.650000	0.86243	.		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	Intron	87	294	1	0	6.00251e-64	0.00361	1.1025e-63	87	294				
PRRC2C	23215	broad.mit.edu	37	1	171482234	171482234	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:171482234C>G	ENST00000338920.4	+	3	444	c.207C>G	c.(205-207)ggC>ggG	p.G69G	PRRC2C_ENST00000367742.3_Silent_p.G71G|PRRC2C_ENST00000426496.2_Silent_p.G69G|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Silent_p.G71G	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	69					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.G71G(2)									AAAACAAAGGCAATGATCCTA	0.423																																							uc010pmg.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(205-207)GGC>GGG		HBxAg transactivated protein 2							105.0	95.0	98.0					1																	171482234		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171482234C>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.207C>G	1.37:g.171482234C>G						BAT2L2_uc001ghq.1_Silent_p.G71G|BAT2L2_uc001ghr.1_Silent_p.G71G	p.G69G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			3	473	+			69					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.207C>G	CCDS1296.2																																																																																				0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		9	379	0	0	0	0.008291	0	9	379				
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:173735426G>T	ENST00000209884.4	+	8	1429	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.E431D(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTGTTGAGAGGTGATCTT	0.428																																					GBM(159;862 2695 6559 23041)	GBM(159;862 2695 6559 23041)	uc001gjc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1291-1293)GAG>GAT		kelch-like 20							219.0	209.0	213.0					1																	173735426		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173735426G>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1293G>T	1.37:g.173735426G>T	ENSP00000209884:p.Glu431Asp					KLHL20_uc010pmr.1_Missense_Mutation_p.E242D|KLHL20_uc009wwf.2_Missense_Mutation_p.E413D	p.E431D	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			8	1472	+			431			Kelch 3.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1293G>T	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705937	0.68615	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	D;D	0.84070	-1.8;-1.8	5.6	2.74	0.32292	Galactose oxidase, beta-propeller (1);	0.045429	0.85682	D	0.000000	D	0.88800	0.6535	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	D	0.88279	0.2935	10	0.87932	D	0	.	7.9191	0.29835	0.3884:0.0:0.6116:0.0	.	242;431	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	D	242;431	ENSP00000443121:E242D;ENSP00000209884:E431D	ENSP00000209884:E431D	E	+	3	2	KLHL20	172002049	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.174000	0.42482	0.326000	0.23384	-0.157000	0.13467	GAG		0.428	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		151	353	1	0	2.18101e-91	0.00361	4.15431e-91	151	353				
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:176525673C>G	ENST00000367662.3	+	2	1379	c.215C>G	c.(214-216)cCc>cGc	p.P72R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P72R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	72					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.P72R(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCTACCCCAGCAGGGCT	0.557																																							uc001gkz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(214-216)CCC>CGC		pappalysin 2 isoform 1							117.0	112.0	114.0					1																	176525673		1948	4137	6085	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525673C>G	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.215C>G	1.37:g.176525673C>G	ENSP00000356634:p.Pro72Arg					PAPPA2_uc001gky.1_Missense_Mutation_p.P72R|PAPPA2_uc009www.2_RNA	p.P72R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1379	+			72					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.215C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297329	0.60086	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.39406	4.38;1.08	4.63	4.63	0.57726	.	0.000000	0.51477	U	0.000094	T	0.61362	0.2341	M	0.67953	2.075	0.39266	D	0.964298	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.67360	-0.5690	10	0.72032	D	0.01	-13.7933	12.9893	0.58610	0.0:1.0:0.0:0.0	.	72;72	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	R	72	ENSP00000356634:P72R;ENSP00000356633:P72R	ENSP00000356633:P72R	P	+	2	0	PAPPA2	174792296	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	3.924000	0.56476	2.128000	0.65567	0.561000	0.74099	CCC		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			181	494	0	0	0	0.00361	0	181	494				
PAPPA2	60676	broad.mit.edu	37	1	176734882	176734882	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:176734882C>G	ENST00000367662.3	+	15	5396	c.4232C>G	c.(4231-4233)tCt>tGt	p.S1411C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1411	Sushi 1. {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.S1411C(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						AACTGTACCTCTATAGGCCCA	0.517																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4231-4233)TCT>TGT		pappalysin 2 isoform 1							175.0	170.0	171.0					1																	176734882		2066	4211	6277	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734882C>G	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.4232C>G	1.37:g.176734882C>G	ENSP00000356634:p.Ser1411Cys					PAPPA2_uc009www.2_RNA	p.S1411C	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			15	5396	+			1411			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4232C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989477	0.53934	.	.	ENSG00000116183	ENST00000367662	T	0.01887	4.58	5.69	4.73	0.59995	Sushi/SCR/CCP (1);	0.556823	0.19698	N	0.108115	T	0.08537	0.0212	M	0.74258	2.255	0.32137	N	0.586038	D	0.71674	0.998	P	0.59889	0.865	T	0.00872	-1.1532	10	0.72032	D	0.01	-18.7138	8.6727	0.34161	0.0:0.7649:0.1543:0.0808	.	1411	Q9BXP8	PAPP2_HUMAN	C	1411	ENSP00000356634:S1411C	ENSP00000356634:S1411C	S	+	2	0	PAPPA2	175001505	0.972000	0.33761	0.960000	0.40013	0.456000	0.32438	2.428000	0.44749	2.691000	0.91804	0.655000	0.94253	TCT		0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			31	660	0	0	0	0.002852	0	31	660				
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854255	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:178854254_178854255GG>CT	ENST00000367635.3	+	12	1286_1287	c.948_949GG>CT	c.(946-951)gtGGca>gtCTca	p.A317S	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A317S|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAAGTGTGGCAGCTGAAGG	0.446																																							uc001glz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(946-951)GTGGCA>GTCTCA		Ral GEF with PH domain and SH3 binding motif 2																																				SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178854254_178854255GG>CT	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	Exception_encountered	1.37:g.178854254_178854255delinsCT	ENSP00000356607:p.Ala317Ser					RALGPS2_uc010pnb.1_Missense_Mutation_p.A317S	p.A317S	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			12	1286_1287	+			317					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	DNP	ENST00000367635.3	37	c.948_949GG>CT	CCDS1325.1																																																																																				0.446	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		34	64	0	0	0	0.004672	0	34	64				
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:181689959A>C	ENST00000367573.2	+	15	1924	c.1924A>C	c.(1924-1926)Acc>Ccc	p.T642P	CACNA1E_ENST00000360108.3_Missense_Mutation_p.T642P|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T642P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T249P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T642P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T593P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.T642P(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTTTGATACCTTCCCTGC	0.428																																							uc001gow.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1924-1926)ACC>CCC		calcium channel, voltage-dependent, R type,							76.0	74.0	75.0					1																	181689959		1890	4124	6014	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181689959A>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1924A>C	1.37:g.181689959A>C	ENSP00000356545:p.Thr642Pro					CACNA1E_uc009wxs.2_Missense_Mutation_p.T549P	p.T642P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			15	2089	+			642			Extracellular (Potential).|II.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1924A>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.020125	0.93462	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	5.77	5.77	0.91146	.	0.088022	0.85682	D	0.000000	D	0.98953	0.9644	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.99698	1.1003	10	0.87932	D	0	.	15.7599	0.78070	1.0:0.0:0.0:0.0	.	642;642	Q15878-2;Q15878-3	.;.	P	642;642;593;593;249;642;642	ENSP00000356542:T642P;ENSP00000434814:T642P;ENSP00000350183:T593P;ENSP00000351101:T593P;ENSP00000356539:T249P;ENSP00000353222:T642P;ENSP00000356545:T642P	ENSP00000350183:T593P	T	+	1	0	CACNA1E	179956582	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	9.210000	0.95106	2.197000	0.70478	0.455000	0.32223	ACC		0.428	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	35	0	0	0	0.008871	0	12	35				
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:181759585G>T	ENST00000367573.2	+	44	5791	c.5791G>T	c.(5791-5793)Ggc>Tgc	p.G1931C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1912C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G1912C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1538C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1882C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1931C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1863C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1931					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.G1931C(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTCAGGAGTGGCCGGAGTGG	0.542																																							uc001gow.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5791-5793)GGC>TGC		calcium channel, voltage-dependent, R type,							74.0	82.0	79.0					1																	181759585		1963	4145	6108	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181759585G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5791G>T	1.37:g.181759585G>T	ENSP00000356545:p.Gly1931Cys					CACNA1E_uc009wxs.2_Missense_Mutation_p.G1819C|CACNA1E_uc009wxt.2_Missense_Mutation_p.G1157C	p.G1931C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			44	5956	+			1931			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5791G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841892	0.51057	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96365	-3.93;-3.92;-3.9;-3.92;-3.99;-3.9;-3.9	5.54	4.43	0.53597	.	0.584087	0.19508	N	0.112571	D	0.92525	0.7626	L	0.27053	0.805	0.34382	D	0.693178	P;P	0.48407	0.846;0.91	B;P	0.46758	0.443;0.526	D	0.92942	0.6373	10	0.66056	D	0.02	.	5.189	0.15199	0.1456:0.0:0.6485:0.2059	.	1912;1931	Q15878-2;Q15878-3	.;.	C	1931;1912;1882;1863;1538;1912;1931	ENSP00000356542:G1931C;ENSP00000434814:G1912C;ENSP00000350183:G1882C;ENSP00000351101:G1863C;ENSP00000356539:G1538C;ENSP00000353222:G1912C;ENSP00000356545:G1931C	ENSP00000350183:G1882C	G	+	1	0	CACNA1E	180026208	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.025000	0.41059	2.595000	0.87683	0.655000	0.94253	GGC		0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		15	67	1	0	7.87624e-14	0.00278	1.03107e-13	15	67				
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:183090909G>T	ENST00000258341.4	+	12	2299	c.2042G>T	c.(2041-2043)gGa>gTa	p.G681V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	681	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G681V(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CCTGGGCCTGGAGTCCCTGCA	0.493																																							uc001gpy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(2041-2043)GGA>GTA		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						145.0	130.0	135.0					1																	183090909		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183090909G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2042G>T	1.37:g.183090909G>T	ENSP00000258341:p.Gly681Val						p.G681V	NM_002293	NP_002284	P11047	LAMC1_HUMAN			12	2299	+			681			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2042G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790699	0.90367	.	.	ENSG00000135862	ENST00000258341	T	0.35973	1.28	5.13	5.13	0.70059	Laminin B type IV (2);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.67703	-0.5602	10	0.66056	D	0.02	.	18.665	0.91486	0.0:0.0:1.0:0.0	.	681	P11047	LAMC1_HUMAN	V	681	ENSP00000258341:G681V	ENSP00000258341:G681V	G	+	2	0	LAMC1	181357532	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.861000	0.92277	2.398000	0.81561	0.650000	0.86243	GGA		0.493	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		60	173	1	0	5.44642e-36	0.00361	8.8854e-36	60	173				
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:183617876G>A	ENST00000308641.4	-	2	312	c.41C>T	c.(40-42)aCa>aTa	p.T14I	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	14					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.T14I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTTACTATTGTTCCATGATT	0.378																																							uc001gqn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(40-42)ACA>ATA		apolipoprotein B							111.0	101.0	105.0					1																	183617876		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617876G>A	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.41C>T	1.37:g.183617876G>A	ENSP00000310622:p.Thr14Ile					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	p.T14I	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN			2	313	-			14					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.41C>T	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565091	0.65651	.	.	ENSG00000173627	ENST00000308641	T	0.20200	2.09	5.24	5.24	0.73138	.	0.000000	0.53938	D	0.000047	T	0.36276	0.0961	L	0.27053	0.805	0.44447	D	0.997376	D	0.89917	1.0	D	0.85130	0.997	T	0.22452	-1.0216	10	0.87932	D	0	-5.1587	18.441	0.90666	0.0:0.0:1.0:0.0	.	14	Q8WW27	ABEC4_HUMAN	I	14	ENSP00000310622:T14I	ENSP00000310622:T14I	T	-	2	0	APOBEC4	181884499	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.181000	0.71988	2.452000	0.82932	0.650000	0.86243	ACA		0.378	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		53	195	0	0	0	0.00361	0	53	195				
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:185892747A>G	ENST00000271588.4	+	8	1476	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q416R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	416					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Q416R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCTCTTCCAGAGAGTATCA	0.358																																							uc001grq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(22)|skin(1)	23						c.(1246-1248)CAG>CGG		hemicentin 1 precursor							95.0	96.0	96.0					1																	185892747		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185892747A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1247A>G	1.37:g.185892747A>G	ENSP00000271588:p.Gln416Arg						p.Q416R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			8	1476	+			416					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1247A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250322	0.80024	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66099	-0.18;-0.19	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	M	0.61703	1.905	0.58432	D	0.999999	D	0.69078	0.997	D	0.75484	0.986	T	0.71140	-0.4679	10	0.19590	T	0.45	.	15.1744	0.72899	1.0:0.0:0.0:0.0	.	416	Q96RW7	HMCN1_HUMAN	R	416	ENSP00000271588:Q416R;ENSP00000356462:Q416R	ENSP00000271588:Q416R	Q	+	2	0	HMCN1	184159370	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.848000	0.92172	1.992000	0.58205	0.482000	0.46254	CAG		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		37	95	0	0	0	0.007835	0	37	95				
BRINP3	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	C	G	rs371092583		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:190067423C>G	ENST00000367462.3	-	8	2257	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	BRINP3_ENST00000534846.1_Missense_Mutation_p.D574H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	676					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.D676H(2)									GCTTCAGGGTCAAAGTGCATG	0.458																																							uc001gse.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2026-2028)GAC>CAC		family with sequence similarity 5, member C							112.0	112.0	112.0					1																	190067423		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067423C>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2026G>C	1.37:g.190067423C>G	ENSP00000356432:p.Asp676His					FAM5C_uc010pot.1_Missense_Mutation_p.D574H	p.D676H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2258	-	Prostate(682;0.198)		676					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2026G>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701953	0.68501	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.23552	2.15;1.9	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	T	0.50566	-0.8813	10	0.87932	D	0	.	17.3745	0.87387	0.0:1.0:0.0:0.0	.	574;676	B7Z260;Q76B58	.;FAM5C_HUMAN	H	676;574	ENSP00000356432:D676H;ENSP00000438022:D574H	ENSP00000356432:D676H	D	-	1	0	FAM5C	188334046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.734000	0.84928	2.704000	0.92352	0.650000	0.86243	GAC		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		58	270	0	0	0	0.00361	0	58	270				
BRINP3	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:190250721C>A	ENST00000367462.3	-	3	627	c.396G>T	c.(394-396)ggG>ggT	p.G132G	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	132	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.G132G(2)									AGAAATGTGTCCCATATTTCT	0.453																																							uc001gse.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(394-396)GGG>GGT		family with sequence similarity 5, member C							91.0	90.0	90.0					1																	190250721		2203	4299	6502	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190250721C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.396G>T	1.37:g.190250721C>A						FAM5C_uc010pot.1_Intron	p.G132G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	628	-	Prostate(682;0.198)		132					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.396G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440682	0.63067	.	.	ENSG00000162670	ENST00000445957	T	0.50813	0.73	5.67	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55995	-0.8052	7	0.72032	D	0.01	.	9.7733	0.40603	0.0:0.7795:0.0:0.2205	.	.	.	.	V	82	ENSP00000393441:G82V	ENSP00000393441:G82V	G	-	2	0	FAM5C	188517344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.276000	0.33156	0.344000	0.23847	0.585000	0.79938	GGA		0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		38	139	1	0	4.67007e-22	0.00874	6.87149e-22	38	139				
CDC73	79577	broad.mit.edu	37	1	193111176	193111176	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:193111176A>G	ENST00000367435.3	+	7	893	c.709A>G	c.(709-711)Atc>Gtc	p.I237V		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	237	Interaction with CTNNB1.|Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.I237V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGAACAACTATCTTACAAAG	0.403																																							uc001gtb.2		NA																	1	Substitution - Missense(1)		lung(1)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(709-711)ATC>GTC		parafibromin							82.0	76.0	78.0					1																	193111176		2203	4300	6503	SO:0001583	missense	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111176A>G	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.709A>G	1.37:g.193111176A>G	ENSP00000356405:p.Ile237Val						p.I237V	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			7	952	+			237					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.709A>G	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	5.821	0.335774	0.11013	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.62232	0.04	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	N	0.13098	0.295	0.80722	D	1	B	0.19073	0.033	B	0.23275	0.045	T	0.40850	-0.9541	10	0.02654	T	1	-12.0286	16.1839	0.81934	1.0:0.0:0.0:0.0	.	237	Q6P1J9	CDC73_HUMAN	V	237	ENSP00000356405:I237V	ENSP00000356405:I237V	I	+	1	0	CDC73	191377799	1.000000	0.71417	0.936000	0.37596	0.332000	0.28634	9.109000	0.94291	2.222000	0.72286	0.533000	0.62120	ATC		0.403	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		14	200	0	0	0	0.010504	0	14	200				
CFH	3075	broad.mit.edu	37	1	196654266	196654266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196654266A>C	ENST00000359637.2	+	6	733	c.671A>C	c.(670-672)gAt>gCt	p.D224A	CFH_ENST00000367429.4_Missense_Mutation_p.D288A|CFH_ENST00000439155.2_Missense_Mutation_p.D288A			P08603	CFAH_HUMAN	complement factor H	288	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.		Missing (in CFHD; with membranoproliferative glomerulonephritis; affects binding of factor H to C3b and shows defective complement regulation). {ECO:0000269|PubMed:16612335}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAACTGGAGATGAAATCACG	0.383																																							uc001gtj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(862-864)GAT>GCT		complement factor H isoform a precursor							122.0	113.0	116.0					1																	196654266		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196654266A>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.671A>C	1.37:g.196654266A>C	ENSP00000352658:p.Asp224Ala					CFH_uc001gti.3_Missense_Mutation_p.D288A|CFH_uc009wyw.2_Missense_Mutation_p.D288A|CFH_uc009wyx.2_Missense_Mutation_p.D224A	p.D288A	NM_000186	NP_000177	P08603	CFAH_HUMAN			7	1103	+			288			Sushi 5.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.863A>C		.	.	.	.	.	.	.	.	.	.	A	13.15	2.152367	0.38021	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.62941	-0.01;-0.01;-0.01	5.11	5.11	0.69529	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73984	0.3657	M	0.70787	2.145	0.34804	D	0.737056	B;P;D;B	0.76494	0.235;0.889;0.999;0.061	B;P;D;B	0.66084	0.234;0.61;0.941;0.077	T	0.79647	-0.1716	9	0.32370	T	0.25	.	11.2877	0.49230	1.0:0.0:0.0:0.0	.	224;288;288;288	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	A	288;288;288;224	ENSP00000356399:D288A;ENSP00000402656:D288A;ENSP00000352658:D224A	ENSP00000352658:D224A	D	+	2	0	CFH	194920889	0.106000	0.21978	0.453000	0.27007	0.453000	0.32348	2.304000	0.43655	1.911000	0.55334	0.477000	0.44152	GAT		0.383	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		15	749	0	0	0	0.004007	0	15	749				
CFHR2	3080	broad.mit.edu	37	1	196871741	196871741	+	Intron	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196871741C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000367416.2_Nonsense_Mutation_p.C83*|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C84*			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.C83*(2)|p.C84*(2)		large_intestine(2)|ovary(1)|skin(3)	6						CGGTCCCATGCCTCAGTAAGT	0.348																																							uc001gto.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(1)|pancreas(1)|skin(1)	3						c.(250-252)TGC>TGA		complement factor H-related 4 precursor							99.0	97.0	98.0					1																	196871741		2114	4281	6395	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196871741C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46844C>A	1.37:g.196871741C>A						CFHR4_uc009wyy.2_Nonsense_Mutation_p.C83*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.C84*	p.C84*	NM_006684	NP_006675	Q92496	FHR4_HUMAN			2	321	+			84			Sushi 1.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367421.3	37	c.252C>A		.	.	.	.	.	.	.	.	.	.	.	14.83	2.654008	0.47362	.	.	ENSG00000134365	ENST00000367416;ENST00000251424	.	.	.	3.1	1.14	0.20703	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4545	0.11637	0.0:0.675:0.0:0.325	.	.	.	.	X	83;84	.	ENSP00000251424:C84X	C	+	3	2	CFHR4	195138364	0.383000	0.25156	0.067000	0.19924	0.031000	0.12232	0.192000	0.17096	0.591000	0.29711	0.195000	0.17529	TGC		0.348	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		101	237	1	0	3.20437e-51	0.00361	5.61804e-51	101	237				
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196967432C>A	ENST00000256785.4	+	7	1254	c.1145C>A	c.(1144-1146)aCa>aAa	p.T382K	CFHR5_ENST00000367414.5_Missense_Mutation_p.T406K			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	382	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.T382K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAGACTGCACAGGTAAGATT	0.294																																							uc001gts.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(1144-1146)ACA>AAA		complement factor H-related 5 precursor							40.0	39.0	39.0					1																	196967432		2203	4297	6500	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196967432C>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1145C>A	1.37:g.196967432C>A	ENSP00000256785:p.Thr382Lys						p.T382K	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			7	1273	+			382			Sushi 6.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1145C>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	5.686	0.311087	0.10789	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.31247	1.5;1.56	3.28	-3.72	0.04411	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.16599	0.0399	N	0.25890	0.77	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.22556	-1.0213	9	0.46703	T	0.11	.	3.4411	0.07463	0.4995:0.2733:0.0:0.2272	.	382	Q9BXR6	FHR5_HUMAN	K	406;382	ENSP00000356384:T406K;ENSP00000256785:T382K	ENSP00000256785:T382K	T	+	2	0	CFHR5	195234055	0.232000	0.23762	0.005000	0.12908	0.148000	0.21650	-1.562000	0.02156	-0.982000	0.03515	0.289000	0.19496	ACA		0.294	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		13	68	1	0	3.45872e-05	0.004007	3.83513e-05	13	68				
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:197070066T>C	ENST00000367409.4	-	18	8571	c.8315A>G	c.(8314-8316)cAa>cGa	p.Q2772R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2772					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q2772R(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGTGCAGATTGGTTAACAAT	0.383																																							uc001gtu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(8314-8316)CAA>CGA		asp (abnormal spindle)-like, microcephaly							112.0	112.0	112.0					1																	197070066		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070066T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8315A>G	1.37:g.197070066T>C	ENSP00000356379:p.Gln2772Arg					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q620R	p.Q2772R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8572	-			2772					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8315A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553381	0.27739	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.60548	0.18	4.66	-0.992	0.10232	.	0.571602	0.16922	N	0.194033	T	0.51432	0.1674	N	0.24115	0.695	0.80722	D	1	D;B	0.55385	0.971;0.02	P;B	0.60682	0.878;0.016	T	0.47355	-0.9124	10	0.38643	T	0.18	.	5.9014	0.18967	0.0:0.1436:0.2587:0.5977	.	758;2772	E7EQ84;Q8IZT6	.;ASPM_HUMAN	R	2772;758	ENSP00000356379:Q2772R	ENSP00000356376:Q758R	Q	-	2	0	ASPM	195336689	0.929000	0.31497	0.001000	0.08648	0.015000	0.08874	1.426000	0.34870	-0.393000	0.07739	-0.609000	0.04063	CAA		0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		34	257	0	0	0	0.00623	0	34	257				
CRB1	23418	broad.mit.edu	37	1	197396677	197396677	+	Missense_Mutation	SNP	T	T	C	rs62636267		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:197396677T>C	ENST00000367400.3	+	7	2357	c.2222T>C	c.(2221-2223)aTg>aCg	p.M741T	CRB1_ENST00000367397.1_Missense_Mutation_p.M122T|CRB1_ENST00000535699.1_Missense_Mutation_p.M672T|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.M222T|CRB1_ENST00000367399.2_Missense_Mutation_p.M629T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	741	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		M -> T (in LCA8 and early-onset retinal dystrophy). {ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:22065545}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCCTCTCCATGTTTGTCCGA	0.468																																							uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9	GRCh37	CM040713	CRB1	M	rs62636267	c.(2221-2223)ATG>ACG		crumbs homolog 1 precursor							86.0	76.0	80.0					1																	197396677		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396677T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2222T>C	1.37:g.197396677T>C	ENSP00000356370:p.Met741Thr					CRB1_uc010poz.1_Missense_Mutation_p.M672T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.M629T|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.M222T|CRB1_uc001gub.1_Missense_Mutation_p.M390T	p.M741T	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2357	+			741		M -> T (in LCA8).	Extracellular (Potential).|Laminin G-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2222T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103294	0.37145	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.75	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	D	0.87253	0.6131	M	0.79805	2.47	0.39789	D	0.972405	D;D;B;P	0.58970	0.96;0.984;0.091;0.915	P;D;B;B	0.66716	0.675;0.946;0.039;0.395	D	0.85544	0.1217	9	0.28530	T	0.3	.	8.8786	0.35360	0.0:0.1429:0.0:0.8571	rs62636267	672;629;390;741	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	T	672;741;629;222;122;390	ENSP00000438786:M672T;ENSP00000356370:M741T;ENSP00000356369:M629T;ENSP00000444556:M222T;ENSP00000356367:M122T	ENSP00000356367:M122T	M	+	2	0	CRB1	195663300	1.000000	0.71417	0.996000	0.52242	0.180000	0.23129	5.776000	0.68924	1.003000	0.39130	0.528000	0.53228	ATG		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		4	109	0	0	0	0.009096	0	4	109				
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:197890482C>A	ENST00000367387.4	+	3	851	c.426C>A	c.(424-426)gcC>gcA	p.A142A	LHX9_ENST00000367390.3_Silent_p.A133A|LHX9_ENST00000561173.1_Silent_p.A148A|LHX9_ENST00000367391.1_Silent_p.A133A|LHX9_ENST00000337020.2_Silent_p.A142A	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	142	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A133A(2)|p.A142A(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCATTTCCGCCTCGGAGATGG	0.572																																							uc001guk.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(424-426)GCC>GCA		LIM homeobox 9 isoform 1							58.0	57.0	58.0					1																	197890482		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890482C>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.426C>A	1.37:g.197890482C>A						LHX9_uc001gui.1_Silent_p.A133A|LHX9_uc001guj.1_Silent_p.A148A	p.A142A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	863	+			142			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.426C>A	CCDS1393.1																																																																																				0.572	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		12	72	1	0	2.61681e-11	0.00245	3.2597e-11	12	72				
CACNA1S	779	broad.mit.edu	37	1	201029820	201029820	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:201029820A>G	ENST00000362061.3	-	26	3606	c.3380T>C	c.(3379-3381)cTc>cCc	p.L1127P	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1127P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1127					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1127P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCATGATGAGGGCAAACAT	0.537																																							uc001gvv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3379-3381)CTC>CCC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						243.0	226.0	232.0					1																	201029820		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029820A>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3380T>C	1.37:g.201029820A>G	ENSP00000355192:p.Leu1127Pro						p.L1127P	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			26	3607	-			1127			IV.|Helical; Name=S1 of repeat IV; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3380T>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239361	0.79800	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97924	-4.61;-4.61	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99474	1.0946	10	0.87932	D	0	.	14.9443	0.71016	1.0:0.0:0.0:0.0	.	1127	Q13698	CAC1S_HUMAN	P	1127	ENSP00000355192:L1127P;ENSP00000356307:L1127P	ENSP00000355192:L1127P	L	-	2	0	CACNA1S	199296443	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.299000	0.96137	2.057000	0.61298	0.533000	0.62120	CTC		0.537	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		9	390	0	0	0	0.000978	0	9	390				
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:202398051G>T	ENST00000608999.1	+	6	1068	c.915G>T	c.(913-915)caG>caT	p.Q305H	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q305H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	305					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.Q305H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAGAAGCAGAATGTGGTGA	0.453																																							uc001gya.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(913-915)CAG>CAT		protein phosphatase 1, regulatory (inhibitor)							95.0	89.0	91.0					1																	202398051		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202398051G>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.915G>T	1.37:g.202398051G>T	ENSP00000476755:p.Gln305His					PPP1R12B_uc001gxy.2_Missense_Mutation_p.Q305H|PPP1R12B_uc009xad.1_Missense_Mutation_p.Q111H|PPP1R12B_uc009xae.1_Missense_Mutation_p.Q305H|PPP1R12B_uc001gxz.1_Missense_Mutation_p.Q305H	p.Q305H	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	1059	+			305					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.915G>T	CCDS1426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.79|18.79	3.698256|3.698256	0.68386|0.68386	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000466968|ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	.|T;T;T;T	.|0.72615	.|0.77;0.79;-0.67;-0.59	5.67|5.67	4.75|4.75	0.60458|0.60458	.|Ankyrin repeat-containing domain (1);	.|0.099964	.|0.44285	.|D	.|0.000465	.|D	.|0.82852	.|0.5127	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.997	.|D;D;D;D	.|0.85130	.|0.988;0.972;0.997;0.982	.|D	.|0.83827	.|0.0250	.|10	.|0.66056	.|D	.|0.02	.|.	8.4903|8.4903	0.33095|0.33095	0.2348:0.0:0.7652:0.0|0.2348:0.0:0.7652:0.0	.|.	.|305;305;305;305	.|O60237-2;O60237;F8W8M3;Q2TAI8	.|.;MYPT2_HUMAN;.;.	X|H	101|305	.|ENSP00000384496:Q305H;ENSP00000337897:Q305H;ENSP00000417159:Q305H;ENSP00000349206:Q305H	.|ENSP00000337897:Q305H	E|Q	+|+	1|3	0|2	PPP1R12B|PPP1R12B	200664674|200664674	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.951000|0.951000	0.60555|0.60555	1.671000|1.671000	0.37513|0.37513	1.359000|1.359000	0.45940|0.45940	0.585000|0.585000	0.79938|0.79938	GAA|CAG		0.453	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		17	88	1	0	6.33239e-15	0.010504	8.40169e-15	17	88				
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:203452395C>A	ENST00000343110.2	+	2	210	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647																																							uc001gzs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(82-84)CCC>CAC		proline arginine-rich end leucine-rich repeat							48.0	56.0	53.0					1																	203452395		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452395C>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.83C>A	1.37:g.203452395C>A	ENSP00000343924:p.Pro28His					PRELP_uc001gzt.2_Missense_Mutation_p.P28H	p.P28H	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	283	+			28					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.83C>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	6.833	0.522893	0.13066	.	.	ENSG00000188783	ENST00000343110	T	0.41400	1.0	5.09	3.07	0.35406	.	2.544810	0.01700	N	0.027129	T	0.28200	0.0696	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	B	0.43916	0.436	T	0.26395	-1.0104	10	0.33141	T	0.24	1.9999	6.3911	0.21587	0.0:0.644:0.1679:0.1881	.	28	P51888	PRELP_HUMAN	H	28	ENSP00000343924:P28H	ENSP00000343924:P28H	P	+	2	0	PRELP	201719018	0.024000	0.19004	0.100000	0.21137	0.547000	0.35210	1.594000	0.36697	1.143000	0.42306	0.462000	0.41574	CCC		0.647	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		18	46	1	0	7.26314e-15	0.007291	9.58948e-15	18	46				
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205030382C>A	ENST00000331830.4	+	8	1091	c.807C>A	c.(805-807)ccC>ccA	p.P269P	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	269	Ig-like C2-type 3.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.P269P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTGTCCCCCGGATCAAGT	0.652											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(183;2548 2817 37099 41192)	Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(805-807)CCC>CCA		contactin 2 precursor							80.0	62.0	68.0					1																	205030382		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205030382C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.807C>A	1.37:g.205030382C>A			OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2149	CNTN2_uc001hbq.1_Silent_p.P160P|CNTN2_uc009xbi.2_Silent_p.P160P|CNTN2_uc001hbs.2_Silent_p.P57P	p.P269P	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		8	1076	+	all_cancers(21;0.144)|Breast(84;0.0437)		269			Ig-like C2-type 3.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.807C>A	CCDS1449.1																																																																																				0.652	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		15	34	1	0	6.49762e-13	0.006122	8.38403e-13	15	34				
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205042265C>A	ENST00000331830.4	+	22	3198	c.2914C>A	c.(2914-2916)Cca>Aca	p.P972T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	972	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.P972T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATAGAAATCCCAGTGCCTGA	0.557																																					Melanoma(183;2548 2817 37099 41192)	Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2914-2916)CCA>ACA		contactin 2 precursor							85.0	75.0	78.0					1																	205042265		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042265C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2914C>A	1.37:g.205042265C>A	ENSP00000330633:p.Pro972Thr					CNTN2_uc001hbs.2_Missense_Mutation_p.P760T	p.P972T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		22	3183	+	all_cancers(21;0.144)|Breast(84;0.0437)		972			Fibronectin type-III 4.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2914C>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264764	0.23136	.	.	ENSG00000184144	ENST00000331830	T	0.14766	2.48	5.29	1.05	0.20165	Fibronectin, type III (2);	0.629025	0.13877	N	0.356608	T	0.08313	0.0207	L	0.31476	0.935	0.21984	N	0.999438	B	0.12630	0.006	B	0.20577	0.03	T	0.42849	-0.9427	10	0.07175	T	0.84	.	8.4473	0.32849	0.0884:0.5933:0.2393:0.0789	.	972	Q02246	CNTN2_HUMAN	T	972	ENSP00000330633:P972T	ENSP00000330633:P972T	P	+	1	0	CNTN2	203308888	0.501000	0.26099	0.026000	0.17262	0.602000	0.36980	1.052000	0.30429	0.323000	0.23307	0.655000	0.94253	CCA		0.557	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		15	85	1	0	1.49906e-05	0.00245	1.6725e-05	15	85				
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:206611329C>T	ENST00000414007.1	+	12	1229	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.A410V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACCCCCTGGCTGGGGACCAG	0.542																																							uc001hdy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1387-1389)GCT>GTT		SLIT-ROBO Rho GTPase activating protein 2							90.0	92.0	92.0					1																	206611329		1895	4116	6011	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206611329C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1229C>T	1.37:g.206611329C>T	ENSP00000390898:p.Ala410Val					SRGAP2_uc010prt.1_Missense_Mutation_p.A386V|SRGAP2_uc001hdx.2_Missense_Mutation_p.A463V|SRGAP2_uc010pru.1_Missense_Mutation_p.A386V|SRGAP2_uc010prv.1_Missense_Mutation_p.A387V	p.A463V	NM_015326	NP_056141	O75044	FNBP2_HUMAN			13	1721	+	Breast(84;0.137)		550			Rho-GAP.			Missense_Mutation	SNP	ENST00000414007.1	37	c.1388C>T		.	.	.	.	.	.	.	.	.	.	C	10.95	1.494740	0.26774	.	.	ENSG00000163486	ENST00000414359;ENST00000414007;ENST00000439126	T;T	0.18657	2.2;2.2	6.03	6.03	0.97812	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.052669	0.85682	D	0.000000	T	0.14960	0.0361	.	.	.	0.80722	D	1.000000	P;B	0.34462	0.454;0.003	B;B	0.31016	0.123;0.034	T	0.20739	-1.0266	8	0.18276	T	0.48	.	15.2928	0.73879	0.14:0.86:0.0:0.0	.	397;550	B4DDU0;O75044	.;FNBP2_HUMAN	V	463;410;164	ENSP00000390898:A410V;ENSP00000403036:A164V	ENSP00000390898:A410V	A	+	2	0	SRGAP2	204677952	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.833000	0.62766	2.861000	0.98227	0.655000	0.94253	GCT		0.542	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		56	186	0	0	0	0.00361	0	56	186				
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:206634713G>T	ENST00000414007.1	+	19	2744	c.2744G>T	c.(2743-2745)gGt>gTt	p.G915V				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.G915V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAGCCCTGGTGTCAACTCA	0.502																																							uc001hdy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2902-2904)GGT>GTT		SLIT-ROBO Rho GTPase activating protein 2							145.0	150.0	149.0					1																	206634713		1988	4155	6143	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206634713G>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2744G>T	1.37:g.206634713G>T	ENSP00000390898:p.Gly915Val					SRGAP2_uc010pru.1_Missense_Mutation_p.G891V	p.G968V	NM_015326	NP_056141	O75044	FNBP2_HUMAN			20	3236	+	Breast(84;0.137)		1055						Missense_Mutation	SNP	ENST00000414007.1	37	c.2903G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.05|12.05	1.822034|1.822034	0.32237|0.32237	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414007|ENST00000295713	T|.	0.09350|.	2.99|.	5.66|5.66	4.75|4.75	0.60458|0.60458	.|.	0.126187|.	0.52532|.	D|.	0.000074|.	T|T	0.70842|0.70842	0.3270|0.3270	.|.	.|.	.|.	0.38597|.	D|.	0.950560|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.74811|0.74811	-0.3538|-0.3538	6|3	0.87932|.	D|.	0|.	.|.	15.7186|15.7186	0.77688|0.77688	0.0:0.2866:0.7134:0.0|0.0:0.2866:0.7134:0.0	.|.	.|.	.|.	.|.	V|C	915|968	ENSP00000390898:G915V|.	ENSP00000390898:G915V|.	G|W	+|+	2|3	0|0	SRGAP2|SRGAP2	204701336|204701336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.245000|3.245000	0.51407|0.51407	1.524000|1.524000	0.49035|0.49035	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.502	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		70	165	1	0	2.0464e-58	0.00361	3.67739e-58	70	165				
C1orf116	79098	broad.mit.edu	37	1	207195442	207195442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:207195442G>T	ENST00000359470.5	-	4	1916	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	C1orf116_ENST00000461135.2_Missense_Mutation_p.S310Y	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	556						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S556Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGGCGCTTGGAGCTCTGCTC	0.597																																							uc001hfd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1666-1668)TCC>TAC		specifically androgen-regulated protein isoform							45.0	46.0	45.0					1																	207195442		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195442G>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1667C>A	1.37:g.207195442G>T	ENSP00000352447:p.Ser556Tyr					C1orf116_uc009xcb.1_Missense_Mutation_p.S310Y	p.S556Y	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			4	1926	-	Prostate(682;0.19)		556					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1667C>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317388	0.60524	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.10192	2.9;2.9	5.24	4.27	0.50696	.	0.889357	0.09867	N	0.745454	T	0.20251	0.0487	L	0.55481	1.735	0.09310	N	1	D	0.54964	0.969	P	0.54100	0.742	T	0.11155	-1.0599	10	0.72032	D	0.01	-10.336	8.1922	0.31374	0.0:0.1842:0.6505:0.1653	.	556	Q9BW04	SARG_HUMAN	Y	556;310	ENSP00000352447:S556Y;ENSP00000436862:S310Y	ENSP00000352447:S556Y	S	-	2	0	C1orf116	205262065	0.005000	0.15991	0.053000	0.19242	0.997000	0.91878	0.656000	0.24948	2.450000	0.82876	0.655000	0.94253	TCC		0.597	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		7	54	1	0	0.000274275	0.004482	0.000298005	7	54				
KCNH1	3756	broad.mit.edu	37	1	211256166	211256166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:211256166C>A	ENST00000271751.4	-	5	541	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	KCNH1_ENST00000367007.4_Missense_Mutation_p.V172L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	172					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.V172L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTTTTTGCACGCTTGGAGCC	0.562																																							uc001hib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(514-516)GTG>TTG		potassium voltage-gated channel, subfamily H,							116.0	95.0	102.0					1																	211256166		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211256166C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.514G>T	1.37:g.211256166C>A	ENSP00000271751:p.Val172Leu					KCNH1_uc001hic.2_Missense_Mutation_p.V172L	p.V172L	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	5	684	-			172			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.514G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094914	0.36952	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98666	-5.01;-5.06	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	N	0.02181	-0.65	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	D	0.88680	0.3201	10	0.02654	T	1	.	11.1499	0.48453	0.0:0.9159:0.0:0.0841	.	172;172	Q14CL3;O95259	.;KCNH1_HUMAN	L	172	ENSP00000271751:V172L;ENSP00000355974:V172L	ENSP00000271751:V172L	V	-	1	0	KCNH1	209322789	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	7.071000	0.76770	2.477000	0.83638	0.561000	0.74099	GTG		0.562	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		130	300	1	0	6.47883e-55	0.00361	1.15084e-54	130	300				
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	G	C	rs375751467		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:215759874G>C	ENST00000259154.4	+	9	957	c.663G>C	c.(661-663)acG>acC	p.T221T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	221					protein homooligomerization (GO:0051260)			p.T221T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGTGTTTACGAGCCCATATT	0.443																																							uc001hks.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(661-663)ACG>ACC		potassium channel tetramerisation domain							153.0	146.0	148.0					1																	215759874		2203	4300	6503	SO:0001819	synonymous_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215759874G>C	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.663G>C	1.37:g.215759874G>C						KCTD3_uc001hkt.2_Silent_p.T221T|KCTD3_uc010pub.1_Silent_p.T119T|KCTD3_uc009xdn.2_5'UTR	p.T221T	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	9	957	+			221					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	ENST00000259154.4	37	c.663G>C	CCDS1515.1																																																																																				0.443	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		95	407	0	0	0	0.00361	0	95	407				
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216051129C>T	ENST00000307340.3	-	43	9038	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	USH2A_ENST00000366943.2_Silent_p.Q2884Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2884	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q2884Q(2)		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)		CATAAAGCCACTGAGTTCCTG	0.383										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8650-8652)CAG>CAA		usherin isoform B							209.0	222.0	218.0					1																	216051129		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216051129C>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.8652G>A	1.37:g.216051129C>T		HNSCC(13;0.011)					p.Q2884Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	43	9039	-			2884			Extracellular (Potential).|Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8652G>A	CCDS31025.1																																																																																				0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		131	390	0	0	0	0.00361	0	131	390				
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216143975C>A	ENST00000307340.3	-	36	7335	c.6949G>T	c.(6949-6951)Ggc>Tgc	p.G2317C	USH2A_ENST00000366943.2_Missense_Mutation_p.G2317C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2317	Fibronectin type-III 9. {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.G2317C(2)		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)		ACCAGTGGGCCCAGAGCACAA	0.453										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6949-6951)GGC>TGC		usherin isoform B							80.0	77.0	78.0					1																	216143975		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.chr1:216143975C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6949G>T	1.37:g.216143975C>A	ENSP00000305941:p.Gly2317Cys	HNSCC(13;0.011)					p.G2317C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7336	-			2317			Fibronectin type-III 9.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6949G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890603	0.72524	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.81	5.81	0.92471	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000405	T	0.75184	0.3815	M	0.88906	2.99	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	T	0.76661	-0.2877	10	0.41790	T	0.15	.	13.3049	0.60347	0.0:0.9281:0.0:0.0719	.	2317	O75445	USH2A_HUMAN	C	2317	ENSP00000305941:G2317C;ENSP00000355910:G2317C	ENSP00000305941:G2317C	G	-	1	0	USH2A	214210598	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.571000	0.60879	2.746000	0.94184	0.591000	0.81541	GGC		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		72	142	1	0	9.08522e-28	0.00361	1.40574e-27	72	142				
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216496873G>T	ENST00000307340.3	-	8	1879	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	USH2A_ENST00000366943.2_Missense_Mutation_p.T498N|USH2A_ENST00000366942.3_Missense_Mutation_p.T498N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	498	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T498N(2)		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)		GTTAACAGCAGTCTCAGTTGT	0.368										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1492-1494)ACT>AAT		usherin isoform B							159.0	156.0	157.0					1																	216496873		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.chr1:216496873G>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.1493C>A	1.37:g.216496873G>T	ENSP00000305941:p.Thr498Asn	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.T498N	p.T498N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1880	-			498			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1493C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	2.869	-0.234364	0.05983	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.18960	2.64;2.63;2.18	5.5	0.633	0.17712	Laminin, N-terminal (3);	0.717933	0.11851	N	0.523319	T	0.14056	0.0340	L	0.48362	1.52	0.09310	N	1	B;B	0.29301	0.225;0.241	B;B	0.27076	0.076;0.062	T	0.35574	-0.9783	10	0.13470	T	0.59	.	4.1657	0.10305	0.0914:0.1236:0.5153:0.2697	.	498;498	O75445-2;O75445	.;USH2A_HUMAN	N	498	ENSP00000305941:T498N;ENSP00000355910:T498N;ENSP00000355909:T498N	ENSP00000305941:T498N	T	-	2	0	USH2A	214563496	0.008000	0.16893	0.000000	0.03702	0.417000	0.31264	1.713000	0.37951	-0.155000	0.11098	0.655000	0.94253	ACT		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		117	318	1	0	5.787e-82	0.00361	1.09265e-81	117	318				
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:220752848G>A	ENST00000366917.4	+	2	470	c.204G>A	c.(202-204)aaG>aaA	p.K68K	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366918.4_Silent_p.K68K					MAP/microtubule affinity-regulating kinase 1									p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433																																							uc001hmn.3		NA																	3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(2)|large_intestine(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(202-204)AAG>AAA		MAP/microtubule affinity-regulating kinase 1							93.0	88.0	89.0					1																	220752848		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220752848G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.204G>A	1.37:g.220752848G>A						MARK1_uc001hml.2_Silent_p.K68K|MARK1_uc009xdw.2_Silent_p.K68K|MARK1_uc010pun.1_Silent_p.K68K|MARK1_uc001hmm.3_Silent_p.K68K	p.K68K	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	2	801	+			68			ATP (By similarity).|Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.204G>A	CCDS31029.2																																																																																				0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			11	228	0	0	0	0.003163	0	11	228				
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:228523918C>A	ENST00000422127.1	+	64	16528	c.16484C>A	c.(16483-16485)tCa>tAa	p.S5495*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S3129*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.S6452*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S2614*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5495					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S6077*(2)|p.S6207*(2)|p.S5495*(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCCATCTCAGCACAGGGG	0.572																																							uc009xez.1		NA																	6	Substitution - Nonsense(6)		lung(6)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(16483-16485)TCA>TAA		obscurin, cytoskeletal calmodulin and							122.0	119.0	120.0					1																	228523918		2013	4198	6211	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228523918C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16484C>A	1.37:g.228523918C>A	ENSP00000409493:p.Ser5495*					OBSCN_uc001hsn.2_Nonsense_Mutation_p.S5495*|OBSCN_uc001hsr.1_Nonsense_Mutation_p.S123*	p.S5495*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			64	16528	+		Prostate(94;0.0405)	5495					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.16484C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	63	78.812865	0.99993	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	4.21	3.29	0.37713	.	0.627265	0.15447	N	0.261879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0782	0.30729	0.0:0.8883:0.0:0.1117	.	.	.	.	X	5495;5495;3129;2614	.	ENSP00000284548:S5495X	S	+	2	0	OBSCN	226590541	0.004000	0.15560	0.011000	0.14972	0.005000	0.04900	0.826000	0.27407	1.138000	0.42230	0.462000	0.41574	TCA		0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	49	1	0	4.96729e-08	0.008871	5.80592e-08	16	49				
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:235973688T>C	ENST00000389794.3	-	5	604	c.430A>G	c.(430-432)Aga>Gga	p.R144G	LYST_ENST00000536965.1_Missense_Mutation_p.R144G|LYST_ENST00000389793.2_Missense_Mutation_p.R144G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R144G(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCTGTCGTCTGCTTTTTCGA	0.398																																							uc001hxj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(430-432)AGA>GGA		lysosomal trafficking regulator							118.0	118.0	118.0					1																	235973688		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973688T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.430A>G	1.37:g.235973688T>C	ENSP00000374444:p.Arg144Gly					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R144G	p.R144G	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	605	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	144					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.430A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559674	0.27827	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.14144	2.53;2.53;2.53	5.62	5.62	0.85841	.	0.190204	0.44285	D	0.000466	T	0.27349	0.0671	L	0.56769	1.78	0.42202	D	0.991772	D;B	0.65815	0.995;0.019	D;B	0.65323	0.934;0.012	T	0.03077	-1.1075	10	0.49607	T	0.09	.	6.8874	0.24209	0.0:0.0816:0.1534:0.7651	.	144;144	Q99698-3;Q99698	.;LYST_HUMAN	G	144	ENSP00000374444:R144G;ENSP00000374443:R144G;ENSP00000438315:R144G	ENSP00000374443:R144G	R	-	1	2	LYST	234040311	0.972000	0.33761	0.998000	0.56505	0.919000	0.55068	2.838000	0.48199	2.146000	0.66826	0.460000	0.39030	AGA		0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			26	276	0	0	0	0.002445	0	26	276				
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:236195859G>T	ENST00000264187.6	-	6	1461	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NID1_ENST00000366595.3_Missense_Mutation_p.S460Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	460	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.S460Y(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TACTACGTAAGAGTGGAGGTC	0.552																																							uc001hxo.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)	2						c.(1378-1380)TCT>TAT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						92.0	81.0	85.0					1																	236195859		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236195859G>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1379C>A	1.37:g.236195859G>T	ENSP00000264187:p.Ser460Tyr					NID1_uc009xgd.2_Missense_Mutation_p.S460Y	p.S460Y	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		6	1481	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	460			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1379C>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011324	0.93346	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.32988	1.43;1.43	5.87	5.87	0.94306	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63976	-0.6515	10	0.87932	D	0	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	460;460	P14543-2;P14543	.;NID1_HUMAN	Y	460	ENSP00000264187:S460Y;ENSP00000355554:S460Y	ENSP00000264187:S460Y	S	-	2	0	NID1	234262482	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	TCT		0.552	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		27	63	1	0	1.13719e-10	0.008361	1.39723e-10	27	63				
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:236201439C>A	ENST00000264187.6	-	5	1332	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	NID1_ENST00000366595.3_Missense_Mutation_p.G417V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	417	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.G417V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCCCGTATAGCCAGCGACACA	0.542																																							uc001hxo.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)	2						c.(1249-1251)GGC>GTC		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						101.0	95.0	97.0					1																	236201439		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236201439C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1250G>T	1.37:g.236201439C>A	ENSP00000264187:p.Gly417Val					NID1_uc009xgd.2_Missense_Mutation_p.G417V	p.G417V	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		5	1352	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	417			EGF-like 1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1250G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236764	0.79800	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.92965	-3.14;-3.14	5.52	4.6	0.57074	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.134384	0.64402	D	0.000002	D	0.97059	0.9039	H	0.96460	3.825	0.80722	D	1	D;D	0.69078	0.997;0.961	D;P	0.69479	0.964;0.824	D	0.97735	1.0205	10	0.72032	D	0.01	.	13.3745	0.60730	0.0:0.9233:0.0:0.0767	.	417;417	P14543-2;P14543	.;NID1_HUMAN	V	417	ENSP00000264187:G417V;ENSP00000355554:G417V	ENSP00000264187:G417V	G	-	2	0	NID1	234268062	1.000000	0.71417	0.949000	0.38748	0.718000	0.41266	5.766000	0.68843	1.312000	0.45043	0.650000	0.86243	GGC		0.542	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		30	159	1	0	3.11337e-16	0.002836	4.23482e-16	30	159				
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237729943G>A	ENST00000366574.2	+	28	3608	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	RYR2_ENST00000542537.1_Silent_p.K1081K|RYR2_ENST00000360064.6_Silent_p.K1095K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1097	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K1095K(2)|p.K1095N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGTGAAGGCCGGACGGT	0.557																																							uc001hyl.1		NA																	3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(2)|large_intestine(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3289-3291)AAG>AAA		cardiac muscle ryanodine receptor							128.0	129.0	128.0					1																	237729943		1960	4144	6104	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729943G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3291G>A	1.37:g.237729943G>A							p.K1097K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3411	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1097			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3291G>A	CCDS55691.1																																																																																				0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		81	282	0	0	0	0.00361	0	81	282				
RYR2	6262	broad.mit.edu	37	1	237798280	237798280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237798280G>A	ENST00000366574.2	+	44	7097	c.6780G>A	c.(6778-6780)ccG>ccA	p.P2260P	RYR2_ENST00000542537.1_Silent_p.P2244P|RYR2_ENST00000360064.6_Silent_p.P2258P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2260	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.P2258P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGTGAGCCGGATCTAGAAA	0.423																																							uc001hyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6778-6780)CCG>CCA		cardiac muscle ryanodine receptor							70.0	71.0	71.0					1																	237798280		1956	4157	6113	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237798280G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6780G>A	1.37:g.237798280G>A							p.P2260P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		44	6900	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2260			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6780G>A	CCDS55691.1																																																																																				0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	69	0	0	0	0.001984	0	6	69				
RYR2	6262	broad.mit.edu	37	1	237955446	237955446	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237955446G>T	ENST00000366574.2	+	94	13922	c.13605G>T	c.(13603-13605)acG>acT	p.T4535T	RYR2_ENST00000542537.1_Silent_p.T4519T|RYR2_ENST00000360064.6_Silent_p.T4541T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4535					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T4533T(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTCCCCACGAGAAGTTCAA	0.463																																							uc001hyl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13603-13605)ACG>ACT		cardiac muscle ryanodine receptor							53.0	52.0	52.0					1																	237955446		1979	4169	6148	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237955446G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13605G>T	1.37:g.237955446G>T						RYR2_uc010pyb.1_5'UTR	p.T4535T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		94	13725	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4535					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.13605G>T	CCDS55691.1																																																																																				0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	57	1	0	0.000602214	0.000602	0.000648446	5	57				
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:238051764C>A	ENST00000366570.4	-	4	605	c.447G>T	c.(445-447)cgG>cgT	p.R149R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	149	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R149R(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCAGTCTGTCCCGTGCTGGGA	0.473																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(445-447)CGG>CGT		zona pellucida glycoprotein 4 preproprotein							127.0	117.0	120.0					1																	238051764		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238051764C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.447G>T	1.37:g.238051764C>A						LOC100130331_uc010pyc.1_Intron	p.R149R	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	447	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	149			P-type.|Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.447G>T	CCDS1615.1																																																																																				0.473	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			83	330	1	0	6.50375e-52	0.00361	1.14212e-51	83	330				
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	G	T	rs180177463		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247587802G>T	ENST00000336119.3	+	3	1803	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.V353L|NLRP3_ENST00000366496.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391827.2_Missense_Mutation_p.V353L|NLRP3_ENST00000366497.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391828.3_Missense_Mutation_p.V353L	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	353	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.V353L(2)		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)			CACGAGACCTGTGGCCCTGGA	0.557																																							uc001icr.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	GRCh37	CM060243|CM071606	NLRP3	M	rs180177463	c.(1057-1059)GTG>TTG		NLR family, pyrin domain containing 3 isoform a							59.0	62.0	61.0					1																	247587802		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.chr1:247587802G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1057G>T	1.37:g.247587802G>T	ENSP00000337383:p.Val353Leu					NLRP3_uc001ics.2_Missense_Mutation_p.V353L|NLRP3_uc001icu.2_Missense_Mutation_p.V353L|NLRP3_uc001icw.2_Missense_Mutation_p.V353L|NLRP3_uc001icv.2_Missense_Mutation_p.V353L|NLRP3_uc010pyw.1_Missense_Mutation_p.V351L|NLRP3_uc001ict.1_Missense_Mutation_p.V351L	p.V353L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1195	+	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)	353			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1057G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110200	0.37242	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.145125	0.32231	N	0.006391	T	0.62245	0.2412	N	0.20401	0.57	0.24619	N	0.993686	B;B;B;B;B	0.32425	0.233;0.125;0.371;0.01;0.013	B;B;B;B;B	0.34489	0.184;0.044;0.146;0.037;0.029	T	0.52147	-0.8614	10	0.21014	T	0.42	.	11.5521	0.50726	0.0:0.0:1.0:0.0	.	353;353;353;353;353	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	353	ENSP00000375704:V353L;ENSP00000355453:V353L;ENSP00000337383:V353L;ENSP00000294752:V353L;ENSP00000355452:V353L;ENSP00000375703:V353L	ENSP00000337383:V353L	V	+	1	0	NLRP3	245654425	0.000000	0.05858	0.768000	0.31515	0.946000	0.59487	0.187000	0.16998	2.436000	0.82500	0.563000	0.77884	GTG		0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		35	161	1	0	1.3203e-36	0.00361	2.1605e-36	35	161				
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247614463C>A	ENST00000318749.6	-	1	845	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q274H(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAAATTTGCCCTGCTCTTGGG	0.493																																							uc010pyx.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(820-822)CAG>CAT		olfactory receptor, family 2, subfamily B,							153.0	162.0	159.0					1																	247614463		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614463C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.822G>T	1.37:g.247614463C>A	ENSP00000325682:p.Gln274His						p.Q274H	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	822	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	274			Extracellular (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.822G>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994409	0.54041	.	.	ENSG00000177535	ENST00000318749	T	0.00169	8.63	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.526041	0.16298	N	0.220587	T	0.00356	0.0011	L	0.52206	1.635	0.30893	N	0.730176	D	0.71674	0.998	D	0.71870	0.975	T	0.56056	-0.8042	10	0.62326	D	0.03	.	7.8906	0.29675	0.0:0.8183:0.0:0.1817	.	274	Q5JQS5	OR2BB_HUMAN	H	274	ENSP00000325682:Q274H	ENSP00000325682:Q274H	Q	-	3	2	OR2B11	245681086	0.002000	0.14202	1.000000	0.80357	0.963000	0.63663	-0.181000	0.09740	1.526000	0.49068	0.643000	0.83706	CAG		0.493	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		94	339	1	0	1.21964e-59	0.00361	2.20269e-59	94	339				
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247695356C>A	ENST00000366487.3	-	2	819	c.458G>T	c.(457-459)gGt>gTt	p.G153V	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTGGTCAGACCCCCCAGCCA	0.562																																							uc009xgy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(457-459)GGT>GTT		olfactory receptor, family 2, subfamily C,							48.0	48.0	48.0					1																	247695356		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695356C>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.458G>T	1.37:g.247695356C>A	ENSP00000355443:p.Gly153Val					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.G153V	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	820	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	153			Helical; Name=4; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.458G>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108824	0.56398	.	.	ENSG00000196242	ENST00000366487	T	0.39056	1.1	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001641	T	0.69771	0.3148	M	0.94063	3.49	0.38556	D	0.949589	D	0.61697	0.99	D	0.64042	0.921	T	0.81059	-0.1104	10	0.87932	D	0	.	13.7858	0.63108	0.0:1.0:0.0:0.0	.	153	Q8N628	OR2C3_HUMAN	V	153	ENSP00000355443:G153V	ENSP00000355443:G153V	G	-	2	0	OR2C3	245761979	0.784000	0.28713	0.954000	0.39281	0.873000	0.50193	2.761000	0.47589	2.156000	0.67533	0.650000	0.86243	GGT		0.562	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		12	24	1	0	1.49906e-05	0.00245	1.6725e-05	12	24				
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247752128T>C	ENST00000320065.1	+	1	467	c.467T>C	c.(466-468)aTa>aCa	p.I156T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I156T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAGTGGAATAGCCACCACC	0.547																																							uc010pyy.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(466-468)ATA>ACA		olfactory receptor, family 2, subfamily G,							224.0	197.0	207.0					1																	247752128		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752128T>C	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.467T>C	1.37:g.247752128T>C	ENSP00000326349:p.Ile156Thr						p.I156T	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	467	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		156			Helical; Name=4; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.467T>C	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	T	5.828	0.336987	0.11013	.	.	ENSG00000177489	ENST00000320065	T	0.00152	8.66	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	1.140280	0.07019	U	0.826441	T	0.00144	0.0004	L	0.27053	0.805	0.09310	N	1	B	0.18968	0.032	B	0.12156	0.007	T	0.48375	-0.9041	10	0.72032	D	0.01	.	11.4683	0.50252	0.0:0.0:0.0:1.0	.	156	Q8NGZ5	OR2G2_HUMAN	T	156	ENSP00000326349:I156T	ENSP00000326349:I156T	I	+	2	0	OR2G2	245818751	0.002000	0.14202	0.762000	0.31397	0.037000	0.13140	0.654000	0.24918	1.789000	0.52484	0.481000	0.45027	ATA		0.547	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			201	592	0	0	0	0.00361	0	201	592				
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F251L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGATTATATTCTATGGCACCA	0.488																																							uc010pyz.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(751-753)TTC>TTA		olfactory receptor, family 2, subfamily G,							109.0	102.0	104.0					1																	247769640		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769640C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.753C>A	1.37:g.247769640C>A	ENSP00000326301:p.Phe251Leu						p.F251L	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	753	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		251			Helical; Name=6; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.753C>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847862	0.51164	.	.	ENSG00000177476	ENST00000320002	T	0.00285	8.3	3.65	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.197068	0.24361	U	0.039187	T	0.00580	0.0019	M	0.83012	2.62	0.22401	N	0.999134	D	0.89917	1.0	D	0.91635	0.999	T	0.41251	-0.9519	10	0.72032	D	0.01	.	7.4028	0.26973	0.0:0.7608:0.0:0.2392	.	251	Q8NGZ4	OR2G3_HUMAN	L	251	ENSP00000326301:F251L	ENSP00000326301:F251L	F	+	3	2	OR2G3	245836263	0.000000	0.05858	0.765000	0.31456	0.644000	0.38419	-1.153000	0.03169	0.283000	0.22279	0.492000	0.49549	TTC		0.488	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			30	157	1	0	9.21846e-06	0.002836	1.04033e-05	30	157				
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247978554C>A	ENST00000357627.1	-	1	477	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G160C(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAGAAGGTGCCAGCTGTGTGC	0.473																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(478-480)GGC>TGC		olfactory receptor, family 14, subfamily A,							105.0	95.0	98.0					1																	247978554		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978554C>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.478G>T	1.37:g.247978554C>A	ENSP00000350248:p.Gly160Cys						p.G160C	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	478	-			160			Extracellular (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.478G>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316696	0.23908	.	.	ENSG00000196772	ENST00000357627	T	0.00063	8.78	3.51	-3.53	0.04667	GPCR, rhodopsin-like superfamily (1);	0.462954	0.17818	U	0.160968	T	0.00109	0.0003	N	0.20357	0.565	0.09310	N	1	P	0.36465	0.554	B	0.43867	0.434	T	0.33317	-0.9873	10	0.37606	T	0.19	.	2.1517	0.03801	0.1472:0.1697:0.1469:0.5363	.	160	Q8NHC5	O14AG_HUMAN	C	160	ENSP00000350248:G160C	ENSP00000350248:G160C	G	-	1	0	OR14A16	246045177	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.231000	0.01206	-0.610000	0.05716	-0.220000	0.12472	GGC		0.473	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		103	513	1	0	6.25825e-54	0.00361	1.10802e-53	103	513				
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248059311C>G	ENST00000360358.3	+	1	423	c.423C>G	c.(421-423)tgC>tgG	p.C141W	OR2W3_ENST00000537741.1_Missense_Mutation_p.C141W	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627																																							uc001idp.1		NA																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(1)|breast(1)|pancreas(1)	3						c.(421-423)TGC>TGG		olfactory receptor, family 2, subfamily W,							77.0	61.0	66.0					1																	248059311		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059311C>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.423C>G	1.37:g.248059311C>G	ENSP00000353516:p.Cys141Trp					OR2W3_uc010pzb.1_Missense_Mutation_p.C141W	p.C141W	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	692	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		141			Helical; Name=4; (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.423C>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141437	0.21205	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00241	8.46;8.46	5.28	0.127	0.14727	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00815	0.0027	H	0.97440	4.005	0.41479	D	0.988156	D	0.89917	1.0	D	0.97110	1.0	T	0.53315	-0.8456	10	0.87932	D	0	.	10.5916	0.45312	0.0:0.5875:0.0:0.4125	.	141	Q7Z3T1	OR2W3_HUMAN	W	141	ENSP00000445853:C141W;ENSP00000353516:C141W	ENSP00000353516:C141W	C	+	3	2	OR2W3	246125934	0.000000	0.05858	0.082000	0.20525	0.041000	0.13682	-0.887000	0.04152	0.096000	0.17463	0.603000	0.83216	TGC		0.627	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		27	104	0	0	0	0.004656	0	27	104				
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248059622T>A	ENST00000360358.3	+	1	734	c.734T>A	c.(733-735)cTc>cAc	p.L245H	OR2W3_ENST00000537741.1_Missense_Mutation_p.L245H	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L245H(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCCATCTCACTGTGGTC	0.512																																							uc001idp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(733-735)CTC>CAC		olfactory receptor, family 2, subfamily W,							160.0	146.0	150.0					1																	248059622		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059622T>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.734T>A	1.37:g.248059622T>A	ENSP00000353516:p.Leu245His					OR2W3_uc010pzb.1_Missense_Mutation_p.L245H	p.L245H	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1003	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		245			Helical; Name=6; (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.734T>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469453	0.63625	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.51574	0.7;0.7	5.29	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.79358	0.4432	H	0.98664	4.295	0.39022	D	0.959769	D	0.89917	1.0	D	0.79108	0.992	D	0.86416	0.1751	10	0.87932	D	0	.	12.0613	0.53564	0.0:0.0:0.1442:0.8558	.	245	Q7Z3T1	OR2W3_HUMAN	H	245	ENSP00000445853:L245H;ENSP00000353516:L245H	ENSP00000353516:L245H	L	+	2	0	OR2W3	246126245	0.964000	0.33143	0.991000	0.47740	0.778000	0.44026	7.083000	0.76859	0.998000	0.38996	0.496000	0.49642	CTC		0.512	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		14	388	0	0	0	0.00245	0	14	388				
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	G	T	rs369963137		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248084416G>T	ENST00000319968.4	+	1	97	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGAGTATCGTTTTGACCTC	0.483																																							uc010pzc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(97-99)GTT>TTT		olfactory receptor, family 2, subfamily T,							77.0	74.0	75.0					1																	248084416		2202	4297	6499	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084416G>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.97G>T	1.37:g.248084416G>T	ENSP00000326225:p.Val33Phe						p.V33F	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	97	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	33			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.97G>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.603183	0.00849	.	.	ENSG00000177462	ENST00000319968	T	0.01947	4.54	3.65	-4.04	0.04010	.	1.089080	0.07304	U	0.874565	T	0.00524	0.0017	N	0.00040	-2.495	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50558	-0.8814	10	0.02654	T	1	.	14.7469	0.69494	0.0:0.0:0.166:0.834	.	33	A6NH00	OR2T8_HUMAN	F	33	ENSP00000326225:V33F	ENSP00000326225:V33F	V	+	1	0	OR2T8	246151039	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.612000	0.36889	-0.493000	0.06678	-0.423000	0.05987	GTT		0.483	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		32	212	1	0	1.8453e-21	0.002522	2.7041e-21	32	212				
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248224532G>A	ENST00000359959.3	+	1	549	c.549G>A	c.(547-549)atG>atA	p.M183I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M183I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCCAGCAATGGTGACTCTGG	0.463																																							uc001idx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(547-549)ATG>ATA		olfactory receptor, family 2, subfamily L,							113.0	139.0	130.0					1																	248224532		2202	4298	6500	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224532G>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.549G>A	1.37:g.248224532G>A	ENSP00000353044:p.Met183Ile					OR2L13_uc001ids.2_Intron	p.M183I	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	549	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		183			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.549G>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	6.121	0.390609	0.11581	.	.	ENSG00000198128	ENST00000359959	T	0.00022	9.01	2.05	0.895	0.19247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001234	T	0.00073	0.0002	N	0.12831	0.26	0.09310	N	1	B	0.23540	0.087	B	0.33799	0.17	T	0.11641	-1.0579	10	0.49607	T	0.09	.	5.4529	0.16574	0.0:0.1718:0.5056:0.3226	.	183	Q8NG85	OR2L3_HUMAN	I	183	ENSP00000353044:M183I	ENSP00000353044:M183I	M	+	3	0	OR2L3	246291155	0.000000	0.05858	0.020000	0.16555	0.004000	0.04260	-1.534000	0.02212	1.124000	0.41980	0.462000	0.41574	ATG		0.463	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		110	702	0	0	0	0.00361	0	110	702				
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248487614A>T	ENST00000317965.2	-	1	285	c.257T>A	c.(256-258)tTg>tAg	p.L86*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L86*(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCAGACAAGTAGTTGAA	0.493																																							uc010pzk.1		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)	2						c.(256-258)TTG>TAG		olfactory receptor, family 2, subfamily M,							244.0	242.0	243.0					1																	248487614		2203	4300	6503	SO:0001587	stop_gained	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487614A>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.257T>A	1.37:g.248487614A>T	ENSP00000324557:p.Leu86*						p.L86*	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	257	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		86			Extracellular (Potential).		B2RNL0|Q6IEX6	Nonsense_Mutation	SNP	ENST00000317965.2	37	c.257T>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	A	9.769	1.172066	0.21704	.	.	ENSG00000177186	ENST00000317965	.	.	.	1.54	1.54	0.23209	.	0.000000	0.27298	U	0.020006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6678	0.34132	1.0:0.0:0.0:0.0	.	.	.	.	X	86	.	ENSP00000324557:L86X	L	-	2	0	OR2M7	246554237	0.490000	0.26012	0.148000	0.22405	0.129000	0.20672	4.111000	0.57838	0.703000	0.31848	0.155000	0.16302	TTG		0.493	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		189	628	0	0	0	0.00361	0	189	628				
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248487866G>T	ENST00000317965.2	-	1	33	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A2E(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTCCCATGCCATGATGAA	0.428																																							uc010pzk.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(4-6)GCA>GAA		olfactory receptor, family 2, subfamily M,							154.0	156.0	155.0					1																	248487866		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487866G>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.5C>A	1.37:g.248487866G>T	ENSP00000324557:p.Ala2Glu						p.A2E	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	5	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2			Extracellular (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.5C>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.119253	0.00346	.	.	ENSG00000177186	ENST00000317965	T	0.18657	2.2	1.8	1.8	0.24995	.	1.119880	0.07151	U	0.849197	T	0.08714	0.0216	N	0.04880	-0.145	0.20926	N	0.999825	B	0.14012	0.009	B	0.15484	0.013	T	0.28490	-1.0042	10	0.02654	T	1	.	7.2889	0.26354	0.0:0.0:0.7378:0.2622	.	2	Q8NG81	OR2M7_HUMAN	E	2	ENSP00000324557:A2E	ENSP00000324557:A2E	A	-	2	0	OR2M7	246554489	0.000000	0.05858	0.407000	0.26434	0.489000	0.33432	-0.991000	0.03728	0.998000	0.38996	0.194000	0.17425	GCA		0.428	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		101	498	1	0	9.84861e-36	0.00361	1.60188e-35	101	498				
OR2T1	26696	broad.mit.edu	37	1	248569631	248569631	+	Silent	SNP	C	C	G	rs540027914	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248569631C>G	ENST00000366474.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L112L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.438																																							uc010pzm.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(334-336)CTC>CTG		olfactory receptor, family 2, subfamily T,							174.0	159.0	164.0					1																	248569631		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569631C>G	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.336C>G	1.37:g.248569631C>G							p.L112L	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	336	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		112			Helical; Name=2; (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.336C>G	CCDS31115.1																																																																																				0.438	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			15	574	0	0	0	0.00499	0	15	574				
OR2G6	391211	broad.mit.edu	37	1	248685280	248685280	+	Silent	SNP	G	G	A	rs538615728		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248685280G>A	ENST00000343414.4	+	1	365	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCGTCTGAGTGTATTCTCT	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		19527	0.0		0.001	False		,,,				2504	0.0						uc001ien.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(331-333)GAG>GAA		olfactory receptor, family 2, subfamily G,							98.0	96.0	97.0					1																	248685280		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685280G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.333G>A	1.37:g.248685280G>A							p.E111E	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	333	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	111			Helical; Name=3; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.333G>A	CCDS31119.1																																																																																				0.552	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		49	543	0	0	0	0.00361	0	49	543				
OR2T34	127068	broad.mit.edu	37	1	248737445	248737445	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248737445T>A	ENST00000328782.2	-	1	635	c.614A>T	c.(613-615)tAc>tTc	p.Y205F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y205F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCACAGGTACGTGAGCAT	0.527																																							uc001iep.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(613-615)TAC>TTC		olfactory receptor, family 2, subfamily T,							199.0	214.0	209.0					1																	248737445		2105	4300	6405	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737445T>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.614A>T	1.37:g.248737445T>A	ENSP00000330904:p.Tyr205Phe						p.Y205F	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	614	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		205			Helical; Name=5; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.614A>T	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	9.183	1.024089	0.19433	.	.	ENSG00000183310	ENST00000328782	T	0.00044	8.83	2.37	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.05619	-0.005	0.09310	N	1	B	0.22541	0.071	B	0.33960	0.173	T	0.01956	-1.1240	9	0.08599	T	0.76	.	5.9239	0.19099	0.5265:0.0:0.0:0.4735	.	205	Q8NGX1	O2T34_HUMAN	F	205	ENSP00000330904:Y205F	ENSP00000330904:Y205F	Y	-	2	0	OR2T34	246804068	0.000000	0.05858	0.950000	0.38849	0.091000	0.18340	-0.156000	0.10100	0.964000	0.38108	0.104000	0.15600	TAC		0.527	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		153	652	0	0	0	0.00361	0	153	652				
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248756948C>G	ENST00000330500.2	-	1	152	c.122G>C	c.(121-123)tGg>tCg	p.W41S	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W41S(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATATTCCAAGACACAGC	0.423																																							uc010pzn.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(121-123)TGG>TCG		olfactory receptor, family 2, subfamily T,							66.0	70.0	69.0					1																	248756948		2045	4235	6280	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756948C>G		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.122G>C	1.37:g.248756948C>G	ENSP00000329210:p.Trp41Ser						p.W41S	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	122	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		41			Helical; Name=1; (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.122G>C	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	1.678	-0.507197	0.04231	.	.	ENSG00000184022	ENST00000330500	T	0.35789	1.29	2.34	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15478	0.0373	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19386	-1.0307	9	0.44086	T	0.13	.	2.8077	0.05432	0.0:0.4603:0.2593:0.2804	.	41	Q8NGZ9	O2T10_HUMAN	S	41	ENSP00000329210:W41S	ENSP00000329210:W41S	W	-	2	0	OR2T10	246823571	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	-0.502000	0.06390	0.171000	0.19730	-0.542000	0.04241	TGG		0.423	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		67	75	0	0	0	0.00361	0	67	75				
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:294355T>C	ENST00000397962.3	+	13	1735	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	ZMYND11_ENST00000381604.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000558098.2_Missense_Mutation_p.V436A|ZMYND11_ENST00000381591.1_Missense_Mutation_p.V436A|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381607.4_Missense_Mutation_p.V342A|ZMYND11_ENST00000402736.1_Missense_Mutation_p.V405A|ZMYND11_ENST00000403354.1_Missense_Mutation_p.V356A|ZMYND11_ENST00000535374.1_Missense_Mutation_p.V231A|ZMYND11_ENST00000397959.3_Missense_Mutation_p.V351A|ZMYND11_ENST00000381602.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000309776.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000381584.1_Missense_Mutation_p.V419A|ZMYND11_ENST00000602682.1_Missense_Mutation_p.V351A|ZMYND11_ENST00000509513.2_Missense_Mutation_p.V435A|ZMYND11_ENST00000545619.1_Missense_Mutation_p.V316A			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	436					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V436A(4)|p.V396A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGTCTCCGTGTCAACTCAG	0.498																																							uc010pzt.1		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(1306-1308)GTG>GCG		zinc finger, MYND domain containing 11 isoform							119.0	114.0	116.0					10																	294355		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:294355T>C	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1307T>C	10.37:g.294355T>C	ENSP00000381053:p.Val436Ala					ZMYND11_uc001ifk.2_Missense_Mutation_p.V435A|ZMYND11_uc010pzu.1_Missense_Mutation_p.V436A|ZMYND11_uc010pzv.1_Missense_Mutation_p.V381A|ZMYND11_uc010pzw.1_Missense_Mutation_p.V351A|ZMYND11_uc001ifm.2_Missense_Mutation_p.V382A|ZMYND11_uc010pzx.1_Missense_Mutation_p.V436A|ZMYND11_uc001ifn.2_Missense_Mutation_p.V382A|ZMYND11_uc009xhg.2_Missense_Mutation_p.V419A|ZMYND11_uc009xhh.2_Missense_Mutation_p.V310A|ZMYND11_uc010pzy.1_Missense_Mutation_p.V288A	p.V436A	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	13	1735	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	396					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1307T>C	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090674	0.55968	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	L	0.27053	0.805	0.38615	D	0.950990	P;P;B;B;P;P;B;P;B;B	0.43633	0.813;0.518;0.3;0.278;0.518;0.61;0.329;0.61;0.435;0.329	B;B;B;B;B;B;B;B;B;B	0.38562	0.276;0.114;0.098;0.057;0.164;0.197;0.122;0.104;0.15;0.122	T	0.42224	-0.9464	8	0.10377	T	0.69	-24.0899	16.5764	0.84681	0.0:0.0:0.0:1.0	.	396;436;351;381;436;356;365;382;382;405	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	A	436;396;396;436;351;436;356;342;405;396;419;316;231	.	ENSP00000309992:V396A	V	+	2	0	ZMYND11	284355	1.000000	0.71417	0.997000	0.53966	0.635000	0.38103	7.779000	0.85648	2.371000	0.80710	0.533000	0.62120	GTG		0.498	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		29	93	0	0	0	0.002096	0	29	93				
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:409175C>T	ENST00000280886.6	-	21	2641	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	DIP2C_ENST00000540204.1_Missense_Mutation_p.E173K|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	852						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E852K(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTCCTCTTCCGTGGAGTCA	0.607																																							uc001ifp.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(2)|large_intestine(1)	7						c.(2554-2556)GAA>AAA		DIP2 disco-interacting protein 2 homolog C							170.0	116.0	134.0					10																	409175		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:409175C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2554G>A	10.37:g.409175C>T	ENSP00000280886:p.Glu852Lys					DIP2C_uc009xhi.1_Missense_Mutation_p.E238K|DIP2C_uc010pzz.1_Missense_Mutation_p.E173K	p.E852K	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	21	2644	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	852					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2554G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	35	5.552309	0.96501	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.47528	1.85;0.84	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.55017	1.72	0.80722	D	1	D;D	0.69078	0.997;0.993	P;D	0.64687	0.9;0.928	T	0.53683	-0.8404	10	0.21540	T	0.41	-40.9256	20.0172	0.97481	0.0:1.0:0.0:0.0	.	173;852	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	K	852;173	ENSP00000280886:E852K;ENSP00000443826:E173K	ENSP00000280886:E852K	E	-	1	0	DIP2C	399175	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	7.811000	0.86092	2.731000	0.93534	0.557000	0.71058	GAA		0.607	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		17	35	0	0	0	0.008871	0	17	35				
LARP4B	23185	broad.mit.edu	37	10	860901	860901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:860901G>A	ENST00000316157.3	-	15	1845	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	602					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.P602L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATGAGCTGGGGAGGGGGA	0.547																																							uc001ifs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1804-1806)CCA>CTA		La ribonucleoprotein domain family, member 4B							77.0	76.0	76.0					10																	860901		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:860901G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1805C>T	10.37:g.860901G>A	ENSP00000326128:p.Pro602Leu						p.P602L	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			15	1846	-			602					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1805C>T	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.17|18.17	3.564696|3.564696	0.65651|0.65651	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000440895	T|.	0.34072|.	1.38|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.138333|.	0.64402|.	D|.	0.000003|.	T|.	0.50820|.	0.1638|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.40578|.	0.722|.	B|.	0.26614|.	0.071|.	T|.	0.43972|.	-0.9358|.	10|.	0.72032|.	D|.	0.01|.	-13.4206|-13.4206	17.9991|17.9991	0.89193|0.89193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602|.	Q92615|.	LAR4B_HUMAN|.	L|X	602|78	ENSP00000326128:P602L|.	ENSP00000326128:P602L|.	P|Q	-|-	2|1	0|0	LARP4B|LARP4B	850901|850901	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.242000|0.242000	0.25591|0.25591	6.104000|6.104000	0.71498|0.71498	2.781000|2.781000	0.95711|0.95711	0.514000|0.514000	0.50259|0.50259	CCA|CAG		0.547	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		7	80	0	0	0	0.006214	0	7	80				
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	C	T	rs141514196		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:7763676C>T	ENST00000358415.4	+	8	969	c.803C>T	c.(802-804)gCg>gTg	p.A268V	ITIH2_ENST00000379587.4_Missense_Mutation_p.A257V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A268V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGGAGACTGCGGTAGATGGG	0.552																																							uc001ijs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(802-804)GCG>GTG		inter-alpha globulin inhibitor H2 polypeptide		C	VAL/ALA	0,4406		0,0,2203	180.0	161.0	168.0		803	2.5	0.0	10	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ITIH2	NM_002216.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	268/947	7763676	1,13005	2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7763676C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.803C>T	10.37:g.7763676C>T	ENSP00000351190:p.Ala268Val						p.A268V	NM_002216	NP_002207	P19823	ITIH2_HUMAN			8	965	+			268					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.803C>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	8.615	0.890000	0.17540	0.0	1.16E-4	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.76968	-1.06;-1.06	5.29	2.46	0.29980	.	0.432154	0.27700	N	0.018216	T	0.60663	0.2286	L	0.40543	1.245	0.09310	N	1	P	0.44690	0.841	B	0.32864	0.154	T	0.51164	-0.8740	10	0.17369	T	0.5	-7.1029	10.4007	0.44229	0.0:0.7884:0.0:0.2116	.	268	P19823	ITIH2_HUMAN	V	268;257	ENSP00000351190:A268V;ENSP00000368906:A257V	ENSP00000351190:A268V	A	+	2	0	ITIH2	7803682	0.677000	0.27577	0.005000	0.12908	0.008000	0.06430	1.668000	0.37481	0.250000	0.21479	-0.362000	0.07510	GCG		0.552	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		13	96	0	0	0	0.00499	0	13	96				
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:7773794C>A	ENST00000358415.4	+	13	1648	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	ITIH2_ENST00000379587.4_Silent_p.S483S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	494					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S494S(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCAGGTCTCCACTCCATTGC	0.373																																							uc001ijs.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(1480-1482)TCC>TCA		inter-alpha globulin inhibitor H2 polypeptide							125.0	125.0	125.0					10																	7773794		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7773794C>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1482C>A	10.37:g.7773794C>A							p.S494S	NM_002216	NP_002207	P19823	ITIH2_HUMAN			13	1644	+			494					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.1482C>A	CCDS31141.1																																																																																				0.373	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		54	303	1	0	6.05568e-20	0.00361	8.66243e-20	54	303				
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:13264144C>A	ENST00000378681.3	-	5	448	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	UCMA_ENST00000463405.2_Missense_Mutation_p.G104C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	126					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)		p.G126C(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGGTGCAGGCCGTCATAGTGC	0.587																																							uc001imd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(376-378)GGC>TGC		upper zone of growth plate and cartilage matrix							137.0	119.0	125.0					10																	13264144		2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13264144C>A	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.376G>T	10.37:g.13264144C>A	ENSP00000367952:p.Gly126Cys						p.G126C	NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN			5	449	-			126						Missense_Mutation	SNP	ENST00000378681.3	37	c.376G>T	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140191	0.56936	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.78155	0.4239	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80743	-0.1246	9	0.87932	D	0	-21.3771	15.5703	0.76330	0.0:1.0:0.0:0.0	.	126	Q8WVF2	UCMA_HUMAN	C	126	.	ENSP00000367952:G126C	G	-	1	0	UCMA	13304150	0.996000	0.38824	0.938000	0.37757	0.202000	0.24057	3.862000	0.56009	2.412000	0.81896	0.448000	0.29417	GGC		0.587	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		16	69	1	0	3.32936e-07	0.006122	3.84568e-07	16	69				
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:16873350G>T	ENST00000377833.4	-	65	10494	c.10429C>A	c.(10429-10431)Cct>Act	p.P3477T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3477	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P3477T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAAGACAGGGTTTGGCAGC	0.393																																							uc001ioo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10429-10431)CCT>ACT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						135.0	124.0	127.0					10																	16873350		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873350G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10429C>A	10.37:g.16873350G>T	ENSP00000367064:p.Pro3477Thr						p.P3477T	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10481	-			3477			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10429C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895308	0.72639	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.17528	2.27	4.6	4.6	0.57074	CUB (5);	0.351838	0.20608	N	0.089040	T	0.36054	0.0953	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12528	-1.0544	10	0.72032	D	0.01	.	17.5839	0.87976	0.0:0.0:1.0:0.0	.	3477	O60494	CUBN_HUMAN	T	3477;318	ENSP00000367064:P3477T	ENSP00000367064:P3477T	P	-	1	0	CUBN	16913356	1.000000	0.71417	0.737000	0.30932	0.826000	0.46750	8.938000	0.92943	2.378000	0.81104	0.561000	0.74099	CCT		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		107	289	1	0	7.53784e-56	0.00361	1.34338e-55	107	289				
CUBN	8029	broad.mit.edu	37	10	17169920	17169921	+	Nonsense_Mutation	DNP	GG	GG	AA	rs202136129		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:17169920_17169921GG>AA	ENST00000377833.4	-	3	320_321	c.255_256CC>TT	c.(253-258)atCCag>atTTag	p.Q86*	CUBN_ENST00000377823.1_Nonsense_Mutation_p.Q86*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	86					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTTTCTGGATCTAATTTT	0.282																																							uc001ioo.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(253-258)ATCCAG>ATTTAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001587	stop_gained	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17169920_17169921GG>AA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.255_256delinsAA	10.37:g.17169920_17169921delinsAA	ENSP00000367064:p.Gln86*						p.Q86*	NM_001081	NP_001072	O60494	CUBN_HUMAN			3	307_308	-			86					B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	DNP	ENST00000377833.4	37	c.255_256CC>TT	CCDS7113.1																																																																																				0.282	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	70	0	0	0	0.004672	0	9	70				
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:31810643C>T	ENST00000320985.10	+	7	2490	c.2380C>T	c.(2380-2382)Cca>Tca	p.P794S	ZEB1_ENST00000560721.2_Missense_Mutation_p.P774S|ZEB1_ENST00000446923.2_Missense_Mutation_p.P778S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P727S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794				IP -> KY (in Ref. 3; BAG58962). {ECO:0000305}.	cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)	5						c.(2380-2382)CCA>TCA		zinc finger E-box binding homeobox 1 isoform b							152.0	123.0	133.0					10																	31810643		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810643C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2380C>T	10.37:g.31810643C>T	ENSP00000319248:p.Pro794Ser					ZEB1_uc001ivr.3_Missense_Mutation_p.P576S|ZEB1_uc010qee.1_Missense_Mutation_p.P576S|ZEB1_uc010qef.1_Missense_Mutation_p.P576S|ZEB1_uc009xlj.1_Missense_Mutation_p.P720S|ZEB1_uc010qeg.1_Missense_Mutation_p.P653S|ZEB1_uc009xlk.1_Missense_Mutation_p.P576S|ZEB1_uc001ivt.3_Missense_Mutation_p.P576S|ZEB1_uc001ivu.3_Missense_Mutation_p.P795S|ZEB1_uc001ivv.3_Missense_Mutation_p.P774S|ZEB1_uc010qeh.1_Missense_Mutation_p.P727S|ZEB1_uc009xlo.1_Missense_Mutation_p.P777S|ZEB1_uc009xlp.2_Missense_Mutation_p.P778S	p.P794S	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2443	+		Prostate(175;0.0156)	794					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2380C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340812	0.41498	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.18810	2.49;2.19;2.22;2.2;2.2	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000011	T	0.46560	0.1399	M	0.71581	2.175	0.50632	D	0.999882	D;B;P;B;P;P;P;B	0.76494	0.999;0.4;0.666;0.278;0.666;0.85;0.666;0.278	D;B;B;B;B;P;B;B	0.74023	0.982;0.173;0.194;0.084;0.194;0.589;0.194;0.084	T	0.42447	-0.9451	10	0.56958	D	0.05	-14.5889	17.0459	0.86502	0.0:1.0:0.0:0.0	.	727;794;778;794;794;774;795;794	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	576;794;795;789;727;794;774;685;778	ENSP00000444282:P576S;ENSP00000354487:P795S;ENSP00000444891:P727S;ENSP00000319248:P794S;ENSP00000391612:P778S	ENSP00000319248:P794S	P	+	1	0	ZEB1	31850649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.132000	0.77251	2.523000	0.85059	0.650000	0.86243	CCA		0.453	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		113	358	0	0	0	0.00361	0	113	358				
HNRNPA3P1	10151	broad.mit.edu	37	10	44285232	44285232	+	IGR	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:44285232G>A								RP11-272J7.4 (10959 upstream) : LINC00619 (55521 downstream)																							TGTTTAGCAAGGGCCTTTTTC	0.438																																							uc010qfe.1		NA																	0					0						c.(604-606)CTT>TTT		SubName: Full=cDNA FLJ52659, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=cDNA, FLJ79333, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=Heterogeneous nuclear ribonucleoprotein A3, isoform CRA_a;																																				SO:0001628	intergenic_variant	10151							g.chr10:44285232G>A																													10.37:g.44285232G>A							p.L202F	NR_002726						1	634	-									Missense_Mutation	SNP		37	c.604C>T																																																																																				0	0.438									4	58	0	0	0	0.001168	0	4	58				
ALOX5	240	broad.mit.edu	37	10	45907644	45907644	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:45907644T>A	ENST00000374391.2	+	4	490	c.437T>A	c.(436-438)aTg>aAg	p.M146K	ALOX5_ENST00000542434.1_Missense_Mutation_p.M146K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	146	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.M146K(2)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CTCAGATGGATGGAGTGGAAC	0.498																																							uc001jce.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(436-438)ATG>AAG		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						120.0	116.0	117.0					10																	45907644		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45907644T>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.437T>A	10.37:g.45907644T>A	ENSP00000363512:p.Met146Lys					ALOX5_uc009xmt.2_Missense_Mutation_p.M146K|ALOX5_uc010qfg.1_Missense_Mutation_p.M146K	p.M146K	NM_000698	NP_000689	P09917	LOX5_HUMAN			4	536	+		Lung SC(717;0.0257)	146			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.437T>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	T	2.083	-0.410145	0.04799	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.88896	-2.44;-2.44	5.16	4.03	0.46877	Lipoxygenase, C-terminal (2);	0.311160	0.35870	N	0.002931	T	0.56514	0.1990	N	0.00258	-1.755	0.28268	N	0.924554	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.58612	-0.7606	10	0.02654	T	1	-29.5992	4.6838	0.12748	0.1669:0.0904:0.0:0.7427	.	146;146;146	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	K	146	ENSP00000437634:M146K;ENSP00000363512:M146K	ENSP00000363512:M146K	M	+	2	0	ALOX5	45227650	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.602000	0.54066	0.806000	0.34183	0.533000	0.62120	ATG		0.498	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			4	74	0	0	0	0.001168	0	4	74				
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:47087209C>T	ENST00000395716.1	+	2	511	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000374312.1_Silent_p.L142L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	142					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592																																							uc001jee.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(424-426)CTC>CTT		pancreatic polypeptide receptor 1							278.0	243.0	255.0					10																	47087209		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087209C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.426C>T	10.37:g.47087209C>T						ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L142L	p.L142L	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	845	+			142			Cytoplasmic (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.426C>T	CCDS31193.1																																																																																				0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			46	371	0	0	0	0.00361	0	46	371				
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:49444598T>A	ENST00000374201.3	-	9	1224		c.e9-2		FRMPD2_ENST00000305531.3_Splice_Site|FRMPD2_ENST00000407470.4_Splice_Site	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.?(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGGAAAACTGGAGGAAAAC	0.552																																							uc001jgi.2		NA																	2	Unknown(2)		lung(2)	large_intestine(1)	1						c.e9-1		FERM and PDZ domain containing 2 isoform 3							70.0	72.0	72.0					10																	49444598		2203	4300	6503	SO:0001630	splice_region_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49444598T>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.922-2A>T	10.37:g.49444598T>A						FRMPD2_uc001jgh.2_Splice_Site_p.F277_splice|FRMPD2_uc001jgj.2_Splice_Site_p.F286_splice	p.F308_splice	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	9	1029	-								B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Splice_Site	SNP	ENST00000374201.3	37	c.922_splice	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369968	0.61624	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1864	0.48660	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMPD2	49114604	1.000000	0.71417	0.976000	0.42696	0.838000	0.47535	4.365000	0.59486	1.966000	0.57179	0.459000	0.35465	.		0.552	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	Intron	11	92	0	0	0	0.00245	0	11	92				
FRMPD2	143162	broad.mit.edu	37	10	49450216	49450216	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:49450216A>T	ENST00000374201.3	-	5	857	c.555T>A	c.(553-555)ggT>ggA	p.G185G	FRMPD2_ENST00000305531.3_Silent_p.G161G|FRMPD2_ENST00000407470.4_Silent_p.G154G	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	185	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.G185G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAATGGTACCCAGAACCA	0.448																																							uc001jgi.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(553-555)GGT>GGA		FERM and PDZ domain containing 2 isoform 3							93.0	93.0	93.0					10																	49450216		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49450216A>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.555T>A	10.37:g.49450216A>T						FRMPD2_uc001jgh.2_Silent_p.G154G|FRMPD2_uc001jgj.2_Silent_p.G163G	p.G185G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	5	662	-			185			KIND.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.555T>A	CCDS31195.1																																																																																				0.448	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		6	196	0	0	0	0.004482	0	6	196				
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:52580401C>G	ENST00000373993.1	-	6	822	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	A1CF_ENST00000373995.3_Missense_Mutation_p.E268Q|A1CF_ENST00000373997.3_Missense_Mutation_p.E260Q|A1CF_ENST00000374001.2_Missense_Mutation_p.E260Q|A1CF_ENST00000395495.1_Missense_Mutation_p.E205Q|A1CF_ENST00000493415.1_5'UTR|RP11-449O16.2_ENST00000438919.1_RNA|A1CF_ENST00000395489.2_Missense_Mutation_p.E253Q|A1CF_ENST00000282641.2_Missense_Mutation_p.E260Q			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	260	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.E260Q(2)|p.E268Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACCCTCTCCACAGCACCT	0.388																																							uc001jjj.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(778-780)GAG>CAG		apobec-1 complementation factor isoform 2							111.0	100.0	104.0					10																	52580401		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52580401C>G	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.778G>C	10.37:g.52580401C>G	ENSP00000363105:p.Glu260Gln					A1CF_uc010qhn.1_Missense_Mutation_p.E268Q|A1CF_uc001jji.2_Missense_Mutation_p.E260Q|A1CF_uc001jjh.2_Missense_Mutation_p.E268Q|A1CF_uc010qho.1_Missense_Mutation_p.E268Q|A1CF_uc009xov.2_Missense_Mutation_p.E260Q	p.E260Q	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			8	966	-			260			RRM 3.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.778G>C	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676322	0.88445	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.75477	3.04;3.04;3.04;3.04;3.04;-0.94;3.04	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046826	0.85682	D	0.000000	T	0.69468	0.3114	L	0.33245	0.995	0.80722	D	1	B;B;P;B	0.49559	0.082;0.1;0.925;0.338	B;B;B;B	0.44044	0.096;0.11;0.439;0.193	T	0.73503	-0.3962	10	0.62326	D	0.03	.	17.3443	0.87306	0.0:1.0:0.0:0.0	.	253;260;260;268	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	Q	260;260;260;268;260;205;243;253	ENSP00000363113:E260Q;ENSP00000363105:E260Q;ENSP00000363109:E260Q;ENSP00000363107:E268Q;ENSP00000282641:E260Q;ENSP00000378873:E205Q;ENSP00000378868:E253Q	ENSP00000282641:E260Q	E	-	1	0	A1CF	52250407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.469000	0.80959	2.688000	0.91661	0.655000	0.94253	GAG		0.388	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		14	124	0	0	0	0.007413	0	14	124				
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:70446412G>T	ENST00000373644.4	+	11	5561	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1784					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.K1784N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAAGCGGAAGAATAACTCAA	0.458																																							uc001jok.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5350-5352)AAG>AAT		CXXC finger 6							97.0	89.0	92.0					10																	70446412		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446412G>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5352G>T	10.37:g.70446412G>T	ENSP00000362748:p.Lys1784Asn						p.K1784N	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			11	5857	+			1784					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5352G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	9.147	1.015346	0.19355	.	.	ENSG00000138336	ENST00000373644	T	0.09163	3.01	5.05	2.82	0.32997	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.487730	0.04012	N	0.298333	T	0.30916	0.0780	M	0.72894	2.215	0.21147	N	0.999771	D	0.89917	1.0	D	0.81914	0.995	T	0.03887	-1.0995	10	0.33940	T	0.23	.	6.4683	0.21993	0.3304:0.0:0.6696:0.0	.	1784	Q8NFU7	TET1_HUMAN	N	1784	ENSP00000362748:K1784N	ENSP00000362748:K1784N	K	+	3	2	TET1	70116418	1.000000	0.71417	0.944000	0.38274	0.082000	0.17680	1.055000	0.30467	1.153000	0.42468	0.454000	0.30748	AAG		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		30	284	1	0	1.47244e-24	0.00623	2.23035e-24	30	284				
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:70450858G>T	ENST00000373644.4	+	12	5907	c.5698G>T	c.(5698-5700)Ggc>Tgc	p.G1900C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1900					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.G1900C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATGGCCCTGGCATTTCACA	0.567																																							uc001jok.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5698-5700)GGC>TGC		CXXC finger 6							70.0	65.0	67.0					10																	70450858		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450858G>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5698G>T	10.37:g.70450858G>T	ENSP00000362748:p.Gly1900Cys						p.G1900C	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			12	6203	+			1900					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5698G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510331	0.44660	.	.	ENSG00000138336	ENST00000373644	T	0.08984	3.03	5.34	5.34	0.76211	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	4.182140	0.00797	N	0.001399	T	0.34193	0.0889	L	0.56769	1.78	0.23076	N	0.998331	D	0.89917	1.0	D	0.83275	0.996	T	0.51810	-0.8658	10	0.66056	D	0.02	.	17.216	0.86944	0.0:0.0:1.0:0.0	.	1900	Q8NFU7	TET1_HUMAN	C	1900	ENSP00000362748:G1900C	ENSP00000362748:G1900C	G	+	1	0	TET1	70120864	0.943000	0.32029	0.054000	0.19295	0.040000	0.13550	3.516000	0.53436	2.506000	0.84524	0.655000	0.94253	GGC		0.567	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		16	136	1	0	2.35188e-11	0.006122	2.94326e-11	16	136				
PALD1	27143	broad.mit.edu	37	10	72293678	72293678	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:72293678G>T	ENST00000263563.6	+	8	1139	c.871G>T	c.(871-873)Gag>Tag	p.E291*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	291						cytosol (GO:0005829)		p.E291*(2)									TCTTTCCCAGGAGACCCCCAG	0.652																																							uc001jrd.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(871-873)GAG>TAG		KIAA1274							35.0	33.0	33.0					10																	72293678		2203	4300	6503	SO:0001630	splice_region_variant	27143							g.chr10:72293678G>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.871-1G>T	10.37:g.72293678G>T							p.E291*	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			8	1152	+			291					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP	ENST00000263563.6	37	c.871G>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	G	37	6.248322	0.97412	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	4.64	4.64	0.57946	.	0.049384	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.2442	17.9911	0.89169	0.0:0.0:1.0:0.0	.	.	.	.	X	291	.	.	E	+	1	0	KIAA1274	71963684	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	9.066000	0.93949	2.507000	0.84556	0.561000	0.74099	GAG		0.652	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431	Nonsense_Mutation	5	49	1	0	0.000602214	0.000602	0.000648446	5	49				
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:73047403G>T	ENST00000335350.6	+	6	1198	c.782G>T	c.(781-783)cGc>cTc	p.R261L	UNC5B_ENST00000373192.4_Missense_Mutation_p.R261L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	261	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R261L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCTCCAACCGCTGTGGCCGA	0.667																																							uc001jro.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(781-783)CGC>CTC		unc-5 homolog B precursor							66.0	67.0	67.0					10																	73047403		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047403G>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.782G>T	10.37:g.73047403G>T	ENSP00000334329:p.Arg261Leu					UNC5B_uc001jrp.2_Missense_Mutation_p.R261L	p.R261L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			6	1227	+			261			TSP type-1 1.|Extracellular (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.782G>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.367648	0.82463	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51071	0.72;0.72	5.02	5.02	0.67125	.	0.121890	0.56097	D	0.000023	T	0.59432	0.2193	L	0.38692	1.165	0.53688	D	0.999975	D;D	0.62365	0.989;0.991	P;D	0.65874	0.9;0.939	T	0.61168	-0.7117	10	0.52906	T	0.07	-34.6898	18.4111	0.90550	0.0:0.0:1.0:0.0	.	261;261	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	L	261	ENSP00000334329:R261L;ENSP00000362288:R261L	ENSP00000334329:R261L	R	+	2	0	UNC5B	72717409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.790000	0.62453	2.345000	0.79718	0.537000	0.68136	CGC		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		9	35	1	0	5.4927e-09	0.004482	6.56935e-09	9	35				
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:75290091C>T	ENST00000339859.4	-	13	1738	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Silent_p.R546R|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000319786.7_Silent_p.R546R|USP54_ENST00000428547.1_Silent_p.R396R|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.R546R(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGGCAGGGTCCTAGGAGGTT	0.507																																					Colon(195;880 2046 8854 25025 38456)	Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|lung(2)|kidney(1)	6						c.(1636-1638)AGG>AGA		ubiquitin specific peptidase 54							134.0	126.0	129.0					10																	75290091		1904	4125	6029	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75290091C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1638G>A	10.37:g.75290091C>T						USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Silent_p.R546R|USP54_uc010qkl.1_Silent_p.R546R	p.R546R	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			12	1655	-	Prostate(51;0.0112)		546					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.1638G>A	CCDS7329.2																																																																																				0.507	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		20	95	0	0	0	0.002299	0	20	95				
KAT6B	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:76736089G>T	ENST00000287239.4	+	8	2482		c.e8+1		KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(2)									CAGGATGATGGTAAGCAAAAG	0.473																																							uc001jwn.1		NA								T					CREBBP		AML		2	Unknown(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.e8+1		MYST histone acetyltransferase (monocytic							30.0	32.0	31.0					10																	76736089		1938	4080	6018	SO:0001630	splice_region_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76736089G>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1993+1G>T	10.37:g.76736089G>T						MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron	p.D665_splice	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			8	2486	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)							O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Splice_Site	SNP	ENST00000287239.4	37	c.1993_splice	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242611	0.58995	.	.	ENSG00000156650	ENST00000287239	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8256	0.92117	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT6B	76406095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.060000	0.93907	2.886000	0.99085	0.650000	0.86243	.		0.473	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	Intron	20	86	1	0	2.41591e-17	0.004656	3.34082e-17	20	86				
LRIT2	340745	broad.mit.edu	37	10	85982088	85982089	+	Missense_Mutation	DNP	CC	CC	AA	rs199824710		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:85982088_85982089CC>AA	ENST00000372113.4	-	3	1245_1246	c.1240_1241GG>TT	c.(1240-1242)GGa>TTa	p.G414L	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAATG	0.554																																							uc001kcy.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1240-1242)GGA>TTA		leucine rich repeat containing 22 precursor																																				SO:0001583	missense	340745					integral to membrane		g.chr10:85982088_85982089CC>AA		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1240_1241delinsAA	10.37:g.85982088_85982089delinsAA	ENSP00000361185:p.Gly414Leu					LRIT2_uc010qmc.1_Missense_Mutation_p.G424L	p.G414L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			3	1248_1249	-			414			Fibronectin type-III.		B7ZME6	Missense_Mutation	DNP	ENST00000372113.4	37	c.1240_1241GG>TT	CCDS31234.1																																																																																				0.554	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		66	85	0	0	0	0.004672	0	66	85				
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:87628799C>A	ENST00000327946.7	-	6	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.D307Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCCTGGGGGTCGCAGAGCAGG	0.582										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(919-921)GAC>TAC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						176.0	129.0	145.0					10																	87628799		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628799C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.919G>T	10.37:g.87628799C>A	ENSP00000330148:p.Asp307Tyr	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.D307Y	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	1020	-			307			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.919G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719329	0.89205	.	.	ENSG00000182771	ENST00000327946	D	0.82803	-1.65	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90512	0.4482	10	0.72032	D	0.01	.	18.8388	0.92174	0.0:1.0:0.0:0.0	.	307	Q9ULK0	GRID1_HUMAN	Y	307	ENSP00000330148:D307Y	ENSP00000330148:D307Y	D	-	1	0	GRID1	87618779	1.000000	0.71417	0.980000	0.43619	0.894000	0.52154	7.742000	0.85008	2.686000	0.91538	0.655000	0.94253	GAC		0.582	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		77	113	1	0	4.02937e-33	0.00361	6.43745e-33	77	113				
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:90486557G>C	ENST00000404190.1	+	2	111	c.111G>C	c.(109-111)caG>caC	p.Q37H		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	37					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.Q37H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTAGAGCCAGATTATTTCTT	0.313																																							uc010qmv.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(109-111)CAG>CAC		lipase, family member K precursor							72.0	68.0	69.0					10																	90486557		1810	4079	5889	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90486557G>C		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.111G>C	10.37:g.90486557G>C	ENSP00000383900:p.Gln37His						p.Q37H	NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	2	111	+		Colorectal(252;0.0381)	37					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.111G>C	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975406	0.53720	.	.	ENSG00000204021	ENST00000404190	D	0.86432	-2.12	5.2	0.42	0.16444	Partial AB-hydrolase lipase domain (1);	.	.	.	.	D	0.93090	0.7800	M	0.92026	3.265	0.26779	N	0.969636	D	0.69078	0.997	D	0.66979	0.948	D	0.84871	0.0825	9	0.72032	D	0.01	-4.6623	8.1327	0.31037	0.5578:0.0:0.4422:0.0	.	37	Q5VXJ0	LIPK_HUMAN	H	37	ENSP00000383900:Q37H	ENSP00000383900:Q37H	Q	+	3	2	LIPK	90476537	0.858000	0.29795	0.981000	0.43875	0.919000	0.55068	0.711000	0.25764	-0.013000	0.14199	0.655000	0.94253	CAG		0.313	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		14	15	0	0	0	0.00499	0	14	15				
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	C	T	rs572704890		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:90499787C>T	ENST00000404190.1	+	7	851	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	284					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.A284V(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACAATCCTGCGGGAACATCT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		16236	0.0		0.0	False		,,,				2504	0.001						uc010qmv.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(850-852)GCG>GTG		lipase, family member K precursor							149.0	143.0	145.0					10																	90499787		1958	4194	6152	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90499787C>T		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.851C>T	10.37:g.90499787C>T	ENSP00000383900:p.Ala284Val						p.A284V	NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	7	851	+		Colorectal(252;0.0381)	284					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.851C>T	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439145	0.43326	.	.	ENSG00000204021	ENST00000404190	T	0.62232	0.04	5.36	1.16	0.20824	Alpha/beta hydrolase fold-1 (1);	0.468411	0.20098	N	0.099298	T	0.80813	0.4695	H	0.96333	3.805	0.09310	N	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.68519	-0.5387	10	0.87932	D	0	-0.9516	3.8524	0.08960	0.4101:0.3778:0.1334:0.0787	.	284	Q5VXJ0	LIPK_HUMAN	V	284	ENSP00000383900:A284V	ENSP00000383900:A284V	A	+	2	0	LIPK	90489767	0.969000	0.33509	0.001000	0.08648	0.358000	0.29455	2.439000	0.44846	0.372000	0.24591	-0.309000	0.09137	GCG		0.423	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		78	182	0	0	0	0.00361	0	78	182				
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:95425130A>T	ENST00000371447.3	+	22	2670	c.2532A>T	c.(2530-2532)tcA>tcT	p.S844S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	844					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.S844S(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTGAAGATTCAGGAGGTGGTG	0.318																																							uc001kiu.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(2530-2532)TCA>TCT		phosphodiesterase 6C							157.0	157.0	157.0					10																	95425130		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95425130A>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2532A>T	10.37:g.95425130A>T							p.S844S	NM_006204	NP_006195	P51160	PDE6C_HUMAN			22	2670	+		Colorectal(252;0.123)	844					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.2532A>T	CCDS7429.1																																																																																				0.318	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		58	163	0	0	0	0.00361	0	58	163				
PLCE1	51196	broad.mit.edu	37	10	96005857	96005858	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:96005857_96005858CA>AG	ENST00000371380.3	+	7	2810_2811	c.2575_2576CA>AG	c.(2575-2577)CAg>AGg	p.Q859R	PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551R|PLCE1_ENST00000260766.3_Missense_Mutation_p.Q859R|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATGTGCACCAGTTCCTGCTG	0.584																																							uc001kjk.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(2575-2577)CAG>AGG		phospholipase C, epsilon 1 isoform 1																																				SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005857_96005858CA>AG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	Exception_encountered	10.37:g.96005857_96005858delinsAG	ENSP00000360431:p.Gln859Arg					PLCE1_uc010qnx.1_Missense_Mutation_p.Q859R|PLCE1_uc001kjm.2_Missense_Mutation_p.Q551R	p.Q859R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			8	3209_3210	+		Colorectal(252;0.0458)	859					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	DNP	ENST00000371380.3	37	c.2575_2576CA>AG	CCDS41552.1																																																																																				0.584	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		78	88	0	0	0	0.004672	0	78	88				
C10orf12	26148	broad.mit.edu	37	10	98743749	98743749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98743749T>A	ENST00000286067.2	+	1	2709	c.2602T>A	c.(2602-2604)Ttt>Att	p.F868I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	868								p.F868I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATGACAAACTTTAAATTATC	0.398																																							uc001kmv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2602-2604)TTT>ATT		hypothetical protein LOC26148							81.0	76.0	78.0					10																	98743749		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743749T>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2602T>A	10.37:g.98743749T>A	ENSP00000286067:p.Phe868Ile						p.F868I	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2709	+		Colorectal(252;0.172)	868					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2602T>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.351035	0.41599	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10573	2.86	5.95	5.95	0.96441	.	0.170535	0.28290	N	0.015886	T	0.24353	0.0590	L	0.47716	1.5	0.38825	D	0.955712	D	0.76494	0.999	D	0.71656	0.974	T	0.01591	-1.1317	10	0.66056	D	0.02	-9.9166	10.7158	0.46011	0.0:0.0707:0.0:0.9293	.	868	Q8N655	CJ012_HUMAN	I	868;702	ENSP00000286067:F868I	ENSP00000286067:F868I	F	+	1	0	C10orf12	98733739	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	5.952000	0.70282	2.285000	0.76669	0.533000	0.62120	TTT		0.398	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		4	123	0	0	0	0.009096	0	4	123				
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612																																							uc001kmw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2080-2082)GGG>AGG		slit homolog 1 precursor							73.0	68.0	70.0					10																	98802742		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98802742C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2080G>A	10.37:g.98802742C>T	ENSP00000266058:p.Gly694Arg					SLIT1_uc009xvh.1_Missense_Mutation_p.G704R	p.G694R	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	20	2332	-		Colorectal(252;0.162)	694			LRRCT 3.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.2080G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544284	0.86022	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.81330	-1.46;-1.48;0.44	4.73	4.73	0.59995	Cysteine-rich flanking region, C-terminal (1);	0.049054	0.85682	D	0.000000	D	0.87341	0.6153	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88727	0.3234	10	0.87932	D	0	.	17.8876	0.88862	0.0:1.0:0.0:0.0	.	704;694	E7EWQ8;O75093	.;SLIT1_HUMAN	R	694;704;694;687	ENSP00000266058:G694R;ENSP00000360109:G694R;ENSP00000315005:G687R	ENSP00000266058:G694R	G	-	1	0	SLIT1	98792732	1.000000	0.71417	0.960000	0.40013	0.680000	0.39746	7.320000	0.79064	2.442000	0.82660	0.561000	0.74099	GGG		0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		17	39	0	0	0	0.00499	0	17	39				
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:100017495G>T	ENST00000260702.3	-	8	1322	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	391	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.P391H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTCCAGGGCAGGGCAGTCGCT	0.582																																							uc001kpa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|skin(1)	5						c.(1171-1173)CCT>CAT		lysyl oxidase-like 4 precursor							135.0	113.0	120.0					10																	100017495		2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100017495G>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1172C>A	10.37:g.100017495G>T	ENSP00000260702:p.Pro391His						p.P391H	NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	8	1323	-		Colorectal(252;0.234)	391			SRCR 3.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.1172C>A	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	G	0.853	-0.737841	0.03111	.	.	ENSG00000138131	ENST00000260702	T	0.44881	0.91	5.35	-1.06	0.10002	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.031410	0.07584	N	0.920772	T	0.33556	0.0867	L	0.52759	1.655	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.28681	-1.0036	10	0.28530	T	0.3	.	6.2931	0.21071	0.0995:0.5179:0.2783:0.1043	.	391	Q96JB6	LOXL4_HUMAN	H	391	ENSP00000260702:P391H	ENSP00000260702:P391H	P	-	2	0	LOXL4	100007485	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.602000	0.05680	-0.445000	0.07159	-0.474000	0.04947	CCT		0.582	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		27	47	1	0	3.09479e-21	0.006999	4.49848e-21	27	47				
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:102763886G>T	ENST00000370220.1	+	2	4094	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	LZTS2_ENST00000370223.3_Missense_Mutation_p.R344L					leucine zipper, putative tumor suppressor 2									p.R344L(2)|p.R207L(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGCAGCTGCGGGACAGTCTG	0.622																																					Esophageal Squamous(8;38 437 13604 19902 37640)	Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|large_intestine(1)|breast(1)	4						c.(1030-1032)CGG>CTG		leucine zipper, putative tumor suppressor 2							38.0	41.0	40.0					10																	102763886		2196	4284	6480	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763886G>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1031G>T	10.37:g.102763886G>T	ENSP00000359240:p.Arg344Leu					LZTS2_uc010qpw.1_Missense_Mutation_p.R344L|LZTS2_uc001ksk.2_Missense_Mutation_p.R344L|LZTS2_uc001ksl.2_Missense_Mutation_p.R344L|LZTS2_uc001ksm.2_RNA	p.R344L	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	1100	+			344			Potential.			Missense_Mutation	SNP	ENST00000370220.1	37	c.1031G>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799770	0.90538	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.43688	0.94;0.94	5.12	5.12	0.69794	.	0.118298	0.53938	D	0.000055	T	0.60932	0.2307	M	0.75085	2.285	0.47441	D	0.999422	D	0.71674	0.998	D	0.67900	0.954	T	0.61874	-0.6973	9	.	.	.	-30.2893	11.9834	0.53133	0.0808:0.0:0.9192:0.0	.	344	Q9BRK4	LZTS2_HUMAN	L	344	ENSP00000359243:R344L;ENSP00000359240:R344L	.	R	+	2	0	LZTS2	102753876	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.527000	0.53517	2.539000	0.85634	0.561000	0.74099	CGG		0.622	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		11	22	1	0	6.31663e-08	0.003163	7.35918e-08	11	22				
C10orf76	79591	broad.mit.edu	37	10	103773753	103773753	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:103773753G>C	ENST00000370033.4	-	9	817	c.698C>G	c.(697-699)tCt>tGt	p.S233C		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	233						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATCCACGATAGACAGCTTCAC	0.378																																							uc009xwy.1		NA																	0					0						c.(697-699)TCT>TGT		hypothetical protein LOC79591							185.0	174.0	178.0					10																	103773753		1923	4132	6055	SO:0001583	missense	79591					integral to membrane		g.chr10:103773753G>C	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.698C>G	10.37:g.103773753G>C	ENSP00000359050:p.Ser233Cys						p.S233C	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	9	800	-		Colorectal(252;0.123)	233					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.698C>G	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208609	0.79240	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80407	0.4617	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83291	-0.0033	9	0.87932	D	0	-10.855	17.0116	0.86408	0.0:0.0:1.0:0.0	.	233	Q5T2E6	CJ076_HUMAN	C	233	.	ENSP00000359050:S233C	S	-	2	0	C10orf76	103763743	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	8.824000	0.92023	2.454000	0.82982	0.655000	0.94253	TCT		0.378	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		6	420	0	0	0	0.004482	0	6	420				
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:103988649A>T	ENST00000370005.3	+	4	674	c.453A>T	c.(451-453)acA>acT	p.T151T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	151					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.T151T(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACCACAGCACAGTGCTCGTGT	0.498																																							uc001kut.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(451-453)ACA>ACT		elongation of very long chain fatty acids like							152.0	140.0	144.0					10																	103988649		2203	4300	6503	SO:0001819	synonymous_variant	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988649A>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.453A>T	10.37:g.103988649A>T							p.T151T	NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	616	+		Colorectal(252;0.207)	151					Q5VZL3|Q8N180	Silent	SNP	ENST00000370005.3	37	c.453A>T	CCDS7531.1																																																																																				0.498	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		37	54	0	0	0	0.003214	0	37	54				
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:104173662C>G	ENST00000020673.5	-	5	1943	c.1417G>C	c.(1417-1419)Gct>Cct	p.A473P	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.A473P	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.A258P(2)|p.A473P(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCATCAGCAGCAGAGCTGGTA	0.662																																							uc001kvg.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(2)|urinary_tract(1)	3						c.(1417-1419)GCT>CCT		pleckstrin and Sec7 domain containing							35.0	41.0	39.0					10																	104173662		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173662C>G	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1417G>C	10.37:g.104173662C>G	ENSP00000020673:p.Ala473Pro					PSD_uc001kvh.1_Missense_Mutation_p.A94P|PSD_uc009xxd.1_Missense_Mutation_p.A473P	p.A473P	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1944	-			473					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1417G>C	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879256	0.51801	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.20069	2.1;2.1	4.65	4.65	0.58169	.	0.613232	0.15801	N	0.243968	T	0.14270	0.0345	N	0.24115	0.695	0.25407	N	0.988393	P	0.46395	0.877	B	0.39299	0.296	T	0.08868	-1.0701	10	0.40728	T	0.16	.	11.1628	0.48526	0.0:0.9146:0.0:0.0854	.	473	A5PKW4	PSD1_HUMAN	P	473;376;473	ENSP00000020673:A473P;ENSP00000384830:A473P	ENSP00000020673:A473P	A	-	1	0	PSD	104163652	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.763000	0.55257	2.154000	0.67381	0.456000	0.33151	GCT		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			8	13	0	0	0	0.001855	0	8	13				
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:105209690G>T	ENST00000260743.5	-	3	532	c.9C>A	c.(7-9)gcC>gcA	p.A3A	CALHM2_ENST00000393235.1_Silent_p.A3A|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Silent_p.A3A|RP11-225H22.4_ENST00000411906.1_RNA|RP11-225H22.7_ENST00000608063.1_RNA	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.A3A(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGCGATCAGGGCTGCCATGG	0.587																																							uc001kwz.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(7-9)GCC>GCA		calcium homeostasis modulator 2							46.0	50.0	49.0					10																	105209690		2130	4236	6366	SO:0001819	synonymous_variant	51063					integral to membrane		g.chr10:105209690G>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.9C>A	10.37:g.105209690G>T						CALHM2_uc001kxa.2_Silent_p.A3A|CALHM2_uc001kxc.2_Silent_p.A3A|CALHM2_uc001kxb.2_Silent_p.A3A|CALHM2_uc001kxd.1_Silent_p.A3A	p.A3A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	395	-			3					D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	c.9C>A	CCDS7549.1																																																																																				0.587	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		19	30	1	0	6.32553e-13	0.004656	8.18152e-13	19	30				
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:106802840C>G	ENST00000369701.3	+	5	1209	c.982C>G	c.(982-984)Cgg>Ggg	p.R328G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	328					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R328G(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTTGGAAGACGGTGGCAACT	0.438																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(982-984)CGG>GGG		VPS10 domain receptor protein SORCS 3 precursor							229.0	207.0	215.0					10																	106802840		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106802840C>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.982C>G	10.37:g.106802840C>G	ENSP00000358715:p.Arg328Gly						p.R328G	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	5	1209	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	328			BNR 3.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.982C>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052221	0.75960	.	.	ENSG00000156395	ENST00000369701	T	0.21734	1.99	5.64	4.63	0.57726	VPS10 (1);	0.127117	0.56097	D	0.000037	T	0.27629	0.0679	L	0.41236	1.265	0.34248	D	0.678481	P	0.51147	0.942	P	0.53760	0.734	T	0.25537	-1.0129	10	0.72032	D	0.01	.	10.7991	0.46478	0.2701:0.7299:0.0:0.0	.	328	Q9UPU3	SORC3_HUMAN	G	328	ENSP00000358715:R328G	ENSP00000358715:R328G	R	+	1	2	SORCS3	106792830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.240000	0.51368	2.823000	0.97156	0.643000	0.83706	CGG		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		187	471	0	0	0	0.00361	0	187	471				
TCF7L2	6934	broad.mit.edu	37	10	114912190	114912190	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:114912190G>T	ENST00000355995.4	+	11	1767	c.1260G>T	c.(1258-1260)cgG>cgT	p.R420R	TCF7L2_ENST00000538897.1_Silent_p.R420R|TCF7L2_ENST00000355717.4_Silent_p.R444R|TCF7L2_ENST00000542695.1_Silent_p.R136R|TCF7L2_ENST00000536810.1_Silent_p.R420R|TCF7L2_ENST00000534894.1_Silent_p.R420R|TCF7L2_ENST00000352065.5_Silent_p.R397R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_Silent_p.R63R|TCF7L2_ENST00000545257.1_Silent_p.R420R|TCF7L2_ENST00000369397.4_Silent_p.R397R|TCF7L2_ENST00000543371.1_Silent_p.R420R|TCF7L2_ENST00000369389.1_Silent_p.R131R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	420					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGTCCGCGCGGGATAACTATG	0.522			T	VTI1A	colorectal																																		uc001lae.3		NA		Dom	yes		10	10q25.3	6934		transcription factor 7-like 2			E					0				large_intestine(3)|ovary(1)	4						c.(1258-1260)CGG>CGT		transcription factor 7-like 2 isoform 1							97.0	104.0	102.0					10																	114912190		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114912190G>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1260G>T	10.37:g.114912190G>T						TCF7L2_uc001lac.3_Silent_p.R397R|TCF7L2_uc010qrk.1_Silent_p.R397R|TCF7L2_uc010qrl.1_Silent_p.R397R|TCF7L2_uc010qrm.1_Silent_p.R420R|TCF7L2_uc010qrn.1_Silent_p.R363R|TCF7L2_uc001lad.3_Silent_p.R393R|TCF7L2_uc001lag.3_Silent_p.R444R|TCF7L2_uc001laf.3_Silent_p.R397R|TCF7L2_uc010qro.1_Silent_p.R397R|TCF7L2_uc001lah.2_Silent_p.R402R|TCF7L2_uc010qrp.1_Silent_p.R397R|TCF7L2_uc010qrq.1_Silent_p.R393R|TCF7L2_uc010qrr.1_Silent_p.R335R|TCF7L2_uc010qrs.1_Silent_p.R291R|TCF7L2_uc010qrt.1_Silent_p.R291R|TCF7L2_uc010qru.1_Silent_p.R319R|TCF7L2_uc010qrv.1_Silent_p.R237R|TCF7L2_uc010qrw.1_Silent_p.R124R|TCF7L2_uc010qrx.1_Silent_p.R277R	p.R420R	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	11	1767	+		Breast(234;0.058)|Colorectal(252;0.0615)	420					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.1260G>T																																																																																					0.522	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		6	320	1	0	8.12818e-05	0.001984	8.93935e-05	6	320				
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	G	T	rs138140121	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:118425181G>T	ENST00000369210.3	-	3	266	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	C10orf82_ENST00000588184.1_Missense_Mutation_p.S71Y	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71								p.S71Y(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CGTCTCCTCGGAGTTGACAGG	0.567																																							uc001lcr.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(211-213)TCC>TAC		hypothetical protein LOC143379							119.0	108.0	112.0					10																	118425181		2203	4300	6503	SO:0001583	missense	143379							g.chr10:118425181G>T	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.212C>A	10.37:g.118425181G>T	ENSP00000358212:p.Ser71Tyr					C10orf82_uc001lcs.1_Missense_Mutation_p.S71Y	p.S71Y	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	3	267	-			71					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	c.212C>A	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173712	0.38413	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.52983	0.64	5.16	4.24	0.50183	.	0.229778	0.31210	N	0.008054	T	0.65974	0.2743	M	0.76574	2.34	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.961	T	0.59894	-0.7368	10	0.72032	D	0.01	-12.3404	11.6677	0.51383	0.0:0.179:0.821:0.0	.	71;71	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	Y	71	ENSP00000358212:S71Y	ENSP00000358212:S71Y	S	-	2	0	C10orf82	118415171	0.968000	0.33430	0.090000	0.20809	0.244000	0.25665	1.675000	0.37555	1.134000	0.42165	0.561000	0.74099	TCC		0.567	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		18	40	1	0	6.44725e-10	0.002299	7.83243e-10	18	40				
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:118960761C>T	ENST00000334549.1	+	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.S105S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCTTCCTGAGCTCGCTCTTTT	0.557																																							uc010qsr.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(313-315)AGC>AGT		potassium channel, subfamily K, member 18							153.0	125.0	134.0					10																	118960761		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118960761C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.315C>T	10.37:g.118960761C>T							p.S105S	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	315	+		Colorectal(252;0.19)	105					Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.315C>T	CCDS7598.1																																																																																				0.557	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		55	74	0	0	0	0.00361	0	55	74				
ADAM12	8038	broad.mit.edu	37	10	127753557	127753557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:127753557C>A	ENST00000368679.4	-	14	1745	c.1436G>T	c.(1435-1437)gGa>gTa	p.G479V	ADAM12_ENST00000368676.4_Missense_Mutation_p.G479V|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	479	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.		G -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G479V(6)|p.G479E(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCACGCTGTTCCTGCAGGCTT	0.607																																							uc001ljk.2		NA																	7	Substitution - Missense(7)	p.G479E(1)	lung(6)|breast(1)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1435-1437)GGA>GTA		ADAM metallopeptidase domain 12 isoform 1							61.0	59.0	60.0					10																	127753557		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127753557C>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1436G>T	10.37:g.127753557C>A	ENSP00000357668:p.Gly479Val					ADAM12_uc010qul.1_Missense_Mutation_p.G430V|ADAM12_uc001ljm.2_Missense_Mutation_p.G479V|ADAM12_uc001ljn.2_Missense_Mutation_p.G476V|ADAM12_uc001ljl.3_Missense_Mutation_p.G476V	p.G479V	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	14	1849	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	479		G -> E (in a breast cancer sample; somatic mutation).	Extracellular (Potential).|Disintegrin.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1436G>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890564	0.52014	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.16196	2.36;2.36	5.26	4.36	0.52297	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.77115	-0.2707	10	0.87932	D	0	.	13.7387	0.62833	0.0:0.9269:0.0:0.0731	.	476;476;479;476;479	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	479	ENSP00000357668:G479V;ENSP00000357665:G479V	ENSP00000357665:G479V	G	-	2	0	ADAM12	127743547	1.000000	0.71417	0.072000	0.20136	0.103000	0.19146	7.558000	0.82253	1.450000	0.47717	0.650000	0.86243	GGA		0.607	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			9	25	1	0	0.000673444	0.008291	0.000722264	9	25				
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:131958334G>T	ENST00000368644.1	+	3	298		c.e3+1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.?(4)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTTTCAAGGTAAGGATAAA	0.368																																							uc001lkm.1		NA																	4	Unknown(4)		lung(4)		0						c.e3+1		glutaredoxin 3							122.0	135.0	131.0					10																	131958334		2203	4300	6503	SO:0001630	splice_region_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131958334G>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.276+1G>T	10.37:g.131958334G>T						GLRX3_uc001lkn.1_Splice_Site_p.K92_splice|GLRX3_uc001lko.2_Splice_Site	p.K92_splice	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	3	298	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)						B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Splice_Site	SNP	ENST00000368644.1	37	c.276_splice	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831899	0.50845	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7048	0.91633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRX3	131848324	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.743000	0.91592	2.673000	0.90976	0.650000	0.86243	.		0.368	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541	Intron	56	117	1	0	1.28914e-47	0.00361	2.23838e-47	56	117				
KRTAP5-5	439915	broad.mit.edu	37	11	1651332	1651332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:1651332G>T	ENST00000399676.2	+	1	300	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	88	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G88C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCAAAGGGGGCTGTGGCTC	0.662																																							uc001lty.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(262-264)GGC>TGC		keratin associated protein 5-5							87.0	105.0	99.0					11																	1651332		2201	4297	6498	SO:0001583	missense	439915					keratin filament		g.chr11:1651332G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.262G>T	11.37:g.1651332G>T	ENSP00000382584:p.Gly88Cys						p.G88C	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	300	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	88			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.262G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	-	10.57	1.388445	0.25118	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01258	5.09	2.78	2.78	0.32641	.	.	.	.	.	T	0.07593	0.0191	M	0.78049	2.395	0.31456	N	0.670164	D	0.89917	1.0	D	0.91635	0.999	T	0.01675	-1.1298	9	0.52906	T	0.07	.	11.8005	0.52124	0.0:0.0:1.0:0.0	.	88	Q701N2	KRA55_HUMAN	C	88;59	ENSP00000382584:G88C	ENSP00000382584:G88C	G	+	1	0	KRTAP5-5	1607908	0.007000	0.16637	0.997000	0.53966	0.597000	0.36814	-0.411000	0.07142	1.533000	0.49186	0.505000	0.49811	GGC		0.662	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			8	107	1	0	5.50884e-06	0.001368	6.22337e-06	8	107				
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4104157C>T	ENST00000300737.4	+	9	1752	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	STIM1_ENST00000527651.1_Missense_Mutation_p.H395Y|STIM1_ENST00000533977.1_Missense_Mutation_p.H222Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	395	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.H395Y(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGCACCTTCCACGTGGCCCA	0.433																																							uc001lyv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1183-1185)CAC>TAC		stromal interaction molecule 1 precursor							109.0	98.0	102.0					11																	4104157		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104157C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1183C>T	11.37:g.4104157C>T	ENSP00000300737:p.His395Tyr					STIM1_uc009yef.2_Missense_Mutation_p.H395Y|STIM1_uc009yeg.2_Missense_Mutation_p.H222Y	p.H395Y	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	9	1751	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	395			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.1183C>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486225	0.63962	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;T;T	0.78924	-0.27;-1.22;-0.26	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	D	0.89104	0.3491	10	0.72032	D	0.01	-26.0278	17.9657	0.89099	0.0:1.0:0.0:0.0	.	395;395	E9PQJ4;Q13586	.;STIM1_HUMAN	Y	395;395;222	ENSP00000300737:H395Y;ENSP00000436208:H395Y;ENSP00000434767:H222Y	ENSP00000300737:H395Y	H	+	1	0	STIM1	4060733	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.476000	0.81055	2.481000	0.83766	0.455000	0.32223	CAC		0.433	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		74	230	0	0	0	0.00361	0	74	230				
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4389399C>A	ENST00000408920.2	-	1	217	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G43W(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCTGTTCCCAAGAAGGGCG	0.522																																							uc010qye.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(127-129)GGG>TGG		olfactory receptor, family 52, subfamily B,							64.0	69.0	67.0					11																	4389399		2113	4252	6365	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389399C>A	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.127G>T	11.37:g.4389399C>A	ENSP00000386160:p.Gly43Trp						p.G43W	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	127	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	43			Helical; Name=1; (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.127G>T	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502501	0.26949	.	.	ENSG00000221996	ENST00000408920	T	0.57107	0.42	4.94	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.79257	0.4415	H	0.95745	3.715	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73206	-0.4056	10	0.87932	D	0	.	13.4901	0.61390	0.1565:0.8435:0.0:0.0	.	43	Q8NGK2	O52B4_HUMAN	W	43	ENSP00000386160:G43W	ENSP00000386160:G43W	G	-	1	0	OR52B4	4345975	0.008000	0.16893	0.872000	0.34217	0.019000	0.09904	2.381000	0.44336	2.566000	0.86566	0.655000	0.94253	GGG		0.522	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		36	294	1	0	2.05212e-20	0.005524	2.94719e-20	36	294				
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4510989C>G	ENST00000307632.3	+	1	881	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTTTCCCACCCATGGTCAA	0.463																																							uc001lza.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(859-861)CCC>GCC		olfactory receptor, family 52, subfamily K,							166.0	151.0	156.0					11																	4510989		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510989C>G	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.859C>G	11.37:g.4510989C>G	ENSP00000302422:p.Pro287Ala						p.P287A	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	859	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	287			Helical; Name=7; (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.859C>G	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846439	0.51164	.	.	ENSG00000196778	ENST00000307632	T	0.00340	8.04	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000257	T	0.00440	0.0014	M	0.77103	2.36	0.39162	D	0.962427	P	0.38020	0.615	B	0.39706	0.307	T	0.76052	-0.3100	10	0.72032	D	0.01	.	16.3005	0.82807	0.0:1.0:0.0:0.0	.	287	Q8NGK4	O52K1_HUMAN	A	287	ENSP00000302422:P287A	ENSP00000302422:P287A	P	+	1	0	OR52K1	4467565	0.000000	0.05858	1.000000	0.80357	0.573000	0.36030	0.419000	0.21247	2.487000	0.83934	0.411000	0.27672	CCC		0.463	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		126	522	0	0	0	0.00361	0	126	522				
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4661635C>G	ENST00000357605.2	+	1	691	c.615C>G	c.(613-615)acC>acG	p.T205T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T205T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTGACACCAGGGTCAATG	0.468																																							uc010qyk.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(613-615)ACC>ACG		olfactory receptor, family 51, subfamily D,							283.0	237.0	253.0					11																	4661635		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661635C>G	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.615C>G	11.37:g.4661635C>G							p.T205T	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	615	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	205			Extracellular (Potential).		B9EIK4	Silent	SNP	ENST00000357605.2	37	c.615C>G	CCDS31357.1																																																																																				0.468	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		220	506	0	0	0	0.00361	0	220	506				
OR51Q1	390061	broad.mit.edu	37	11	5444315	5444315	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:5444315T>A	ENST00000300778.4	+	1	975	c.885T>A	c.(883-885)agT>agA	p.S295R	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_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)	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S295R(2)		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)		TCATTTACAGTGTAAAGAACA	0.428																																							uc010qzd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(883-885)AGT>AGA		olfactory receptor, family 51, subfamily Q,							65.0	64.0	64.0					11																	5444315		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444315T>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	ENST00000300778.4:c.885T>A	11.37:g.5444315T>A	ENSP00000300778:p.Ser295Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S295R	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	885	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	295			Helical; Name=7; (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.885T>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450007	0.26074	.	.	ENSG00000167360	ENST00000300778	T	0.39229	1.09	5.0	2.62	0.31277	.	0.094168	0.48286	D	0.000191	T	0.50343	0.1610	H	0.96208	3.785	0.37428	D	0.913929	B	0.22746	0.074	B	0.17979	0.02	T	0.64943	-0.6288	10	0.72032	D	0.01	.	4.2017	0.10469	0.0:0.1744:0.2985:0.5271	.	295	Q8NH59	O51Q1_HUMAN	R	295	ENSP00000300778:S295R	ENSP00000300778:S295R	S	+	3	2	OR51Q1	5400891	0.000000	0.05858	1.000000	0.80357	0.481000	0.33189	-1.288000	0.02783	2.133000	0.65898	0.311000	0.20440	AGT		0.428	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		23	162	0	0	0	0.003954	0	23	162				
NLRP14	338323	broad.mit.edu	37	11	7092508	7092508	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:7092508A>T	ENST00000299481.4	+	12	3597	c.3251A>T	c.(3250-3252)gAa>gTa	p.E1084V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1084					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCATAATGAAGAAGATGTG	0.363																																							uc001mfb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(3250-3252)GAA>GTA		NLR family, pyrin domain containing 14							118.0	113.0	115.0					11																	7092508		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7092508A>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.3251A>T	11.37:g.7092508A>T	ENSP00000299481:p.Glu1084Val						p.E1084V	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	12	3574	+			1084					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.3251A>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	9.639	1.138387	0.21123	.	.	ENSG00000158077	ENST00000299481	T	0.71341	-0.56	3.9	2.72	0.32119	.	0.681405	0.12154	N	0.494606	T	0.54515	0.1863	L	0.32530	0.975	0.19300	N	0.999973	P	0.44877	0.845	B	0.36244	0.22	T	0.46978	-0.9152	10	0.62326	D	0.03	.	7.2227	0.25997	0.7725:0.2275:0.0:0.0	.	1084	Q86W24	NAL14_HUMAN	V	1084	ENSP00000299481:E1084V	ENSP00000299481:E1084V	E	+	2	0	NLRP14	7049084	0.015000	0.18098	0.397000	0.26308	0.409000	0.31022	0.694000	0.25512	0.803000	0.34113	0.533000	0.62120	GAA		0.363	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		9	139	0	0	0	0.008291	0	9	139				
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:15243085G>T	ENST00000379554.3	+	8	1069	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	INSC_ENST00000525218.1_Silent_p.R252R|INSC_ENST00000424273.1_Silent_p.R252R|INSC_ENST00000530161.1_Silent_p.R294R|INSC_ENST00000528567.1_Silent_p.R294R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Silent_p.R294R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	341					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.R341R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCCACACGGGCTGAGGCTG	0.637																																							uc001mly.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1021-1023)CGG>CGT		inscuteable isoform a							54.0	62.0	59.0					11																	15243085		2131	4231	6362	SO:0001819	synonymous_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15243085G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1023G>T	11.37:g.15243085G>T						INSC_uc001mlz.2_Silent_p.R294R|INSC_uc001mma.2_Silent_p.R294R|INSC_uc010rcs.1_Silent_p.R329R|INSC_uc001mmb.2_Silent_p.R294R|INSC_uc001mmc.2_Silent_p.R252R	p.R341R	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			8	1069	+			341					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	c.1023G>T	CCDS41621.1																																																																																				0.637	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		19	57	1	0	2.97696e-44	0.00361	5.11147e-44	19	57				
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:18159297G>A	ENST00000396275.2	+	3	909	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W183*(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAATCGCGTGGCTGGTTTTT	0.512																																							uc001mnu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(547-549)TGG>TAG		MAS-related GPR, member X3							160.0	146.0	151.0					11																	18159297		2200	4293	6493	SO:0001587	stop_gained	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159297G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.548G>A	11.37:g.18159297G>A	ENSP00000379571:p.Trp183*						p.W183*	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	909	+			183			Helical; Name=5; (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Nonsense_Mutation	SNP	ENST00000396275.2	37	c.548G>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945597	0.34377	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	.	.	.	1.46	0.489	0.16854	.	1.224290	0.05743	N	0.601678	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9438	0.13978	0.0:0.0:0.6451:0.3549	.	.	.	.	X	183	.	ENSP00000379571:W183X	W	+	2	0	MRGPRX3	18115873	0.750000	0.28316	0.001000	0.08648	0.001000	0.01503	0.673000	0.25203	0.175000	0.19841	-0.511000	0.04467	TGG		0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		20	173	0	0	0	0.002299	0	20	173				
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	C	A	rs116891792		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:18754824C>A	ENST00000358540.2	-	11	1606	c.1176G>T	c.(1174-1176)acG>acT	p.T392T	PTPN5_ENST00000396167.2_Silent_p.T360T|PTPN5_ENST00000477854.1_Silent_p.T196T|PTPN5_ENST00000396170.1_Silent_p.T360T|PTPN5_ENST00000396171.4_Silent_p.T392T|PTPN5_ENST00000396166.3_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Silent_p.T368T	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	392	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.T392T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAATGATGGGCGTGTGCTCCT	0.577																																							uc001mpd.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(1174-1176)ACG>ACT		protein-tyrosine-phosphatase non-receptor 5							172.0	139.0	150.0					11																	18754824		2199	4293	6492	SO:0001819	synonymous_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18754824C>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1176G>T	11.37:g.18754824C>A						PTPN5_uc001mpb.2_Silent_p.T360T|PTPN5_uc001mpc.2_Silent_p.T392T|PTPN5_uc001mpe.2_Silent_p.T360T|PTPN5_uc010rdj.1_Silent_p.T336T|PTPN5_uc001mpf.2_Silent_p.T368T|PTPN5_uc010rdk.1_Silent_p.T337T	p.T392T	NM_006906	NP_008837	P54829	PTN5_HUMAN			11	1607	-			392			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	c.1176G>T	CCDS7845.1																																																																																				0.577	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		13	92	1	0	1.02788e-11	0.00499	1.29233e-11	13	92				
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:20628585G>T	ENST00000525748.1	+	4	985	c.712G>T	c.(712-714)Gct>Tct	p.A238S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	238					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A238S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATGATGCTGGCTCTGGCTGG	0.567																																							uc001mqd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(712-714)GCT>TCT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						128.0	114.0	118.0					11																	20628585		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20628585G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.712G>T	11.37:g.20628585G>T	ENSP00000434364:p.Ala238Ser					SLC6A5_uc009yic.2_Missense_Mutation_p.A3S	p.A238S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			4	985	+			238			Helical; Name=2; (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.712G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231008	0.95207	.	.	ENSG00000165970	ENST00000525748	T	0.74632	-0.86	5.55	5.55	0.83447	.	0.046641	0.85682	D	0.000000	T	0.80529	0.4640	M	0.68593	2.085	0.80722	D	1	P	0.45768	0.866	P	0.48873	0.593	T	0.81841	-0.0747	10	0.62326	D	0.03	.	19.456	0.94889	0.0:0.0:1.0:0.0	.	238	Q9Y345	SC6A5_HUMAN	S	238	ENSP00000434364:A238S	ENSP00000434364:A238S	A	+	1	0	SLC6A5	20585161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.767000	0.95098	0.655000	0.94253	GCT		0.567	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		41	66	1	0	8.30282e-39	0.00361	1.37955e-38	41	66				
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:22707259G>T	ENST00000454584.2	+	3	496	c.191G>T	c.(190-192)gGt>gTt	p.G64V	RNA5SP338_ENST00000410495.1_RNA|GAS2_ENST00000433790.1_Missense_Mutation_p.G64V|GAS2_ENST00000278187.3_Missense_Mutation_p.G64V|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.G64V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTGGACAATGGTGCCTTGCTC	0.383																																							uc009yie.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(190-192)GGT>GTT		growth arrest-specific 2							119.0	116.0	117.0					11																	22707259		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22707259G>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.191G>T	11.37:g.22707259G>T	ENSP00000401145:p.Gly64Val					GAS2_uc001mqm.2_Missense_Mutation_p.G64V|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.G64V	p.G64V	NM_001143830	NP_001137302	O43903	GAS2_HUMAN			3	497	+			64			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.191G>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520304	0.85495	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.42	5.42	0.78866	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97994	1.0356	10	0.87932	D	0	-12.865	19.5786	0.95455	0.0:0.0:1.0:0.0	.	64	O43903	GAS2_HUMAN	V	64	ENSP00000432584:G64V;ENSP00000401145:G64V;ENSP00000434478:G64V;ENSP00000278187:G64V;ENSP00000433182:G64V;ENSP00000435946:G64V;ENSP00000396708:G64V	ENSP00000278187:G64V	G	+	2	0	GAS2	22663835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.495000	0.90481	2.711000	0.92665	0.655000	0.94253	GGT		0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		25	149	1	0	1.2476e-16	0.00632	1.71426e-16	25	149				
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:30032330C>A	ENST00000328224.6	-	2	3129	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	632					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TGTCATCCCCCTTTCCCTGAC	0.483																																							uc001msk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1894-1896)AAG>AAT		potassium voltage-gated channel, shaker-related							132.0	133.0	132.0					11																	30032330		1946	4145	6091	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032330C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1896G>T	11.37:g.30032330C>A	ENSP00000328511:p.Lys632Asn						p.K632N	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	3048	-			632						Missense_Mutation	SNP	ENST00000328224.6	37	c.1896G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	8.372	0.835524	0.16820	.	.	ENSG00000182255	ENST00000328224	D	0.96913	-4.17	5.7	3.83	0.44106	.	0.349077	0.31709	N	0.007194	D	0.88851	0.6549	N	0.08118	0	0.38037	D	0.935358	B	0.06786	0.001	B	0.06405	0.002	D	0.84572	0.0656	10	0.33940	T	0.23	.	8.085	0.30767	0.0:0.67:0.0:0.33	.	632	P22459	KCNA4_HUMAN	N	632	ENSP00000328511:K632N	ENSP00000328511:K632N	K	-	3	2	KCNA4	29988906	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.683000	0.25349	1.406000	0.46857	0.655000	0.94253	AAG		0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		58	147	1	0	7.48145e-19	0.00361	1.05897e-18	58	147				
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:33054339G>A	ENST00000241051.3	+	7	1355	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	DEPDC7_ENST00000311388.3_Splice_Site_p.K412K	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	421					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)		p.K421K(2)|p.K412K(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATGTTTTTAAGGTAAAATTGT	0.294																																							uc001mub.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|skin(1)	2						c.(1261-1263)AAG>AAA		novel 58.3 KDA protein isoform 1							106.0	108.0	108.0					11																	33054339		1803	4063	5866	SO:0001630	splice_region_variant	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33054339G>A		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1263+1G>A	11.37:g.33054339G>A						DEPDC7_uc001muc.2_Silent_p.K412K	p.K421K	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN			7	1355	+			421					G5E941|Q8N602|Q8NCU9|Q9UGK5	Silent	SNP	ENST00000241051.3	37	c.1263G>A	CCDS41632.1																																																																																				0.294	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160	Silent	18	88	0	0	0	0.00333	0	18	88				
KIAA1549L	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:33565835C>A	ENST00000321505.4	+	1	2015	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T612N|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T612N			Q6ZVL6	K154L_HUMAN	KIAA1549-like	612						integral component of membrane (GO:0016021)		p.T612N(4)									TTTCCCAGGACCTCCTCCAGA	0.502																																							uc001mup.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1834-1836)ACC>AAC		hypothetical protein LOC25758							130.0	125.0	127.0					11																	33565835		1895	4125	6020	SO:0001583	missense	25758					integral to membrane		g.chr11:33565835C>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1835C>A	11.37:g.33565835C>A	ENSP00000315295:p.Thr612Asn					C11orf41_uc001mun.1_Missense_Mutation_p.T612N	p.T612N	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	1959	+			612					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1835C>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	6.426	0.446778	0.12223	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.5	3.52	0.40303	.	0.378221	0.25372	N	0.031154	T	0.34861	0.0912	L	0.57536	1.79	0.09310	N	1	B;P	0.39759	0.054;0.687	B;B	0.37833	0.052;0.259	T	0.13926	-1.0491	9	0.23302	T	0.38	-7.6108	8.43	0.32753	0.1527:0.7695:0.0:0.0778	.	612;612	E9PAT2;Q6ZVL6-2	.;.	N	612;612;612;452	.	ENSP00000265654:T612N	T	+	2	0	C11orf41	33522411	0.800000	0.28916	0.984000	0.44739	0.233000	0.25261	1.310000	0.33551	1.321000	0.45227	0.442000	0.29010	ACC		0.502	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		26	388	1	0	7.26314e-15	0.007291	9.58948e-15	26	388				
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:36597537G>T	ENST00000299440.5	+	2	2795	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	895					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V895L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGAAACCAGTATGGCGATC	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2683-2685)GTA>TTA		recombination activating gene 1							144.0	135.0	138.0					11																	36597537		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597537G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2683G>T	11.37:g.36597537G>T	ENSP00000299440:p.Val895Leu					RAG1_uc001mwt.2_RNA	p.V895L	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2807	+	all_lung(20;0.226)	all_hematologic(20;0.107)	895					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2683G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718550	0.48622	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88586	-2.4;-2.4	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	H	0.94925	3.6	0.80722	D	1	D	0.56035	0.974	D	0.72625	0.978	D	0.96861	0.9632	10	0.87932	D	0	.	19.9978	0.97390	0.0:0.0:1.0:0.0	.	895	P15918	RAG1_HUMAN	L	895	ENSP00000434610:V895L;ENSP00000299440:V895L	ENSP00000299440:V895L	V	+	1	0	RAG1	36554113	1.000000	0.71417	0.099000	0.21106	0.013000	0.08279	9.476000	0.97823	2.725000	0.93324	0.644000	0.83932	GTA		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		47	521	1	0	2.84144e-21	0.00361	4.13578e-21	47	521				
EXT2	2132	broad.mit.edu	37	11	44228501	44228502	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:44228501_44228502GG>TT	ENST00000343631.3	+	10	1783_1784	c.1654_1655GG>TT	c.(1654-1656)GGt>TTt	p.G552F	EXT2_ENST00000533608.1_Missense_Mutation_p.G552F|EXT2_ENST00000358681.4_Missense_Mutation_p.G562F|EXT2_ENST00000395673.3_Missense_Mutation_p.G585F			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGCAATTTGGTTATGAGGTA	0.351			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																														uc001mxz.2		NA	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			4	Substitution - Missense(4)		lung(4)	lung(2)|breast(2)|skin(1)	5						c.(1654-1656)GGT>TTT		exostosin 2 isoform 2																																				SO:0001583	missense	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44228501_44228502GG>TT		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	Exception_encountered	11.37:g.44228501_44228502delinsTT	ENSP00000342656:p.Gly552Phe					EXT2_uc010rfo.1_Missense_Mutation_p.G580F|EXT2_uc001mxy.2_Missense_Mutation_p.G565F|EXT2_uc009ykt.2_Missense_Mutation_p.G562F|EXT2_uc001mya.2_Missense_Mutation_p.G585F	p.G552F	NM_207122	NP_997005	Q93063	EXT2_HUMAN			10	1988_1989	+			552			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	DNP	ENST00000343631.3	37	c.1654_1655GG>TT	CCDS7908.1																																																																																				0.351	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		71	319	0	0	0	0.004672	0	71	319				
OR4B1	119765	broad.mit.edu	37	11	48238932	48238932	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:48238932T>C	ENST00000309562.2	+	1	589	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGACACCTTCATGGAGGG	0.453																																							uc010rhs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(571-573)TTC>CTC		olfactory receptor, family 4, subfamily B,							168.0	148.0	155.0					11																	48238932		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238932T>C	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.571T>C	11.37:g.48238932T>C	ENSP00000311605:p.Phe191Leu						p.F191L	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	571	+			191			Extracellular (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.571T>C	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	T	9.441	1.088067	0.20390	.	.	ENSG00000175619	ENST00000309562	T	0.00137	8.68	5.54	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.492565	0.18961	N	0.126391	T	0.00178	0.0005	L	0.31752	0.955	0.09310	N	1	B	0.31859	0.343	B	0.39339	0.297	T	0.29971	-0.9994	10	0.62326	D	0.03	.	10.0234	0.42057	0.1512:0.0:0.0:0.8488	.	191	Q8NGF8	OR4B1_HUMAN	L	191	ENSP00000311605:F191L	ENSP00000311605:F191L	F	+	1	0	OR4B1	48195508	0.000000	0.05858	0.134000	0.22075	0.015000	0.08874	0.053000	0.14184	0.882000	0.36016	0.416000	0.27883	TTC		0.453	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		19	572	0	0	0	0.001882	0	19	572				
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:55135664C>A	ENST00000314706.3	+	1	305	c.305C>A	c.(304-306)tCt>tAt	p.S102Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S102Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCGTCTATTCTACTGCATTT	0.413																																							uc010rif.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(304-306)TCT>TAT		olfactory receptor, family 4, subfamily A,							134.0	132.0	132.0					11																	55135664		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135664C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.305C>A	11.37:g.55135664C>A	ENSP00000325065:p.Ser102Tyr						p.S102Y	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	305	+			102			Helical; Name=2; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.305C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.715959	0.30413	.	.	ENSG00000181958	ENST00000314706	T	0.00840	5.63	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.133859	0.34507	N	0.003901	T	0.04272	0.0118	H	0.97896	4.1	0.09310	N	1	B	0.32604	0.377	B	0.33890	0.172	T	0.06588	-1.0818	10	0.87932	D	0	.	12.5491	0.56216	0.0:1.0:0.0:0.0	.	102	Q8NGL6	O4A15_HUMAN	Y	102	ENSP00000325065:S102Y	ENSP00000325065:S102Y	S	+	2	0	OR4A15	54892240	0.000000	0.05858	0.030000	0.17652	0.317000	0.28152	0.040000	0.13905	1.785000	0.52413	0.492000	0.49549	TCT		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		132	459	1	0	1.38722e-55	0.00361	2.4682e-55	132	459				
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:55563649C>T	ENST00000335605.1	+	1	618	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T206T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTTCGCCACCTTCAATGAGA	0.433																																							uc010rim.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(616-618)ACC>ACT		olfactory receptor, family 5, subfamily D,							210.0	199.0	203.0					11																	55563649		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563649C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.618C>T	11.37:g.55563649C>T							p.T206T	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	618	+		all_epithelial(135;0.196)	206			Helical; Name=5; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.618C>T	CCDS31508.1																																																																																				0.433	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		27	323	0	0	0	0.002096	0	27	323				
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:56128272C>A	ENST00000303039.3	+	1	582	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L184M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TAATGTTCCTCTGTTAGCATT	0.333																																							uc010rjh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(550-552)CTG>ATG		olfactory receptor, family 8, subfamily J,							147.0	133.0	138.0					11																	56128272		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128272C>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.550C>A	11.37:g.56128272C>A	ENSP00000304060:p.Leu184Met						p.L184M	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	550	+	Esophageal squamous(21;0.00448)		184			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.550C>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621455	0.28889	.	.	ENSG00000172487	ENST00000303039	T	0.00224	8.51	3.91	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.00496	0.0016	M	0.82132	2.575	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34700	-0.9818	10	0.87932	D	0	.	9.2571	0.37590	0.0:0.8154:0.0:0.1846	.	184	Q8NGP2	OR8J1_HUMAN	M	184	ENSP00000304060:L184M	ENSP00000304060:L184M	L	+	1	2	OR8J1	55884848	0.000000	0.05858	0.970000	0.41538	0.691000	0.40173	-1.710000	0.01888	0.990000	0.38787	-0.311000	0.09066	CTG		0.333	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		53	158	1	0	2.93687e-30	0.00361	4.65077e-30	53	158				
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:56510307T>C	ENST00000302957.3	-	1	980	c.981A>G	c.(979-981)acA>acG	p.T327T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	327						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T327T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACCTTCATGTTTGTGGTT	0.363																																							uc010rjo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(979-981)ACA>ACG		olfactory receptor, family 9, subfamily G,							178.0	157.0	164.0					11																	56510307		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510307T>C	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.981A>G	11.37:g.56510307T>C							p.T327T	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	981	-			327			Cytoplasmic (Potential).		Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.981A>G	CCDS31537.1																																																																																				0.363	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		79	275	0	0	0	0.00361	0	79	275				
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:59224639T>C	ENST00000300127.2	+	1	229	c.206T>C	c.(205-207)cTg>cCg	p.L69P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L69P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AAATCAGTCCTGGACATCGTT	0.463																																							uc010rku.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(205-207)CTG>CCG		olfactory receptor, family 4, subfamily D,							142.0	120.0	127.0					11																	59224639		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224639T>C	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.206T>C	11.37:g.59224639T>C	ENSP00000300127:p.Leu69Pro						p.L69P	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	206	+			69			Helical; Name=2; (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.206T>C	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391949	0.42410	.	.	ENSG00000166884	ENST00000300127	T	0.14893	2.47	6.01	6.01	0.97437	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000876	T	0.41650	0.1168	M	0.80422	2.495	0.26946	N	0.966138	D	0.56968	0.978	P	0.59825	0.864	T	0.43426	-0.9392	10	0.87932	D	0	-9.4806	15.3555	0.74423	0.0:0.0:0.0:1.0	.	69	Q8NGJ1	OR4D6_HUMAN	P	69	ENSP00000300127:L69P	ENSP00000300127:L69P	L	+	2	0	OR4D6	58981215	0.020000	0.18652	0.611000	0.29010	0.352000	0.29268	2.127000	0.42035	2.299000	0.77371	0.533000	0.62120	CTG		0.463	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		38	163	0	0	0	0.00623	0	38	163				
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:60636728G>T	ENST00000278853.5	+	2	307	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	103					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.V103L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGCCACGTGCTGGAGAA	0.572																																							uc001nqd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(307-309)GTG>TTG		zona pellucida glycoprotein 1 precursor							47.0	46.0	46.0					11																	60636728		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60636728G>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.307G>T	11.37:g.60636728G>T	ENSP00000278853:p.Val103Leu					ZP1_uc001nqe.2_5'Flank	p.V103L	NM_207341	NP_997224	P60852	ZP1_HUMAN			2	327	+			103			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000278853.5	37	c.307G>T	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.290044	0.40494	.	.	ENSG00000149506	ENST00000278853	T	0.56103	0.48	4.08	2.2	0.27929	.	0.143577	0.46442	D	0.000292	T	0.46405	0.1391	M	0.65498	2.005	0.28711	N	0.903545	P	0.49185	0.92	B	0.40565	0.333	T	0.50355	-0.8838	10	0.87932	D	0	-6.5326	7.4558	0.27266	0.2745:0.0:0.7255:0.0	.	103	P60852	ZP1_HUMAN	L	103	ENSP00000278853:V103L	ENSP00000278853:V103L	V	+	1	0	ZP1	60393304	0.997000	0.39634	0.999000	0.59377	0.231000	0.25187	1.337000	0.33862	0.384000	0.24942	-0.384000	0.06662	GTG		0.572	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		4	17	1	0	0.00116845	0.001168	0.00123961	4	17				
CYB561A3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:61121427C>G	ENST00000294072.4	-	4	899	c.222G>C	c.(220-222)ggG>ggC	p.G74G	CYB561A3_ENST00000536915.1_Silent_p.G74G|CYB561A3_ENST00000426130.2_Silent_p.G91G|CYB561A3_ENST00000447532.2_Silent_p.G74G|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000539890.1_Intron	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	74	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.G91G(2)|p.G74G(2)									GCAGTTTGGGCCCCACCCACG	0.607																																							uc001nrf.3		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(220-222)GGG>GGC		cytochrome b, ascorbate dependent 3 isoform 2							112.0	94.0	100.0					11																	61121427		2203	4299	6502	SO:0001819	synonymous_variant	220002				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity	g.chr11:61121427C>G	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.222G>C	11.37:g.61121427C>G						CYBASC3_uc010rlh.1_Silent_p.G91G|CYBASC3_uc001nrg.2_Silent_p.G74G|CYBASC3_uc009ynn.2_Intron|CYBASC3_uc001nrh.2_Silent_p.G74G|CYBASC3_uc001nri.2_RNA|CYBASC3_uc009yno.2_Silent_p.G74G	p.G74G	NM_001161452	NP_001154924	Q8NBI2	CYAC3_HUMAN			2	398	-			74			Cytochrome b561.		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Silent	SNP	ENST00000294072.4	37	c.222G>C	CCDS8004.1																																																																																				0.607	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		13	53	0	0	0	0.00499	0	13	53				
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62398602C>A	ENST00000356638.3	-	10	1066	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	GANAB_ENST00000534779.1_Missense_Mutation_p.Q258H|GANAB_ENST00000540933.1_Missense_Mutation_p.Q253H|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000346178.4_Missense_Mutation_p.Q372H	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	350					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.Q350H(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GAACATCTGTCTGTGGGGTCT	0.547																																					Melanoma(23;1005 1074 15747 18937)	Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1048-1050)CAG>CAT		neutral alpha-glucosidase AB isoform 2							263.0	254.0	257.0					11																	62398602		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62398602C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1050G>T	11.37:g.62398602C>A	ENSP00000349053:p.Gln350His					GANAB_uc001nua.2_Missense_Mutation_p.Q372H|GANAB_uc001nuc.2_Missense_Mutation_p.Q253H|GANAB_uc010rma.1_Missense_Mutation_p.Q258H|GANAB_uc010rmb.1_Missense_Mutation_p.Q236H	p.Q350H	NM_198334	NP_938148	Q14697	GANAB_HUMAN			10	1083	-			350					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1050G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554656	0.45487	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88818	-2.37;-2.32;-2.43;-2.38	5.27	4.35	0.52113	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	L	0.48986	1.54	0.58432	D	0.999993	B;B;B;B	0.24368	0.102;0.102;0.056;0.047	B;B;B;B	0.22386	0.029;0.029;0.017;0.039	T	0.82688	-0.0333	10	0.52906	T	0.07	-21.5824	11.5506	0.50719	0.0:0.9136:0.0:0.0864	.	236;258;350;372	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	H	372;350;258;253	ENSP00000340466:Q372H;ENSP00000349053:Q350H;ENSP00000435306:Q258H;ENSP00000442962:Q253H	ENSP00000340466:Q372H	Q	-	3	2	GANAB	62155178	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.616000	0.24344	1.452000	0.47756	0.563000	0.77884	CAG		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		110	323	1	0	1.22493e-33	0.00361	1.96864e-33	110	323				
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62569274G>A	ENST00000532297.1	-	7	1205	c.576C>T	c.(574-576)aaC>aaT	p.N192N	NXF1_ENST00000439713.2_Silent_p.N192N|NXF1_ENST00000531131.1_Silent_p.N55N|NXF1_ENST00000531709.2_Silent_p.N192N|NXF1_ENST00000294172.2_Silent_p.N192N			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	192	Interaction with ALYREF/THOC4.|RRM.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N192N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGAAGAGTTGATGATGA	0.488																																							uc001nvf.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)	3						c.(574-576)AAC>AAT		nuclear RNA export factor 1 isoform 1							163.0	160.0	161.0					11																	62569274		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569274G>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.576C>T	11.37:g.62569274G>A						NXF1_uc001nvg.1_Silent_p.N192N|NXF1_uc009yog.1_Silent_p.N235N|NXF1_uc010rmh.1_Silent_p.N55N	p.N192N	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			6	712	-			192			Interaction with THOC4.|RRM.		B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.576C>T	CCDS8037.1																																																																																				0.488	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		40	224	0	0	0	0.002852	0	40	224				
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62749428T>A	ENST00000377871.3	-	4	949	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SLC22A6_ENST00000421062.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.Y228F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.Y228F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	228					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Y228F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCTGTAGACATAGCCAATCAA	0.592																																							uc001nwk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(682-684)TAT>TTT		solute carrier family 22 member 6 isoform a							67.0	55.0	59.0					11																	62749428		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62749428T>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.683A>T	11.37:g.62749428T>A	ENSP00000367102:p.Tyr228Phe					SLC22A6_uc001nwl.2_Missense_Mutation_p.Y228F|SLC22A6_uc001nwj.2_Missense_Mutation_p.Y228F|SLC22A6_uc001nwm.2_Missense_Mutation_p.Y228F	p.Y228F	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			4	990	-			228			Helical; (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.683A>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921156	0.52653	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	L	0.39020	1.185	0.36406	D	0.863436	B;B;B;B	0.31519	0.327;0.327;0.225;0.327	B;B;B;B	0.37550	0.164;0.164;0.253;0.164	T	0.64089	-0.6489	10	0.21014	T	0.42	.	11.0867	0.48091	0.0:0.0:0.0:1.0	.	228;228;228;228	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	F	228;207;228;228;228	ENSP00000353597:Y228F;ENSP00000367102:Y228F;ENSP00000396401:Y228F;ENSP00000404441:Y228F	ENSP00000353597:Y228F	Y	-	2	0	SLC22A6	62506004	0.804000	0.28969	0.992000	0.48379	0.962000	0.63368	1.109000	0.31135	2.121000	0.65114	0.402000	0.26972	TAT		0.592	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		17	68	0	0	0	0.007413	0	17	68				
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	G	A	rs546886162		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:66001697G>A	ENST00000320580.4	+	17	2121	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S	PACS1_ENST00000529757.1_Silent_p.S232S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.S696S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAGTCGCTCGGAGCCACCAG	0.567																																							uc001oha.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)	6						c.(2086-2088)TCG>TCA		phosphofurin acidic cluster sorting protein 1							99.0	92.0	94.0					11																	66001697		2200	4295	6495	SO:0001819	synonymous_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66001697G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2088G>A	11.37:g.66001697G>A						PACS1_uc010rou.1_Silent_p.S232S	p.S696S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			17	2222	+			696					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	c.2088G>A	CCDS8129.1																																																																																				0.567	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		22	136	0	0	0	0.00278	0	22	136				
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:74899193C>A	ENST00000289575.5	+	8	1380	c.985C>A	c.(985-987)Ccc>Acc	p.P329T	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P307T|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P185T|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P102T|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P213T|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P102T|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.P74T|SLCO2B1_ENST00000526660.1_3'UTR	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CAAGGACTCTCCCTCTAAGCA	0.557																																							uc001owb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(985-987)CCC>ACC		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						90.0	71.0	77.0					11																	74899193		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74899193C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.985C>A	11.37:g.74899193C>A	ENSP00000289575:p.Pro329Thr					SLCO2B1_uc010rrq.1_Missense_Mutation_p.P74T|SLCO2B1_uc010rrr.1_Missense_Mutation_p.P185T|SLCO2B1_uc010rrs.1_Missense_Mutation_p.P213T|SLCO2B1_uc001owc.2_Missense_Mutation_p.P102T|SLCO2B1_uc001owd.2_Missense_Mutation_p.P307T	p.P329T	NM_007256	NP_009187	O94956	SO2B1_HUMAN			8	1372	+			329			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.985C>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	9.848	1.192924	0.21954	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	4.24	-0.242	0.13039	Major facilitator superfamily domain, general substrate transporter (1);	5.707160	0.00166	N	0.000000	T	0.29190	0.0726	L	0.31476	0.935	0.09310	N	1	B;B;B;B	0.32365	0.367;0.367;0.317;0.056	B;B;B;B	0.37550	0.186;0.253;0.164;0.077	T	0.13629	-1.0502	10	0.14252	T	0.57	.	6.9184	0.24374	0.0:0.5566:0.0:0.4434	.	185;74;102;329	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	T	329;102;213;74;185;102;307	ENSP00000289575:P329T;ENSP00000341286:P102T;ENSP00000434112:P213T;ENSP00000432650:P74T;ENSP00000436324:P185T;ENSP00000389653:P102T;ENSP00000388912:P307T	ENSP00000289575:P329T	P	+	1	0	SLCO2B1	74576841	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.042000	0.12063	-0.206000	0.10203	0.561000	0.74099	CCC		0.557	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		59	77	1	0	4.13886e-29	0.00361	6.48762e-29	59	77				
TENM4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:78468036C>A	ENST00000278550.7	-	19	3032	c.2570G>T	c.(2569-2571)tGc>tTc	p.C857F	RP11-673F18.1_ENST00000526741.1_RNA	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	857					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.C857F(4)									CTGGAGGCAGCAGTCAGGGTC	0.537																																							uc001ozl.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(2)	4						c.(2569-2571)TGC>TTC		odz, odd Oz/ten-m homolog 4							54.0	60.0	58.0					11																	78468036		2184	4278	6462	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78468036C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2570G>T	11.37:g.78468036C>A	ENSP00000278550:p.Cys857Phe						p.C857F	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			19	3033	-			857			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2570G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663496	0.88251	.	.	ENSG00000149256	ENST00000278550	T	0.14391	2.51	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	M	0.91196	3.185	0.80722	D	1	P	0.52842	0.956	P	0.44732	0.459	T	0.48127	-0.9062	9	.	.	.	.	19.0716	0.93140	0.0:1.0:0.0:0.0	.	857	Q6N022	TEN4_HUMAN	F	857	ENSP00000278550:C857F	.	C	-	2	0	ODZ4	78145684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.735000	0.93741	0.563000	0.77884	TGC		0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			20	23	1	0	4.72057e-08	0.003954	5.52353e-08	20	23				
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:85459316T>A	ENST00000528231.1	-	2	529	c.252A>T	c.(250-252)gcA>gcT	p.A84A	SYTL2_ENST00000524452.1_Splice_Site_p.A84A|SYTL2_ENST00000316356.4_Splice_Site_p.A84A|SYTL2_ENST00000389960.4_Splice_Site_p.A84A|SYTL2_ENST00000527523.1_Splice_Site_p.A36A	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	84					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.A84A(2)		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)		TCAACTCACCTGCTATCTGGG	0.468																																							uc010rth.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(250-252)GCA>GCT		synaptotagmin-like 2 isoform g							191.0	175.0	181.0					11																	85459316		2203	4299	6502	SO:0001630	splice_region_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.chr11:85459316T>A	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.253+1A>T	11.37:g.85459316T>A						SYTL2_uc010rtg.1_Silent_p.A84A|SYTL2_uc010rti.1_Silent_p.A84A|SYTL2_uc010rtj.1_Silent_p.A36A|SYTL2_uc001pbf.3_Silent_p.A84A	p.A84A	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	2	528	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	84					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.252A>T	CCDS53688.1																																																																																				0.468	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	Silent	120	233	0	0	0	0.00361	0	120	233				
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:92531039A>T	ENST00000298047.6	+	9	4877	c.4860A>T	c.(4858-4860)ctA>ctT	p.L1620L	FAT3_ENST00000409404.2_Silent_p.L1620L|FAT3_ENST00000525166.1_Silent_p.L1470L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1620	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1620L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGTCCTAGGCATCATCA	0.428										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|pancreas(1)	5						c.(4858-4860)CTA>CTT		FAT tumor suppressor homolog 3							119.0	113.0	115.0					11																	92531039		1985	4163	6148	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531039A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4860A>T	11.37:g.92531039A>T		TCGA Ovarian(4;0.039)					p.L1620L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	4877	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1620			Cadherin 15.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.4860A>T																																																																																					0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		136	253	0	0	0	0.00361	0	136	253				
HEPHL1	341208	broad.mit.edu	37	11	93821930	93821930	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:93821930G>C	ENST00000315765.9	+	12	2098	c.2090G>C	c.(2089-2091)aGg>aCg	p.R697T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	697	Plastocyanin-like 4.			R -> G (in Ref. 3; CAE46009). {ECO:0000305}.	copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.R701T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGTATTTTTAGGGTGTTTTGT	0.488																																							uc001pep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2089-2091)AGG>ACG		hephaestin-like 1 precursor							32.0	33.0	32.0					11																	93821930		1911	4121	6032	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93821930G>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2090G>C	11.37:g.93821930G>C	ENSP00000313699:p.Arg697Thr					uc001pen.1_Intron	p.R697T	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			12	2247	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	697	R -> G (in Ref. 3; CAE46009).		Plastocyanin-like 4.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2090G>C	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140655	0.21205	.	.	ENSG00000181333	ENST00000315765	D	0.99745	-6.61	5.33	-1.9	0.07665	Cupredoxin (2);	0.168326	0.52532	D	0.000061	D	0.97353	0.9134	L	0.27053	0.805	0.24154	N	0.99569	B	0.13594	0.008	B	0.19148	0.024	D	0.95860	0.8882	10	0.13108	T	0.6	.	6.5606	0.22483	0.6458:0.0:0.2316:0.1226	.	697	Q6MZM0	HPHL1_HUMAN	T	697	ENSP00000313699:R697T	ENSP00000313699:R697T	R	+	2	0	HEPHL1	93461578	1.000000	0.71417	0.890000	0.34922	0.493000	0.33554	3.953000	0.56699	-0.476000	0.06842	-1.644000	0.00765	AGG		0.488	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		4	82	0	0	0	0.001168	0	4	82				
MAML2	84441	broad.mit.edu	37	11	95713012	95713012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:95713012C>T	ENST00000524717.1	-	5	3855	c.2571G>A	c.(2569-2571)atG>atA	p.M857I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	857					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.M857I(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATAATGATGGCATTCTTGTCC	0.413			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																		uc001pfw.1		NA		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Missense(1)	p.M857V(1)	lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2569-2571)ATG>ATA		mastermind-like 2							169.0	157.0	161.0					11																	95713012		1913	4119	6032	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95713012C>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2571G>A	11.37:g.95713012C>T	ENSP00000434552:p.Met857Ile						p.M857I	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			5	3856	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	857					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2571G>A	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	1.219	-0.627571	0.03610	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.41065	1.01;1.01	5.08	4.17	0.49024	.	0.137304	0.49305	D	0.000146	T	0.36331	0.0963	L	0.53249	1.67	0.35232	D	0.777028	B	0.30824	0.296	B	0.26310	0.068	T	0.45220	-0.9276	10	0.22706	T	0.39	-2.783	13.7438	0.62863	0.0:0.925:0.0:0.075	.	857	Q8IZL2	MAML2_HUMAN	I	857	ENSP00000434552:M857I;ENSP00000412394:M857I	ENSP00000412394:M857I	M	-	3	0	MAML2	95352660	1.000000	0.71417	0.109000	0.21407	0.253000	0.25986	2.904000	0.48719	1.276000	0.44395	0.650000	0.86243	ATG		0.413	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			14	212	0	0	0	0.004007	0	14	212				
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:101786030G>T	ENST00000263468.8	+	1	285	c.15G>T	c.(13-15)agG>agT	p.R5S	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	5								p.R5S(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGGCGGGGAGGCCCGGAACCC	0.701																																							uc001pgm.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(13-15)AGG>AGT		hypothetical protein LOC57562							34.0	40.0	38.0					11																	101786030		2187	4277	6464	SO:0001583	missense	57562						protein binding	g.chr11:101786030G>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.15G>T	11.37:g.101786030G>T	ENSP00000263468:p.Arg5Ser					ANGPTL5_uc001pgl.2_Intron	p.R5S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	1	285	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	5					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.15G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613119	0.87258	.	.	ENSG00000110318	ENST00000263468	T	0.12255	2.7	4.53	4.53	0.55603	.	0.000000	0.39274	N	0.001411	T	0.24198	0.0586	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02098	-1.1214	10	0.87932	D	0	-1.5709	13.1239	0.59342	0.0:0.0:1.0:0.0	.	5	Q9P2H0	K1377_HUMAN	S	5	ENSP00000263468:R5S	ENSP00000263468:R5S	R	+	3	2	KIAA1377	101291240	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	2.810000	0.47979	2.231000	0.72958	0.561000	0.74099	AGG		0.701	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		13	11	1	0	7.07596e-05	0.006122	7.798e-05	13	11				
MMP10	4319	broad.mit.edu	37	11	102643716	102643716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:102643716C>A	ENST00000279441.4	-	8	1124	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	363					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R363I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CTCATTTCCTCTGATGGCCCA	0.368																																							uc001phg.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1087-1089)AGA>ATA		matrix metalloproteinase 10 preproprotein							108.0	108.0	108.0					11																	102643716		2203	4298	6501	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102643716C>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1088G>T	11.37:g.102643716C>A	ENSP00000279441:p.Arg363Ile						p.R363I	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	8	1110	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	363			Hemopexin-like 2.		B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.1088G>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961640	0.53400	.	.	ENSG00000166670	ENST00000279441	T	0.02631	4.22	4.46	3.54	0.40534	Hemopexin/matrixin (2);	0.000000	0.49916	D	0.000132	T	0.14960	0.0361	M	0.84082	2.675	0.42641	D	0.993418	D	0.76494	0.999	D	0.65573	0.936	T	0.02313	-1.1178	10	0.66056	D	0.02	.	14.8128	0.70008	0.0:0.855:0.145:0.0	.	363	P09238	MMP10_HUMAN	I	363	ENSP00000279441:R363I	ENSP00000279441:R363I	R	-	2	0	MMP10	102148926	0.001000	0.12720	0.978000	0.43139	0.395000	0.30598	-0.106000	0.10890	1.207000	0.43291	0.650000	0.86243	AGA		0.368	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			25	276	1	0	3.00307e-07	0.008361	3.4725e-07	25	276				
GRIA4	2893	broad.mit.edu	37	11	105804494	105804494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:105804494C>A	ENST00000530497.1	+	13	2093	c.2093C>A	c.(2092-2094)tCa>tAa	p.S698*	GRIA4_ENST00000282499.5_Nonsense_Mutation_p.S698*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.S698*|AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000393127.2_Nonsense_Mutation_p.S698*			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	698					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S698*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TACATGCGATCAGCAGAGCCA	0.408																																							uc001pix.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2092-2094)TCA>TAA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						59.0	53.0	55.0					11																	105804494		2202	4299	6501	SO:0001587	stop_gained	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105804494C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2093C>A	11.37:g.105804494C>A	ENSP00000435775:p.Ser698*					GRIA4_uc001piw.2_Nonsense_Mutation_p.S698*|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	p.S698*	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	14	2539	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	698			Extracellular (Potential).		Q86XE8	Nonsense_Mutation	SNP	ENST00000530497.1	37	c.2093C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	43	10.038559	0.99323	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	.	.	.	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8999	0.92439	0.0:1.0:0.0:0.0	.	.	.	.	X	698;698;698;698;3	.	ENSP00000282499:S698X	S	+	2	0	GRIA4	105309704	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	3.122000	0.50446	2.479000	0.83701	0.591000	0.81541	TCA		0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			7	46	1	0	5.18039e-06	0.00308	5.86459e-06	7	46				
NNMT	4837	broad.mit.edu	37	11	114182861	114182861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114182861C>T	ENST00000535401.1	+	5	721	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.P153S|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	153					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGGGCCGTCCCCTTACCCCC	0.622																																							uc001por.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)CCC>TCC		nicotinamide N-methyltransferase	Niacin(DB00627)						72.0	72.0	72.0					11																	114182861		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114182861C>T	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.457C>T	11.37:g.114182861C>T	ENSP00000441434:p.Pro153Ser					NNMT_uc001pos.1_Missense_Mutation_p.P153S	p.P153S	NM_006169	NP_006160	P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	5	721	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	153						Missense_Mutation	SNP	ENST00000535401.1	37	c.457C>T	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	C	0.637	-0.814943	0.02776	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.03242	4.0;4.0	5.11	-10.2	0.00374	.	1.529560	0.03780	N	0.261191	T	0.01156	0.0038	N	0.00890	-1.11	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.40327	-0.9569	10	0.08837	T	0.75	-1.123	11.9318	0.52851	0.0:0.0859:0.3276:0.5865	.	153	P40261	NNMT_HUMAN	S	153	ENSP00000441434:P153S;ENSP00000299964:P153S	ENSP00000299964:P153S	P	+	1	0	NNMT	113688071	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.628000	0.00873	-3.190000	0.00220	-2.865000	0.00100	CCC		0.622	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		6	115	0	0	0	0.001984	0	6	115				
NNMT	4837	broad.mit.edu	37	11	114183054	114183054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114183054G>T	ENST00000535401.1	+	5	914	c.650G>T	c.(649-651)gGc>gTc	p.G217V	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.G217V|NNMT_ENST00000541754.1_Missense_Mutation_p.G22V|NNMT_ENST00000545255.1_Missense_Mutation_p.G22V|NNMT_ENST00000542647.1_Missense_Mutation_p.G22V			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	217					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)	p.G217V(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTCCCCCTGGGCCGGGAGGCA	0.547																																							uc001por.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)GGC>GTC		nicotinamide N-methyltransferase	Niacin(DB00627)						60.0	64.0	63.0					11																	114183054		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114183054G>T	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.650G>T	11.37:g.114183054G>T	ENSP00000441434:p.Gly217Val					NNMT_uc001pos.1_Missense_Mutation_p.G217V	p.G217V	NM_006169	NP_006160	P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	5	914	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	217						Missense_Mutation	SNP	ENST00000535401.1	37	c.650G>T	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425871	0.25726	.	.	ENSG00000166741	ENST00000535401;ENST00000299964;ENST00000541754;ENST00000542647;ENST00000545255	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	4.93	-1.86	0.07760	.	0.693374	0.13458	N	0.386416	T	0.11281	0.0275	L	0.43152	1.355	0.22693	N	0.998845	P	0.52170	0.951	P	0.52646	0.705	T	0.16188	-1.0411	10	0.45353	T	0.12	-1.0203	1.5076	0.02489	0.4395:0.1411:0.275:0.1443	.	217	P40261	NNMT_HUMAN	V	217;217;22;22;22	ENSP00000441434:G217V;ENSP00000299964:G217V;ENSP00000445680:G22V;ENSP00000445994:G22V;ENSP00000445248:G22V	ENSP00000299964:G217V	G	+	2	0	NNMT	113688264	0.003000	0.15002	0.161000	0.22692	0.168000	0.22595	-0.113000	0.10774	0.129000	0.18514	-0.253000	0.11424	GGC		0.547	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		8	72	1	0	0.000673444	0.008291	0.000722264	8	72				
RBM7	10179	broad.mit.edu	37	11	114276519	114276519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114276519G>T	ENST00000540163.1	+	4	1078	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	RBM7_ENST00000544582.1_Missense_Mutation_p.V146L|RBM7_ENST00000375490.5_Missense_Mutation_p.V147L|RBM7_ENST00000545678.1_Missense_Mutation_p.V26L|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.Q143H|RBM7_ENST00000541475.1_Missense_Mutation_p.V147L			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	146					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V146L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGACAAGCAGTGGTAGGTTG	0.323																																							uc001pov.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(436-438)GTG>TTG		RNA binding motif protein 7							83.0	80.0	81.0					11																	114276519		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114276519G>T	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.436G>T	11.37:g.114276519G>T	ENSP00000439918:p.Val146Leu					RBM7_uc001pow.2_Missense_Mutation_p.V147L|RBM7_uc001pox.2_Missense_Mutation_p.V26L	p.V146L	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	4	446	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	146					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.436G>T	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955304	0.73902	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000541475;ENST00000544582;ENST00000545678	T;T;T;T	0.28454	1.61;2.63;2.43;2.3	5.69	4.78	0.61160	.	0.270757	0.40469	N	0.001085	T	0.26048	0.0635	L	0.53249	1.67	0.32987	D	0.524388	P;P	0.41450	0.584;0.75	B;B	0.36922	0.182;0.236	T	0.29181	-1.0020	10	0.10377	T	0.69	-9.2621	13.1659	0.59571	0.077:0.0:0.923:0.0	.	146;146	Q6IRX3;Q9Y580	.;RBM7_HUMAN	L	146;147;147;146;26	ENSP00000439918:V146L;ENSP00000364639:V147L;ENSP00000440949:V147L;ENSP00000440923:V146L	ENSP00000364639:V147L	V	+	1	0	RBM7	113781729	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.663000	0.46774	1.407000	0.46875	0.655000	0.94253	GTG		0.323	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		71	115	1	0	2.15109e-50	0.00361	3.75918e-50	71	115				
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:117387251C>A	ENST00000321322.6	-	8	1895	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E362*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E632*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACAGGTACTCCCCCTCATCC	0.612																																							uc001prh.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1894-1896)GAG>TAG		Down syndrome cell adhesion molecule like 1							123.0	94.0	104.0					11																	117387251		2201	4296	6497	SO:0001587	stop_gained	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117387251C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1894G>T	11.37:g.117387251C>A	ENSP00000315465:p.Glu632*						p.E632*	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	8	1896	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	572			Extracellular (Potential).|Ig-like C2-type 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.1894G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876328	0.97055	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	16.8526	0.85998	0.0:1.0:0.0:0.0	.	.	.	.	X	362;632;339	.	ENSP00000315465:E632X	E	-	1	0	DSCAML1	116892461	0.998000	0.40836	0.974000	0.42286	0.989000	0.77384	3.886000	0.56190	2.273000	0.75805	0.462000	0.41574	GAG		0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		12	19	1	0	4.3838e-07	0.001855	5.05823e-07	12	19				
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:123810656G>T	ENST00000307033.2	+	1	407	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K111N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGGCATCAAGATCTTCCTGC	0.498																																							uc001pzk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(331-333)AAG>AAT		olfactory receptor, family 4, subfamily D,							134.0	112.0	120.0					11																	123810656		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810656G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.333G>T	11.37:g.123810656G>T	ENSP00000305970:p.Lys111Asn						p.K111N	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	333	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	111			Helical; Name=3; (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.333G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466017	0.43839	.	.	ENSG00000171014	ENST00000307033	T	0.00392	7.58	5.5	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.260464	0.27048	N	0.021190	T	0.00109	0.0003	N	0.02247	-0.625	0.29056	N	0.884226	B	0.33841	0.428	B	0.29942	0.109	T	0.43410	-0.9393	10	0.87932	D	0	-11.3773	3.8369	0.08897	0.3395:0.0:0.6605:0.0	.	111	Q8NGN0	OR4D5_HUMAN	N	111	ENSP00000305970:K111N	ENSP00000305970:K111N	K	+	3	2	OR4D5	123315866	0.014000	0.17966	1.000000	0.80357	0.986000	0.74619	1.180000	0.32005	2.575000	0.86900	0.655000	0.94253	AAG		0.498	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		155	239	1	0	4.71032e-111	0.00361	9.05186e-111	155	239				
OR10S1	219873	broad.mit.edu	37	11	123848123	123848123	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:123848123G>T	ENST00000531945.1	-	1	365	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGACCTTGGGCACTGTCA	0.547																																							uc001pzm.1		NA																	1	Substitution - coding silent(1)	p.P92L(1)	lung(1)	ovary(1)|skin(1)	2						c.(274-276)CCC>CCA		olfactory receptor, family 10, subfamily S,							86.0	68.0	74.0					11																	123848123		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848123G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.276C>A	11.37:g.123848123G>T							p.P92P	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	276	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	92			Extracellular (Potential).		B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.276C>A	CCDS31701.1																																																																																				0.547	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		16	275	1	0	3.62473e-10	0.001882	4.41343e-10	16	275				
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:124007382G>C	ENST00000456829.2	+	14	1876		c.e14+1		VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A									p.?(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGATGTCAAGTGAGAATTCA	0.488																																							uc001pzu.2		NA																	2	Unknown(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.e14+1		BCSC-1 isoform 1							155.0	130.0	139.0					11																	124007382		2201	4299	6500	SO:0001630	splice_region_variant	4013							g.chr11:124007382G>C	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1625+1G>C	11.37:g.124007382G>C						VWA5A_uc001pzt.2_Splice_Site_p.N542_splice	p.N542_splice	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			14	1834	+								Q6UN19|Q6UN20|Q9BVF8	Splice_Site	SNP	ENST00000456829.2	37	c.1625_splice	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769091	0.69992	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8312	0.85945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA5A	123512592	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.024000	0.64090	2.559000	0.86315	0.650000	0.86243	.		0.488	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	Intron	30	306	0	0	0	0.00623	0	30	306				
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:124413479G>T	ENST00000306842.2	-	1	96	c.72C>A	c.(70-72)atC>atA	p.I24I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I24I(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAGAGGGGGATCCGCAGTC	0.547																																							uc010sam.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(70-72)ATC>ATA		olfactory receptor, family 8, subfamily B,							53.0	57.0	55.0					11																	124413479		2201	4299	6500	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413479G>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.72C>A	11.37:g.124413479G>T							p.I24I	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	72	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	24			Extracellular (Potential).		B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.72C>A	CCDS31711.1																																																																																				0.547	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			124	173	1	0	2.42353e-96	0.00361	4.64081e-96	124	173				
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:125299921C>A	ENST00000298282.9	+	12	1347	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	PKNOX2_ENST00000542175.1_Missense_Mutation_p.A295D|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.A359D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGATCCTGCCCCCAAAGCC	0.607																																							uc001qbu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1075-1077)GCC>GAC		PBX/knotted 1 homeobox 2							108.0	119.0	116.0					11																	125299921		2024	4176	6200	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125299921C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1076C>A	11.37:g.125299921C>A	ENSP00000298282:p.Ala359Asp					PKNOX2_uc010saz.1_Missense_Mutation_p.A330D|PKNOX2_uc010sba.1_Missense_Mutation_p.A330D|PKNOX2_uc010sbb.1_Missense_Mutation_p.A295D|PKNOX2_uc001qbv.2_Missense_Mutation_p.A124D	p.A359D	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1390	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	359					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1076C>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483718	0.84854	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.89	4.73	4.73	0.59995	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.87341	0.6153	L	0.50333	1.59	0.80722	D	1	D;P;B	0.58620	0.983;0.745;0.079	P;B;B	0.56434	0.798;0.207;0.029	D	0.83996	0.0340	10	0.15499	T	0.54	-14.6877	18.0791	0.89437	0.0:1.0:0.0:0.0	.	295;330;359	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	D	330;330;359;295	ENSP00000434732:A330D;ENSP00000433971:A330D;ENSP00000298282:A359D;ENSP00000441470:A295D	ENSP00000298282:A359D	A	+	2	0	PKNOX2	124805131	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	7.772000	0.85439	2.357000	0.79964	0.561000	0.74099	GCC		0.607	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			25	219	1	0	3.73148e-12	0.007291	4.75796e-12	25	219				
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:126306857G>A	ENST00000525144.2	-	12	1650	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KIRREL3_ENST00000529097.2_Silent_p.R467R|KIRREL3_ENST00000525704.2_Silent_p.R467R|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	467	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R467R(4)|p.R426R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCACCGTATAGCGCCCCGATG	0.642																																							uc001qea.2		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(3)	3						c.(1399-1401)CGC>CGT		kin of IRRE like 3 isoform 1							76.0	86.0	83.0					11																	126306857		2182	4284	6466	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126306857G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1401C>T	11.37:g.126306857G>A						KIRREL3_uc001qeb.2_Silent_p.R467R|KIRREL3_uc001qec.1_Silent_p.R467R|ST3GAL4_uc001qdx.1_Intron	p.R467R	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	12	1762	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	467			Extracellular (Potential).|Ig-like C2-type 5.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1401C>T	CCDS53723.1																																																																																				0.642	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		6	17	0	0	0	0.001984	0	6	17				
ADAMTS15	170689	broad.mit.edu	37	11	130340820	130340820	+	Missense_Mutation	SNP	G	G	A	rs147190472		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:130340820G>A	ENST00000299164.2	+	6	1726	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	576	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G576R(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)		CCTAGCCTCCGGAAAGAGCTT	0.602																																							uc010scd.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1726-1728)GGA>AGA		a disintegrin-like and metalloprotease		G	ARG/GLY	1,4397		0,1,2198	108.0	116.0	113.0		1726	5.8	1.0	11	dbSNP_134	113	0,8592		0,0,4296	no	missense	ADAMTS15	NM_139055.2	125	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	576/951	130340820	1,12989	2199	4296	6495	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130340820G>A	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.1726G>A	11.37:g.130340820G>A	ENSP00000299164:p.Gly576Arg						p.G576R	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	6	1726	+	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)	576			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1726G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004925	0.74932	2.27E-4	0.0	ENSG00000166106	ENST00000299164	T	0.60797	0.16	5.78	5.78	0.91487	.	.	.	.	.	T	0.73590	0.3606	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.72440	-0.4293	9	0.49607	T	0.09	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	576	Q8TE58	ATS15_HUMAN	R	576	ENSP00000299164:G576R	ENSP00000299164:G576R	G	+	1	0	ADAMTS15	129846030	1.000000	0.71417	0.993000	0.49108	0.274000	0.26718	8.031000	0.88826	2.717000	0.92951	0.655000	0.94253	GGA		0.602	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		6	104	0	0	0	0.001168	0	6	104				
GLB1L2	89944	broad.mit.edu	37	11	134239735	134239735	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:134239735C>T	ENST00000535456.2	+	11	1252	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.T355M|GLB1L2_ENST00000389881.3_Missense_Mutation_p.T355M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	355					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.T355M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCGATTACACGGCCAAGTAC	0.552																																							uc001qhp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1063-1065)ACG>ATG		galactosidase, beta 1-like 2 precursor							182.0	161.0	168.0					11																	134239735		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134239735C>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1064C>T	11.37:g.134239735C>T	ENSP00000444628:p.Thr355Met					GLB1L2_uc009zdg.1_RNA	p.T355M	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	11	1252	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	355					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1064C>T	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266187	0.80358	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.98249	-4.82;-4.82;-4.82	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98621	1.0667	10	0.87932	D	0	-15.5903	18.5196	0.90947	0.0:1.0:0.0:0.0	.	355	Q8IW92	GLBL2_HUMAN	M	355	ENSP00000344659:T355M;ENSP00000444628:T355M;ENSP00000374531:T355M	ENSP00000344659:T355M	T	+	2	0	GLB1L2	133744945	1.000000	0.71417	0.965000	0.40720	0.522000	0.34438	7.038000	0.76537	2.668000	0.90789	0.655000	0.94253	ACG		0.552	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		4	149	0	0	0	0.009096	0	4	149				
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:4722693A>G	ENST00000540757.2	+	13	1497	c.1337A>G	c.(1336-1338)aAa>aGa	p.K446R	DYRK4_ENST00000010132.5_Missense_Mutation_p.K446R|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000545342.1_Missense_Mutation_p.K83R|DYRK4_ENST00000543431.1_Missense_Mutation_p.K445R	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	446						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.K847R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GAGATCACCAAAGAGACTACA	0.438																																							uc001qmx.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)	3						c.(1336-1338)AAA>AGA		dual-specificity tyrosine-(Y)-phosphorylation							67.0	62.0	64.0					12																	4722693		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722693A>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1337A>G	12.37:g.4722693A>G	ENSP00000441755:p.Lys446Arg					DYRK4_uc001qmy.1_Missense_Mutation_p.K445R|DYRK4_uc001qmz.1_Missense_Mutation_p.K159R|DYRK4_uc001qna.1_Missense_Mutation_p.K82R|DYRK4_uc010ser.1_Missense_Mutation_p.K83R	p.K446R	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1497	+			446					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1337A>G	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475529	0.26511	.	.	ENSG00000010219	ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342	T;T;T;T	0.64803	-0.12;-0.12;-0.11;0.73	5.88	0.392	0.16288	.	0.878043	0.10017	N	0.726386	T	0.42539	0.1207	L	0.34521	1.04	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.10450	0.005;0.003;0.001	T	0.22730	-1.0208	10	0.15952	T	0.53	.	2.8688	0.05610	0.5142:0.2744:0.0809:0.1306	.	159;445;446	B4E1A4;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	R	446;446;445;83	ENSP00000441755:K446R;ENSP00000010132:K446R;ENSP00000439697:K445R;ENSP00000446005:K83R	ENSP00000010132:K446R	K	+	2	0	DYRK4	4592954	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.662000	0.05305	0.136000	0.18733	-0.256000	0.11100	AAA		0.438	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			21	131	0	0	0	0.00333	0	21	131				
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:6135206C>A	ENST00000261405.5	-	23	3228	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	992	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.V992L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCACACACTTTCTCCTTG	0.557																																							uc001qnn.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(2974-2976)GTG>TTG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						77.0	78.0	78.0					12																	6135206		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6135206C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2974G>T	12.37:g.6135206C>A	ENSP00000261405:p.Val992Leu					VWF_uc010set.1_Intron	p.V992L	NM_000552	NP_000543	P04275	VWF_HUMAN			23	3224	-			992			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2974G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030005	0.75504	.	.	ENSG00000110799	ENST00000261405	T	0.60424	0.19	4.84	4.84	0.62591	von Willebrand factor, type D domain (3);	0.000000	0.38381	N	0.001714	T	0.67543	0.2904	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70777	-0.4780	10	0.66056	D	0.02	.	17.1143	0.86684	0.0:1.0:0.0:0.0	.	992	P04275	VWF_HUMAN	L	992	ENSP00000261405:V992L	ENSP00000261405:V992L	V	-	1	0	VWF	6005467	1.000000	0.71417	0.963000	0.40424	0.498000	0.33706	7.302000	0.78861	2.504000	0.84457	0.561000	0.74099	GTG		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		34	196	1	0	3.61848e-18	0.007835	5.10177e-18	34	196				
ACRBP	84519	broad.mit.edu	37	12	6756063	6756063	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:6756063G>T	ENST00000229243.2	-	2	252	c.159C>A	c.(157-159)acC>acA	p.T53T	ACRBP_ENST00000536350.1_Silent_p.T53T|ACRBP_ENST00000414226.2_Silent_p.T53T	NM_032489.2	NP_115878.2			acrosin binding protein									p.T53T(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGCCTTCCAGGTTGGAGTCA	0.607																																							uc001qpu.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(157-159)ACC>ACA		proacrosin binding protein sp32 precursor							103.0	96.0	98.0					12																	6756063		2203	4300	6503	SO:0001819	synonymous_variant	84519					acrosomal vesicle|extracellular region		g.chr12:6756063G>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.159C>A	12.37:g.6756063G>T						ACRBP_uc010sfg.1_Silent_p.T53T	p.T53T	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN			2	207	-			53						Silent	SNP	ENST00000229243.2	37	c.159C>A	CCDS8554.1																																																																																				0.607	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		10	29	1	0	2.68362e-12	0.001368	3.4259e-12	10	29				
LRRC23	10233	broad.mit.edu	37	12	7015720	7015720	+	Silent	SNP	C	C	T	rs116689978	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:7015720C>T	ENST00000007969.8	+	4	604	c.384C>T	c.(382-384)gcC>gcT	p.A128A	LRRC23_ENST00000433346.1_Silent_p.A128A|LRRC23_ENST00000443597.2_Silent_p.A128A|LRRC23_ENST00000323702.5_Silent_p.A128A|LRRC23_ENST00000429740.1_Silent_p.A128A|LRRC23_ENST00000436789.1_Silent_p.A128A	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	128										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TGCGAAGTGCCCAGATGAATG	0.493													C|||	6	0.00119808	0.0	0.0	5008	,	,		-128	0.0		0.002	False		,,,				2504	0.0041						uc001qrt.3		NA																	0				ovary(1)	1						c.(382-384)GCC>GCT		leucine rich repeat containing 23 isoform a		C	,,	1,4405	2.1+/-5.4	0,1,2202	280.0	270.0	274.0		384,384,384	3.0	0.5	12	dbSNP_132	274	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC23	NM_001135217.1,NM_006992.3,NM_201650.2	,,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,,	128/344,128/313,128/344	7015720	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	10233							g.chr12:7015720C>T	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.384C>T	12.37:g.7015720C>T						LRRC23_uc001qrn.1_Silent_p.A128A|LRRC23_uc009zfg.2_RNA|LRRC23_uc001qrp.2_Silent_p.A128A|LRRC23_uc001qrq.2_Silent_p.A128A|LRRC23_uc001qrr.2_Silent_p.A77A|LRRC23_uc001qrs.2_Silent_p.A77A|LRRC23_uc009zfh.2_Silent_p.A128A	p.A128A	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN			4	776	+			128			LRR 2.		A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	ENST00000007969.8	37	c.384C>T	CCDS8569.1																																																																																				0.493	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		7	421	0	0	0	0.00308	0	7	421				
CD163	9332	broad.mit.edu	37	12	7636091	7636092	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:7636091_7636092CC>AA	ENST00000359156.4	-	12	3161_3162	c.2959_2960GG>TT	c.(2959-2961)GGg>TTg	p.G987L	CD163_ENST00000396620.3_Missense_Mutation_p.G1020L|CD163_ENST00000541972.1_Missense_Mutation_p.G975L|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.G987L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CGGTCCAGTCCCCTGACCAAAC	0.52																																							uc001qsz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(2959-2961)GGG>TTG		CD163 antigen isoform a																																				SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636091_7636092CC>AA	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2959_2960delinsAA	12.37:g.7636091_7636092delinsAA	ENSP00000352071:p.Gly987Leu					CD163_uc001qta.3_Missense_Mutation_p.G987L|CD163_uc009zfw.2_Missense_Mutation_p.G1020L	p.G987L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	3087_3088	-			987			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	DNP	ENST00000359156.4	37	c.2959_2960GG>TT	CCDS8578.1																																																																																				0.520	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		49	147	0	0	0	0.004672	0	49	147				
PZP	5858	broad.mit.edu	37	12	9317736	9317736	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:9317736C>T	ENST00000261336.2	-	19	2514	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Splice_Site_p.R698Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	829					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCCTTACCCGGATGCATTT	0.463																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2485-2487)CGG>CAG		pregnancy-zone protein precursor							115.0	110.0	112.0					12																	9317736		2203	4300	6503	SO:0001630	splice_region_variant	5858							g.chr12:9317736C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2487+1G>A	12.37:g.9317736C>T						PZP_uc009zgl.2_Missense_Mutation_p.R698Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.R161Q	p.R829Q	NM_002864	NP_002855					19	2515	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2486G>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822240	0.50739	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.23754	1.89;1.89	3.7	-1.91	0.07641	Alpha-2-macroglobulin (1);	0.106553	0.37955	N	0.001873	T	0.19167	0.0460	N	0.22421	0.69	0.23186	N	0.998151	P;P;P	0.49307	0.922;0.733;0.922	P;B;P	0.49853	0.624;0.129;0.624	T	0.31280	-0.9949	10	0.22109	T	0.4	.	10.8197	0.46597	0.0:0.3223:0.0:0.6777	.	829;698;829	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	Q	829;698	ENSP00000261336:R829Q;ENSP00000371427:R698Q	ENSP00000261336:R829Q	R	-	2	0	PZP	9209003	0.000000	0.05858	0.842000	0.33263	0.944000	0.59088	-0.988000	0.03739	-0.568000	0.06038	0.467000	0.42956	CGG		0.463	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Missense_Mutation	5	356	0	0	0	0.00308	0	5	356				
TAS2R46	259292	broad.mit.edu	37	12	11214101	11214101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:11214101C>T	ENST00000533467.1	-	1	792	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	265					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.E265K(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAATAGCTTCGCAGAACATG	0.418																																							uc001qzp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(793-795)GAA>AAA		taste receptor, type 2, member 46							194.0	203.0	200.0					12																	11214101		2194	4296	6490	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214101C>T	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.793G>A	12.37:g.11214101C>T	ENSP00000436450:p.Glu265Lys					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.E265K	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	793	-			265			Helical; Name=7; (Potential).		P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.793G>A	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	c	4.573	0.106470	0.08780	.	.	ENSG00000226761	ENST00000533467	T	0.00832	5.64	2.54	-3.45	0.04781	.	.	.	.	.	T	0.00580	0.0019	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43893	-0.9363	9	0.27082	T	0.32	.	6.5896	0.22639	0.0:0.1528:0.2167:0.6305	.	265	P59540	T2R46_HUMAN	K	265	ENSP00000436450:E265K	ENSP00000436450:E265K	E	-	1	0	TAS2R46	11105368	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.201000	0.01236	-0.399000	0.07668	-1.441000	0.01070	GAA		0.418	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		17	663	0	0	0	0.008871	0	17	663				
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:22089557C>G	ENST00000261201.4	-	1	51	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	ABCC9_ENST00000261200.4_Missense_Mutation_p.G18R|ABCC9_ENST00000345162.2_Missense_Mutation_p.G18R|ABCC9_ENST00000538350.1_Missense_Mutation_p.G18R|ABCC9_ENST00000326684.4_Missense_Mutation_p.G18R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	18					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.G18R(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGTAGTACACCATCGTTGATA	0.338																																							uc001rfi.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(2)	6						c.(52-54)GGT>CGT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						113.0	113.0	113.0					12																	22089557		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22089557C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.52G>C	12.37:g.22089557C>G	ENSP00000261201:p.Gly18Arg					ABCC9_uc001rfh.2_Missense_Mutation_p.G18R|ABCC9_uc001rfj.1_Missense_Mutation_p.G18R|ABCC9_uc001rfk.2_Missense_Mutation_p.G18R|ABCC9_uc001rfl.1_Missense_Mutation_p.G18R	p.G18R	NM_005691	NP_005682	O60706	ABCC9_HUMAN			1	72	-			18			Extracellular (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.52G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545189	0.45280	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162;ENST00000326684;ENST00000538350	D;D;D;D;D	0.96745	-3.05;-3.06;-3.06;-4.11;-4.11	5.32	5.32	0.75619	.	0.142946	0.64402	D	0.000006	D	0.97804	0.9279	M	0.72118	2.19	0.53005	D	0.999964	D;D;D;P	0.71674	0.998;0.995;0.983;0.859	D;D;P;B	0.72625	0.978;0.962;0.883;0.316	D	0.97481	1.0047	10	0.45353	T	0.12	-18.6749	19.196	0.93689	0.0:1.0:0.0:0.0	.	18;18;18;18	G3V1N6;Q8N4N7;O60706;O60706-2	.;.;ABCC9_HUMAN;.	R	18	ENSP00000261200:G18R;ENSP00000261201:G18R;ENSP00000261202:G18R;ENSP00000317518:G18R;ENSP00000442604:G18R	ENSP00000261200:G18R	G	-	1	0	ABCC9	21980824	1.000000	0.71417	0.236000	0.24074	0.004000	0.04260	4.775000	0.62346	2.766000	0.95052	0.643000	0.83706	GGT		0.338	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		23	120	0	0	0	0.00333	0	23	120				
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:23999036C>A	ENST00000451604.2	-	3	463	c.362G>T	c.(361-363)gGc>gTc	p.G121V	SOX5_ENST00000441133.2_Missense_Mutation_p.G86V|SOX5_ENST00000541847.1_Missense_Mutation_p.G111V|SOX5_ENST00000537393.1_Missense_Mutation_p.G86V|SOX5_ENST00000309359.1_Missense_Mutation_p.G108V|SOX5_ENST00000541536.1_Missense_Mutation_p.G108V|SOX5_ENST00000545921.1_Missense_Mutation_p.G111V|SOX5_ENST00000381381.2_Missense_Mutation_p.G108V|SOX5_ENST00000546136.1_Missense_Mutation_p.G108V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGACTCGCCACTCTGTCG	0.498																																							uc001rfw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)	6						c.(361-363)GGC>GTC		SRY (sex determining region Y)-box 5 isoform a							134.0	120.0	125.0					12																	23999036		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23999036C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.362G>T	12.37:g.23999036C>A	ENSP00000398273:p.Gly121Val					SOX5_uc001rfx.2_Missense_Mutation_p.G108V|SOX5_uc001rfy.2_Missense_Mutation_p.G108V|SOX5_uc010siv.1_Missense_Mutation_p.G108V|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.G73V|SOX5_uc001rga.2_Missense_Mutation_p.G86V	p.G121V	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	464	-			121					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.362G>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247398	0.80024	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97016	-4.17;-4.17;-4.17;-4.17;-4.21;-4.17;-4.17	5.79	5.79	0.91817	.	0.220600	0.47455	D	0.000232	D	0.96648	0.8906	L	0.43923	1.385	0.80722	D	1	P;D;B;P	0.59357	0.944;0.985;0.386;0.956	P;P;B;P	0.56916	0.79;0.809;0.125;0.649	D	0.96312	0.9229	10	0.49607	T	0.09	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	86;86;108;121	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	V	108;108;108;121;73;86;108;111;111;86;108	ENSP00000437487:G108V;ENSP00000308927:G108V;ENSP00000370788:G108V;ENSP00000398273:G121V;ENSP00000439832:G86V;ENSP00000441973:G108V;ENSP00000443520:G111V	ENSP00000308927:G108V	G	-	2	0	SOX5	23890303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.744000	0.94065	0.650000	0.86243	GGC		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		15	147	1	0	9.16793e-09	0.00499	1.08926e-08	15	147				
PPFIBP1	8496	broad.mit.edu	37	12	27787877	27787877	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:27787877T>C	ENST00000318304.8	+	4	382	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PPFIBP1_ENST00000535047.1_Silent_p.F33F|PPFIBP1_ENST00000545334.1_Silent_p.F33F|PPFIBP1_ENST00000228425.6_Silent_p.F33F|PPFIBP1_ENST00000542629.1_Silent_p.F33F|PPFIBP1_ENST00000537927.1_Intron	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	33					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.F33F(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATGGGATTTTTGATTGCCAAT	0.418																																							uc001ric.1		NA																PPFIBP1/ALK(3)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(3)|kidney(1)|skin(1)	5						c.(97-99)TTT>TTC		PTPRF interacting protein binding protein 1							114.0	117.0	116.0					12																	27787877		2203	4300	6503	SO:0001819	synonymous_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27787877T>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.99T>C	12.37:g.27787877T>C						PPFIBP1_uc001rhy.1_Silent_p.F33F|PPFIBP1_uc001rhz.1_Silent_p.F33F|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Silent_p.F33F|PPFIBP1_uc001ria.2_Silent_p.F33F|PPFIBP1_uc001rid.1_Intron	p.F33F	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			4	476	+	Lung SC(9;0.0873)		33					O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	c.99T>C	CCDS55812.1																																																																																				0.418	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		6	255	0	0	0	0.00308	0	6	255				
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	G	T	rs376320931		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:30783888G>T	ENST00000256079.4	-	25	3358	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	IPO8_ENST00000544829.1_Missense_Mutation_p.A802E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.A1007E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCTTCTTTGCCTCTAGCAT	0.398																																							uc001rjd.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(3019-3021)GCA>GAA		importin 8							80.0	79.0	79.0					12																	30783888		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30783888G>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.3020C>A	12.37:g.30783888G>T	ENSP00000256079:p.Ala1007Glu					IPO8_uc001rje.1_3'UTR|IPO8_uc010sjt.1_Missense_Mutation_p.A802E	p.A1007E	NM_006390	NP_006381	O15397	IPO8_HUMAN			25	3190	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		1007					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.3020C>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689479	0.48097	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.42900	1.96;0.96	4.58	4.58	0.56647	.	0.498867	0.18674	N	0.134374	T	0.24928	0.0605	N	0.08118	0	0.28402	N	0.918582	B;B	0.18968	0.032;0.017	B;B	0.23150	0.017;0.044	T	0.13656	-1.0501	10	0.37606	T	0.19	-4.4083	12.4077	0.55449	0.0:0.169:0.831:0.0	.	802;1007	B7Z7M3;O15397	.;IPO8_HUMAN	E	1007;483;802	ENSP00000256079:A1007E;ENSP00000444520:A802E	ENSP00000256079:A1007E	A	-	2	0	IPO8	30675155	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.709000	0.54853	2.082000	0.62665	0.558000	0.71614	GCA		0.398	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		42	91	1	0	8.69298e-16	0.006999	1.17063e-15	42	91				
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:30837234C>A	ENST00000256079.4	-	3	662		c.e3+1		IPO8_ENST00000538338.1_5'Flank	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCACCACATACCTCACTAAAT	0.398																																							uc001rjd.2		NA																	2	Unknown(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.e3+1		importin 8							197.0	179.0	185.0					12																	30837234		2203	4300	6503	SO:0001630	splice_region_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30837234C>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.323+1G>T	12.37:g.30837234C>A							p.R108_splice	NM_006390	NP_006381	O15397	IPO8_HUMAN			3	493	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)							B7Z7M3	Splice_Site	SNP	ENST00000256079.4	37	c.323_splice	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385171	0.61956	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3392	0.74282	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IPO8	30728501	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	7.289000	0.78701	2.017000	0.59298	0.585000	0.79938	.		0.398	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	Intron	66	168	1	0	5.04879e-28	0.00361	7.83432e-28	66	168				
OVOS2	144203	broad.mit.edu	37	12	31292033	31292033	+	IGR	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:31292033C>T								RP11-551L14.1 (21628 upstream) : FAM60A (141484 downstream)														p.D646N(2)									ATATCTCCATCCCCATAGTTG	0.348																																							uc010sjy.1		NA																	2	Substitution - Missense(2)		lung(2)		NA						c.(1936-1938)GAT>AAT		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							75.0	78.0	77.0					12																	31292033		1772	4017	5789	SO:0001628	intergenic_variant	0							g.chr12:31292033C>T																													12.37:g.31292033C>T							p.D646N							14	1936	-									Missense_Mutation	SNP		37	c.1936G>A																																																																																				0	0.348									29	155	0	0	0	0.00361	0	29	155				
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:32260458G>C	ENST00000281474.5	+	1	296	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000551086.1_Missense_Mutation_p.E65Q|BICD1_ENST00000551848.1_Missense_Mutation_p.E65Q|BICD1_ENST00000550207.1_Missense_Mutation_p.E65Q|BICD1_ENST00000548411.1_Missense_Mutation_p.E65Q	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	65					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.E65Q(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCTCAAACAGGAGCTGGAGCA	0.577																																							uc001rku.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(193-195)GAG>CAG		bicaudal D homolog 1 isoform 1							57.0	46.0	50.0					12																	32260458		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32260458G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.193G>C	12.37:g.32260458G>C	ENSP00000281474:p.Glu65Gln					BICD1_uc001rkv.2_Missense_Mutation_p.E65Q|BICD1_uc010skd.1_RNA	p.E65Q	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		1	274	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		65			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.193G>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263656	0.95399	.	.	ENSG00000151746	ENST00000551848;ENST00000550207;ENST00000548411;ENST00000281474;ENST00000551086	T;T;T;T;T	0.69926	1.06;1.06;-0.42;-0.44;1.06	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000006	T	0.81564	0.4849	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.991;0.991	T	0.80906	-0.1173	10	0.34782	T	0.22	.	17.7955	0.88568	0.0:0.0:1.0:0.0	.	65;65	F8W113;Q96G01	.;BICD1_HUMAN	Q	65	ENSP00000448933:E65Q;ENSP00000447663:E65Q;ENSP00000446793:E65Q;ENSP00000281474:E65Q;ENSP00000447238:E65Q	ENSP00000281474:E65Q	E	+	1	0	BICD1	32151725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.971000	0.93419	2.422000	0.82143	0.655000	0.94253	GAG		0.577	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		2	7	0	0	0	0.009096	0	2	7				
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	C	A	rs543800729		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:32908775C>A	ENST00000324868.8	-	1	61	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.G12C(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GACCACCGGCCCCAGGAAAAG	0.612											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rli.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(34-36)GGC>TGC		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						24.0	28.0	26.0					12																	32908775		2195	4297	6492	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32908775C>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.34G>T	12.37:g.32908775C>A	ENSP00000320658:p.Gly12Cys		OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.G12C	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			1	100	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		12					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.34G>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752381	0.31046	.	.	ENSG00000139131	ENST00000324868	T	0.73047	-0.71	4.66	0.74	0.18330	.	0.989580	0.08238	N	0.976504	T	0.51024	0.1650	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.39603	-0.9606	10	0.49607	T	0.09	-8.1239	5.5091	0.16870	0.3997:0.4548:0.0:0.1454	.	12	Q9Y2Z4	SYYM_HUMAN	C	12	ENSP00000320658:G12C	ENSP00000320658:G12C	G	-	1	0	YARS2	32800042	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.504000	0.06375	0.042000	0.15717	-0.158000	0.13435	GGC		0.612	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		15	19	1	0	1.3612e-06	0.003163	1.55074e-06	15	19				
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:45810526C>T	ENST00000320560.8	+	17	2258	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	ANO6_ENST00000441606.2_Silent_p.L668L|ANO6_ENST00000423947.3_Silent_p.L707L|ANO6_ENST00000435642.1_Silent_p.L686L|ANO6_ENST00000425752.2_Silent_p.L686L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	686					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.L686L(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCTTTTCCACTGGCCCCTCT	0.473																																							uc001roo.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|kidney(1)	2						c.(2056-2058)CTG>TTG		anoctamin 6 isoform a							157.0	130.0	139.0					12																	45810526		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45810526C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2056C>T	12.37:g.45810526C>T						ANO6_uc010sld.1_Silent_p.L686L|ANO6_uc010sle.1_Silent_p.L686L|ANO6_uc010slf.1_Silent_p.L707L|ANO6_uc010slg.1_Silent_p.L668L	p.L686L	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			17	2391	+			686			Helical; (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.2056C>T	CCDS31782.1																																																																																				0.473	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		113	150	0	0	0	0.00361	0	113	150				
ARID2	196528	broad.mit.edu	37	12	46233207	46233207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:46233207C>T	ENST00000334344.6	+	11	1598	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q86*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q327*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	476					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCCAGTCATCAAATGTTATC	0.413			"""N, S, F"""		hepatocellular carcinoma																																		uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1426-1428)CAA>TAA		AT rich interactive domain 2 (ARID, RFX-like)							181.0	165.0	170.0					12																	46233207		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233207C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1426C>T	12.37:g.46233207C>T	ENSP00000335044:p.Gln476*					ARID2_uc001ror.2_Nonsense_Mutation_p.Q476*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q103*|ARID2_uc001rot.1_Nonsense_Mutation_p.Q122*	p.Q476*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1426	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	476					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.1426C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	39	7.707507	0.98444	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.0944	19.0739	0.93151	0.0:1.0:0.0:0.0	.	.	.	.	X	476;327;86	.	ENSP00000335044:Q476X	Q	+	1	0	ARID2	44519474	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.562000	0.73960	2.584000	0.87258	0.655000	0.94253	CAA		0.413	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		8	496	0	0	0	0.00308	0	8	496				
SCAF11	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:46320773C>A	ENST00000369367.3	-	11	2944	c.2711G>T	c.(2710-2712)gGa>gTa	p.G904V	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.G589V|SCAF11_ENST00000419565.2_Missense_Mutation_p.G904V|SCAF11_ENST00000549162.1_Missense_Mutation_p.G712V	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	904	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G904V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTCTCCTGGGGAAGA	0.458																																							uc001rox.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2710-2712)GGA>GTA		splicing factor, arginine/serine-rich 2,							120.0	127.0	125.0					12																	46320773		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320773C>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2711G>T	12.37:g.46320773C>A	ENSP00000358374:p.Gly904Val					SFRS2IP_uc001row.2_Missense_Mutation_p.G589V|SFRS2IP_uc001roy.1_Missense_Mutation_p.G978V	p.G904V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	2998	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	904			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2711G>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627062	0.28978	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.42513	1.57;2.31;1.57;2.31;0.97	5.93	3.09	0.35607	.	0.235589	0.37483	N	0.002071	T	0.22003	0.0530	N	0.14661	0.345	0.38009	D	0.93446	B;B	0.33583	0.418;0.112	B;B	0.28139	0.086;0.039	T	0.11792	-1.0573	10	0.45353	T	0.12	-5.2963	8.1802	0.31307	0.0:0.7338:0.128:0.1382	.	712;904	F8VXG7;Q99590	.;SCAFB_HUMAN	V	589;904;712;904;844	ENSP00000449812:G589V;ENSP00000358374:G904V;ENSP00000448864:G712V;ENSP00000413036:G904V;ENSP00000446746:G844V	ENSP00000358374:G904V	G	-	2	0	SCAF11	44607040	0.999000	0.42202	0.849000	0.33467	0.984000	0.73092	3.539000	0.53604	0.838000	0.34948	0.655000	0.94253	GGA		0.458	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		126	159	1	0	1.06126e-43	0.00361	1.81642e-43	126	159				
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:48143570C>A	ENST00000449771.2	-	9	936	c.848G>T	c.(847-849)tGg>tTg	p.W283L	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.W241L|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.W241L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.W283L			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	283					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.W241L(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GATAATGTACCACGAAGTGCC	0.592																																							uc009zkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)|pancreas(1)	4						c.(721-723)TGG>TTG		Rap guanine nucleotide exchange factor 3 isoform							145.0	127.0	133.0					12																	48143570		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48143570C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.848G>T	12.37:g.48143570C>A	ENSP00000395708:p.Trp283Leu					RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.W241L|RAPGEF3_uc001rpz.3_Missense_Mutation_p.W283L|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.W295L|RAPGEF3_uc001rqb.3_Missense_Mutation_p.W283L	p.W241L	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	8	1162	-	Lung SC(27;0.192)		241					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.722G>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887870	0.91814	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	4.55	4.55	0.56014	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	N	0.17379	0.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.91667	0.5347	10	0.87932	D	0	.	16.4334	0.83861	0.0:1.0:0.0:0.0	.	295;283;283	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	L	241;283;241;241;241;283;295;241;283	ENSP00000384521:W241L;ENSP00000395708:W283L;ENSP00000448619:W241L;ENSP00000171000:W241L;ENSP00000373864:W283L;ENSP00000448480:W241L;ENSP00000378764:W283L	ENSP00000171000:W241L	W	-	2	0	RAPGEF3	46429837	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.253000	0.78320	2.531000	0.85337	0.650000	0.86243	TGG		0.592	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		27	31	1	0	1.39806e-14	0.008361	1.83686e-14	27	31				
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:49170251C>A	ENST00000307885.4	-	6	2189	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.V499L|ADCY6_ENST00000550422.1_Missense_Mutation_p.V499L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	499					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.V499L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGGGTCACATCATTGGAC	0.647																																							uc001rsh.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1495-1497)GTG>TTG		adenylate cyclase 6 isoform a							66.0	59.0	62.0					12																	49170251		2203	4299	6502	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170251C>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1495G>T	12.37:g.49170251C>A	ENSP00000311405:p.Val499Leu					ADCY6_uc001rsj.3_Missense_Mutation_p.V499L|ADCY6_uc001rsi.3_Missense_Mutation_p.V499L|ADCY6_uc010slw.1_5'Flank	p.V499L	NM_015270	NP_056085	O43306	ADCY6_HUMAN			6	2155	-			499			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1495G>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686414	0.88639	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.91068	-2.78;-2.78;-2.78	4.17	4.17	0.49024	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000003	D	0.96895	0.8986	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.98225	1.0480	10	0.87932	D	0	.	15.7652	0.78120	0.0:1.0:0.0:0.0	.	499;499	O43306-2;O43306	.;ADCY6_HUMAN	L	499	ENSP00000350536:V499L;ENSP00000446730:V499L;ENSP00000311405:V499L	ENSP00000311405:V499L	V	-	1	0	ADCY6	47456518	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	7.651000	0.83577	2.321000	0.78463	0.313000	0.20887	GTG		0.647	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		16	40	1	0	0.000566183	0.00499	0.000612703	16	40				
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:51442900G>T	ENST00000262055.4	+	2	245	c.206G>T	c.(205-207)gGg>gTg	p.G69V	LETMD1_ENST00000547008.1_Missense_Mutation_p.G69V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000380123.2_Missense_Mutation_p.G69V|LETMD1_ENST00000550929.1_Missense_Mutation_p.G13V|LETMD1_ENST00000418425.2_Missense_Mutation_p.G69V|LETMD1_ENST00000552739.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	69	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.G69V(2)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCGATTAATGGGAAATACCAT	0.398																																							uc001rxm.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(205-207)GGG>GTG		LETM1 domain containing 1 isoform 1							128.0	113.0	118.0					12																	51442900		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442900G>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.206G>T	12.37:g.51442900G>T	ENSP00000262055:p.Gly69Val					LETMD1_uc010smz.1_Missense_Mutation_p.G69V|LETMD1_uc010sna.1_Missense_Mutation_p.G69V|LETMD1_uc001rxl.2_Missense_Mutation_p.G13V|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Missense_Mutation_p.G69V|LETMD1_uc009zlw.2_Missense_Mutation_p.G69V|LETMD1_uc001rxn.2_5'UTR|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Missense_Mutation_p.G69V|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_5'UTR	p.G69V	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN			2	262	+			69			Cytoplasmic (Potential).|Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.206G>T	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.034381|2.034381	0.35893|0.35893	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008|ENST00000547256	T;T;T;T;T;T;T;T;T;T;T|.	0.46819|.	0.95;0.97;0.94;0.92;0.89;0.9;0.86;0.9;0.92;0.94;0.91|.	4.7|4.7	1.54|1.54	0.23209|0.23209	.|.	0.559495|0.559495	0.18769|0.18769	N|N	0.131675|0.131675	T|.	0.38321|.	0.1036|.	N|N	0.24115|0.24115	0.695|0.695	0.53005|0.53005	D|D	0.999966|0.999966	B;B;B;B;B;B|.	0.31125|.	0.033;0.006;0.309;0.01;0.002;0.242|.	B;B;B;B;B;B|.	0.32289|.	0.027;0.01;0.107;0.027;0.006;0.143|.	T|.	0.26326|.	-1.0106|.	10|.	0.27785|0.87932	T|D	0.31|0	-0.8996|-0.8996	2.2935|2.2935	0.04144|0.04144	0.4099:0.0:0.3626:0.2274|0.4099:0.0:0.3626:0.2274	.|.	69;69;69;69;69;69|.	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0|.	.;.;.;.;.;LTMD1_HUMAN|.	V|X	36;13;69;69;69;69;69;69;76;69;69;69|14	ENSP00000446862:G36V;ENSP00000450163:G13V;ENSP00000262055:G69V;ENSP00000448110:G69V;ENSP00000449896:G69V;ENSP00000450275:G69V;ENSP00000447166:G69V;ENSP00000369466:G69V;ENSP00000450082:G76V;ENSP00000389903:G69V;ENSP00000447419:G69V|.	ENSP00000262055:G69V|ENSP00000446551:G14X	G|G	+|+	2|1	0|0	LETMD1|LETMD1	49729167|49729167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	2.456000|2.456000	0.44997|0.44997	0.234000|0.234000	0.21139|0.21139	-0.181000|-0.181000	0.13052|0.13052	GGG|GGA		0.398	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		41	64	1	0	4.17328e-34	0.00361	6.72708e-34	41	64				
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:51689596C>G	ENST00000267012.4	-	9	806	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	BIN2_ENST00000604560.1_Missense_Mutation_p.V222L|BIN2_ENST00000452142.2_Missense_Mutation_p.V217L|BIN2_ENST00000544402.1_Missense_Mutation_p.V223L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.V249L(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTCCCTTCACCACAAAGACT	0.453																																							uc001ryg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(745-747)GTG>CTG		bridging integrator 2							239.0	202.0	215.0					12																	51689596		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51689596C>G	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.745G>C	12.37:g.51689596C>G	ENSP00000267012:p.Val249Leu					BIN2_uc009zlz.2_Missense_Mutation_p.V217L|BIN2_uc001ryh.2_Missense_Mutation_p.V125L|BIN2_uc010sng.1_Missense_Mutation_p.V223L	p.V249L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			9	797	-			249					Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.745G>C	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681414	0.47991	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96232	-3.95;-0.16;-0.16	4.76	4.76	0.60689	.	0.154316	0.42964	D	0.000629	D	0.92466	0.7608	L	0.36672	1.1	0.30998	N	0.720603	P;P;P	0.43578	0.811;0.811;0.714	B;B;B	0.42319	0.383;0.383;0.213	D	0.90457	0.4443	10	0.39692	T	0.17	-8.4276	7.3296	0.26575	0.0:0.8199:0.0:0.1801	.	223;217;249	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	L	217;249;223	ENSP00000410217:V217L;ENSP00000267012:V249L;ENSP00000445874:V223L	ENSP00000267012:V249L	V	-	1	0	BIN2	49975863	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.006000	0.40874	2.647000	0.89833	0.484000	0.47621	GTG		0.453	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			122	250	0	0	0	0.00361	0	122	250				
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:52885477C>A	ENST00000330722.6	-	2	652	c.584G>T	c.(583-585)tGg>tTg	p.W195L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.W195L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGGGTCCACTTTGTTTC	0.522																																							uc001sam.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(583-585)TGG>TTG		keratin 6A							69.0	70.0	70.0					12																	52885477		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52885477C>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.584G>T	12.37:g.52885477C>A	ENSP00000369317:p.Trp195Leu						p.W195L	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	793	-			195			Coil 1A.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.584G>T	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	34	5.406979	0.96051	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.77098	-1.07	5.26	5.26	0.73747	Filament (1);	0.000000	0.53938	D	0.000050	D	0.83783	0.5329	L	0.56199	1.76	0.80722	D	1	P	0.41041	0.736	P	0.53760	0.734	T	0.83306	-0.0025	10	0.49607	T	0.09	.	19.2413	0.93886	0.0:1.0:0.0:0.0	.	195	P02538	K2C6A_HUMAN	L	195;151	ENSP00000369317:W195L	ENSP00000369317:W195L	W	-	2	0	KRT6A	51171744	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.932000	0.70121	2.619000	0.88677	0.561000	0.74099	TGG		0.522	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		29	42	1	0	2.84144e-21	0.00361	4.13578e-21	29	42				
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:52910579A>G	ENST00000252242.4	-	7	1671	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	427	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.D427D(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCCTGGCATCCTTGAGGG	0.617																																							uc001san.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1279-1281)GAT>GAC		keratin 5							89.0	80.0	83.0					12																	52910579		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910579A>G		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1281T>C	12.37:g.52910579A>G						KRT5_uc009zmh.2_Silent_p.D427D	p.D427D	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1444	-			427			Rod.|Coil 2.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.1281T>C	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	A	9.008	0.981666	0.18812	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.93	-4.01	0.04045	.	.	.	.	.	T	0.63248	0.2495	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61207	-0.7109	4	.	.	.	.	14.3619	0.66779	0.5422:0.0:0.4578:0.0	.	.	.	.	R	135	.	.	C	-	1	0	KRT5	51196846	0.021000	0.18746	0.913000	0.36048	0.781000	0.44180	-0.581000	0.05820	-1.133000	0.02903	-1.139000	0.01908	TGC		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			108	146	0	0	0	0.00361	0	108	146				
SOAT2	8435	broad.mit.edu	37	12	53515143	53515143	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:53515143C>T	ENST00000301466.3	+	12	1254	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	398					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.V398V(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACGTGGTGGTCCATGACTGGC	0.567																																							uc001sbv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1192-1194)GTC>GTT		acyl-CoA:cholesterol acyltransferase 2							163.0	130.0	141.0					12																	53515143		2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53515143C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1194C>T	12.37:g.53515143C>T						SOAT2_uc009zms.2_RNA	p.V398V	NM_003578	NP_003569	O75908	SOAT2_HUMAN			12	1282	+			398					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.1194C>T	CCDS8847.1																																																																																				0.567	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			8	140	0	0	0	0.008291	0	8	140				
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:54767848G>C	ENST00000338010.5	-	4	383	c.330C>G	c.(328-330)acC>acG	p.T110T	ZNF385A_ENST00000352268.6_Silent_p.T110T|ZNF385A_ENST00000551109.1_Silent_p.T90T|ZNF385A_ENST00000394313.2_Silent_p.T90T|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Silent_p.T90T|ZNF385A_ENST00000546970.1_Silent_p.T90T	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	110					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T90T(4)|p.T110T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCTGCCTCTGGTCTTGGCAG	0.597																																							uc001sfw.1		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(1)	1						c.(268-270)ACC>ACG		zinc finger protein 385A isoform c							89.0	75.0	80.0					12																	54767848		2203	4300	6503	SO:0001819	synonymous_variant	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54767848G>C	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.330C>G	12.37:g.54767848G>C						ZNF385A_uc001sfv.1_Silent_p.T71T|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Silent_p.T90T|ZNF385A_uc001sfx.1_Silent_p.T90T|ZNF385A_uc001sfy.3_Silent_p.T110T|ZNF385A_uc001sfz.3_Silent_p.T110T	p.T90T	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN			3	453	-			90					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	ENST00000338010.5	37	c.270C>G	CCDS44911.1																																																																																				0.597	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		12	22	0	0	0	0.007413	0	12	22				
TESPA1	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55356793G>A	ENST00000449076.1	-	9	1021	c.889C>T	c.(889-891)Cga>Tga	p.R297*	TESPA1_ENST00000532804.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000524622.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.R297*|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	297					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R297*(2)|p.R159*(2)									GGCCGGTCTCGGGGGCATGTG	0.542																																							uc001sgn.3		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(889-891)CGA>TGA		hypothetical protein LOC9840							65.0	66.0	66.0					12																	55356793		1950	4124	6074	SO:0001587	stop_gained	9840							g.chr12:55356793G>A	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.889C>T	12.37:g.55356793G>A	ENSP00000400892:p.Arg297*					KIAA0748_uc001sgl.3_Nonsense_Mutation_p.R159*|KIAA0748_uc001sgm.3_Nonsense_Mutation_p.R44*|KIAA0748_uc010spb.1_Nonsense_Mutation_p.R44*|KIAA0748_uc010spc.1_Nonsense_Mutation_p.R159*|KIAA0748_uc010spd.1_Nonsense_Mutation_p.R297*|KIAA0748_uc001sgo.3_RNA	p.R297*	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			9	999	-			297					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Nonsense_Mutation	SNP	ENST00000449076.1	37	c.889C>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614978	0.87359	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	.	.	.	5.49	3.64	0.41730	.	0.088406	0.44097	D	0.000487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1903	11.5622	0.50782	0.0:0.0:0.6755:0.3245	.	.	.	.	X	159;159;297;297;159	.	ENSP00000312679:R297X	R	-	1	2	KIAA0748	53643060	0.572000	0.26668	0.751000	0.31187	0.282000	0.26991	0.971000	0.29396	0.777000	0.33496	-0.169000	0.13324	CGA		0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		97	145	0	0	0	0.00361	0	97	145				
OR6C6	283365	broad.mit.edu	37	12	55688351	55688351	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55688351G>T	ENST00000358433.2	-	1	665	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T222T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTTCAGAATGGTCTTAATAA	0.398																																							uc010sph.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(664-666)ACC>ACA		olfactory receptor, family 6, subfamily C,							110.0	113.0	112.0					12																	55688351		2203	4300	6503	SO:0001819	synonymous_variant	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688351G>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.666C>A	12.37:g.55688351G>T							p.T222T	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	666	-			222			Cytoplasmic (Potential).			Silent	SNP	ENST00000358433.2	37	c.666C>A	CCDS31817.1																																																																																				0.398	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			8	391	1	0	1.12685e-05	0.004482	1.26376e-05	8	391				
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55714510C>A	ENST00000379668.2	+	1	165	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L43I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAACCTGACCCTTATCACAAT	0.423																																							uc010spi.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(127-129)CTT>ATT		olfactory receptor, family 6, subfamily C,							74.0	72.0	73.0					12																	55714510		2203	4300	6503	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714510C>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.127C>A	12.37:g.55714510C>A	ENSP00000368990:p.Leu43Ile						p.L43I	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	127	+			43			Helical; Name=1; (Potential).		B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.127C>A	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.297742	0.00243	.	.	ENSG00000205330	ENST00000379668	T	0.00408	7.54	4.98	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.098404	0.44483	N	0.000444	T	0.00109	0.0003	N	0.00134	-2.025	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.35748	-0.9776	10	0.02654	T	1	.	11.1683	0.48556	0.8452:0.1548:0.0:0.0	.	43	Q96RD1	OR6C1_HUMAN	I	43	ENSP00000368990:L43I	ENSP00000368990:L43I	L	+	1	0	OR6C1	54000777	0.035000	0.19736	0.998000	0.56505	0.122000	0.20287	1.145000	0.31577	0.925000	0.37094	-0.565000	0.04167	CTT		0.423	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		66	85	1	0	2.23399e-28	0.00361	3.48155e-28	66	85				
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:56811918C>A	ENST00000553532.1	-	27	3604	c.3454G>T	c.(3454-3456)Gag>Tag	p.E1152*	TIMELESS_ENST00000229201.4_Splice_Site_p.E1151*|TIMELESS_ENST00000554616.1_Splice_Site_p.E649*					timeless circadian clock									p.E1152*(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTACCCTCTGGGGAT	0.532																																							uc001slf.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|breast(2)|pancreas(1)	8						c.(3454-3456)GAG>TAG		timeless homolog							162.0	169.0	166.0					12																	56811918		2203	4300	6503	SO:0001630	splice_region_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811918C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3454+1G>T	12.37:g.56811918C>A							p.E1152*	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			27	3622	-			1152						Nonsense_Mutation	SNP	ENST00000553532.1	37	c.3454G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	39	7.495632	0.98319	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	5.05	5.05	0.67936	.	0.362105	0.26362	N	0.024812	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1457	14.2939	0.66298	0.0:1.0:0.0:0.0	.	.	.	.	X	1151;1152;649	.	.	E	-	1	0	TIMELESS	55098185	0.984000	0.35163	0.079000	0.20413	0.002000	0.02628	4.409000	0.59768	2.518000	0.84900	0.655000	0.94253	GAG		0.532	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	Nonsense_Mutation	112	172	1	0	7.55469e-51	0.00361	1.32238e-50	112	172				
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:57345827C>A	ENST00000398138.3	-	4	1796	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	314					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.A314S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAGCCTTGGCCGGGCTTGGA	0.537																																					GBM(179;741 2921 43105 45298)	GBM(179;741 2921 43105 45298)	uc001smi.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(940-942)GCC>TCC		retinol dehydrogenase 16							63.0	65.0	64.0					12																	57345827		2000	4178	6178	SO:0001583	missense	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57345827C>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.940G>T	12.37:g.57345827C>A	ENSP00000381206:p.Ala314Ser					RDH16_uc009zpa.2_Missense_Mutation_p.A169S	p.A314S	NM_003708	NP_003699	O75452	RDH16_HUMAN			4	1112	-			314			Lumenal (Potential).		Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	c.940G>T	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835517	0.32421	.	.	ENSG00000139547	ENST00000398138	D	0.88354	-2.37	4.21	0.318	0.15867	.	1.014440	0.07892	N	0.971264	D	0.89332	0.6685	M	0.75777	2.31	0.09310	N	1	P;B	0.48350	0.909;0.144	P;B	0.47705	0.555;0.142	T	0.78239	-0.2281	10	0.56958	D	0.05	.	6.461	0.21956	0.0:0.6299:0.1322:0.2379	.	190;314	Q59FX7;O75452	.;RDH16_HUMAN	S	314	ENSP00000381206:A314S	ENSP00000353980:A190S	A	-	1	0	RDH16	55632094	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.640000	0.05440	0.057000	0.16193	0.650000	0.86243	GCC		0.537	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		34	46	1	0	8.16277e-20	0.006999	1.16611e-19	34	46				
TPH2	121278	broad.mit.edu	37	12	72416181	72416181	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:72416181C>G	ENST00000333850.3	+	9	1212	c.1071C>G	c.(1069-1071)tgC>tgG	p.C357W		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	357					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.C357W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTCTTCAGTGCTATTTCTTCA	0.413																																							uc009zrw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1069-1071)TGC>TGG		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						117.0	105.0	109.0					12																	72416181		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72416181C>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1071C>G	12.37:g.72416181C>G	ENSP00000329093:p.Cys357Trp					TPH2_uc001swy.2_Missense_Mutation_p.C267W	p.C357W	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			9	1212	+			357					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1071C>G	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006400	0.54361	.	.	ENSG00000139287	ENST00000333850	D	0.99552	-6.15	5.98	3.85	0.44370	Aromatic amino acid hydroxylase, C-terminal (3);	0.095949	0.85682	D	0.000000	D	0.99609	0.9858	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98128	1.0429	10	0.87932	D	0	-21.2908	11.1181	0.48273	0.0:0.7832:0.0:0.2168	.	357	Q8IWU9	TPH2_HUMAN	W	357	ENSP00000329093:C357W	ENSP00000329093:C357W	C	+	3	2	TPH2	70702448	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	0.797000	0.26999	1.538000	0.49270	0.591000	0.81541	TGC		0.413	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		10	270	0	0	0	0.001368	0	10	270				
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:76424788C>A	ENST00000266671.5	-	1	2924	c.734G>T	c.(733-735)cGc>cTc	p.R245L	RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.R104L|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	245	PH.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R245L(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTTGCCCTTGCGCTCCACACA	0.612																																							uc001sxu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(733-735)CGC>CTC		pleckstrin homology-like domain, family A,							112.0	82.0	92.0					12																	76424788		2203	4300	6503	SO:0001583	missense	22822				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	g.chr12:76424788C>A	Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.734G>T	12.37:g.76424788C>A	ENSP00000266671:p.Arg245Leu						p.R245L	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN			1	769	-		Colorectal(145;0.09)	245			PH.		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	ENST00000266671.5	37	c.734G>T	CCDS31861.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098660	0.94197	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.50813	0.73	4.66	3.76	0.43208	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.54323	1.7	0.54753	D	0.999987	D	0.56968	0.978	P	0.56042	0.79	T	0.62300	-0.6883	10	0.87932	D	0	-26.8562	13.8644	0.63578	0.1542:0.8458:0.0:0.0	.	245	Q8WV24	PHLA1_HUMAN	L	245;104	ENSP00000266671:R245L	ENSP00000266671:R245L	R	-	2	0	PHLDA1	74711055	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.429000	0.80309	1.159000	0.42565	0.561000	0.74099	CGC		0.612	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		39	39	1	0	4.14194e-30	0.002852	6.54947e-30	39	39				
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:91358003G>T	ENST00000261172.3	-	7	991	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	300					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.P300H(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GAGATTAATAGGGTTTCCATC	0.393																																							uc001tbk.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(898-900)CCT>CAT		dermatan sulfate proteoglycan 3 precursor							160.0	143.0	149.0					12																	91358003		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91358003G>T	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.899C>A	12.37:g.91358003G>T	ENSP00000261172:p.Pro300His						p.P300H	NM_004950	NP_004941	Q99645	EPYC_HUMAN			7	992	-			300			LRR 6.		A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.899C>A	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461065	0.84317	.	.	ENSG00000083782	ENST00000261172	T	0.03035	4.07	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00379	-1.1777	10	0.72032	D	0.01	.	19.579	0.95458	0.0:0.0:1.0:0.0	.	300	Q99645	EPYC_HUMAN	H	300	ENSP00000261172:P300H	ENSP00000261172:P300H	P	-	2	0	EPYC	89882134	1.000000	0.71417	0.994000	0.49952	0.730000	0.41778	9.476000	0.97823	2.617000	0.88574	0.591000	0.81541	CCT		0.393	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		41	59	1	0	3.70713e-34	0.00361	5.98461e-34	41	59				
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:111336809G>T	ENST00000308208.5	+	10	1464	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	CCDC63_ENST00000552694.1_Missense_Mutation_p.D329Y|CCDC63_ENST00000545036.1_Missense_Mutation_p.D368Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAGACCTTGGATCTATTGAA	0.507																																							uc001trv.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(6)|ovary(1)|pancreas(1)	8						c.(1222-1224)GAT>TAT		coiled-coil domain containing 63							109.0	101.0	104.0					12																	111336809		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111336809G>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1222G>T	12.37:g.111336809G>T	ENSP00000312399:p.Asp408Tyr					CCDC63_uc010sye.1_Missense_Mutation_p.D368Y|CCDC63_uc001trw.1_Missense_Mutation_p.D323Y	p.D408Y	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			10	1417	+			408			Potential.		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.1222G>T	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700914	0.30142	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.25579	1.79;1.79;1.79	4.49	3.57	0.40892	.	0.479708	0.23062	N	0.052371	T	0.29716	0.0742	L	0.29908	0.895	0.19945	N	0.999943	D	0.56035	0.974	P	0.54312	0.748	T	0.06267	-1.0836	10	0.56958	D	0.05	.	12.0465	0.53483	0.0:0.1751:0.8248:0.0	.	408	Q8NA47	CCD63_HUMAN	Y	368;408;329	ENSP00000445881:D368Y;ENSP00000312399:D408Y;ENSP00000450217:D329Y	ENSP00000312399:D408Y	D	+	1	0	CCDC63	109821192	1.000000	0.71417	0.440000	0.26846	0.034000	0.12701	3.697000	0.54764	1.149000	0.42402	0.542000	0.68232	GAT		0.507	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		82	81	1	0	1.13884e-41	0.00361	1.9218e-41	82	81				
TBX5	6910	broad.mit.edu	37	12	114804114	114804114	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:114804114C>T	ENST00000310346.4	-	8	1504	c.838G>A	c.(838-840)Gct>Act	p.A280T	TBX5_ENST00000405440.2_Missense_Mutation_p.A280T|TBX5_ENST00000526441.1_Missense_Mutation_p.A280T|TBX5_ENST00000349716.5_Missense_Mutation_p.A230T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	280					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A280T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGGAGAGAGCTCGAGACTCG	0.552																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(838-840)GCT>ACT		T-box 5 isoform 1							134.0	112.0	120.0					12																	114804114		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114804114C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.838G>A	12.37:g.114804114C>T	ENSP00000309913:p.Ala280Thr					TBX5_uc001tvp.2_Missense_Mutation_p.A280T|TBX5_uc001tvq.2_Missense_Mutation_p.A230T|TBX5_uc010syv.1_Missense_Mutation_p.A280T	p.A280T	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1333	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		280					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.838G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057994	0.55325	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.62	5.62	0.85841	.	0.235329	0.44688	D	0.000436	T	0.66426	0.2788	L	0.34521	1.04	0.32759	N	0.505387	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.65236	-0.6217	10	0.18276	T	0.48	.	12.9229	0.58243	0.0:0.9261:0.0:0.0739	.	280;280	Q99593-2;Q99593	.;TBX5_HUMAN	T	230;280;177;280;280	ENSP00000337723:A230T;ENSP00000309913:A280T;ENSP00000384152:A280T;ENSP00000433292:A280T	ENSP00000309913:A280T	A	-	1	0	TBX5	113288497	0.998000	0.40836	0.984000	0.44739	0.915000	0.54546	3.836000	0.55813	2.662000	0.90505	0.655000	0.94253	GCT		0.552	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		21	224	0	0	0	0.002299	0	21	224				
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	C	A	rs140580685	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:115114148C>A	ENST00000257566.3	-	6	1458	c.1069G>T	c.(1069-1071)Gcc>Tcc	p.A357S	TBX3_ENST00000349155.2_Missense_Mutation_p.A337S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	357					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A357S(2)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACAGTGGAGGCGGCTGGAGAA	0.522																																							uc001tvt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1069-1071)GCC>TCC		T-box 3 protein isoform 2							118.0	113.0	115.0					12																	115114148		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114148C>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1069G>T	12.37:g.115114148C>A	ENSP00000257566:p.Ala357Ser					TBX3_uc001tvu.1_Missense_Mutation_p.A337S	p.A357S	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	6	2033	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		357					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1069G>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395652	0.25205	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.86769	-2.17;-2.16	4.68	4.68	0.58851	Transcription factor, T-box, region of unknown function (1);	0.659750	0.15309	N	0.269194	T	0.79981	0.4540	N	0.19112	0.55	0.24834	N	0.992502	B;B	0.21071	0.004;0.051	B;B	0.31101	0.005;0.124	T	0.59637	-0.7417	10	0.08837	T	0.75	.	16.9329	0.86195	0.0:1.0:0.0:0.0	.	337;357	O15119-2;O15119	.;TBX3_HUMAN	S	337;357;357	ENSP00000257567:A337S;ENSP00000257566:A357S	ENSP00000257566:A357S	A	-	1	0	TBX3	113598531	1.000000	0.71417	0.069000	0.20011	0.920000	0.55202	5.486000	0.66856	2.293000	0.77203	0.650000	0.86243	GCC		0.522	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		39	33	1	0	5.2432e-18	0.00361	7.36367e-18	39	33				
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A	rs181652902	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:117718572G>A	ENST00000338101.4	-	7	1486	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000317775.6_Silent_p.D494D|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGGTGGAGCCGTCAGGCTGCT	0.617													G|||	9	0.00179712	0.0	0.0	5008	,	,		16428	0.0089		0.0	False		,,,				2504	0.0				Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|pancreas(1)	7						c.(1480-1482)GAC>GAT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)	G	,,,	0,4122		0,0,2061	45.0	57.0	53.0		1482,474,474,1482	-10.3	0.0	12		53	3,8461		0,3,4229	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	0,3,6290	AA,AG,GG		0.0354,0.0,0.0238	,,,	494/1435,158/1099,158/1099,494/1469	117718572	3,12583	2061	4232	6293	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117718572G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1482C>T	12.37:g.117718572G>A							p.D494D	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	8	2168	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		494						Silent	SNP	ENST00000338101.4	37	c.1482C>T	CCDS55890.1																																																																																				0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	79	0	0	0	0.006214	0	8	79				
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:120263085C>A	ENST00000261833.7	-	8	893	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	CIT_ENST00000392521.2_Missense_Mutation_p.G281C	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G281C(4)|p.G282C(2)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTCCAGGCCGTAGGTGCCT	0.527																																							uc001txi.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(841-843)GGC>TGC		citron							127.0	114.0	119.0					12																	120263085		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120263085C>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.841G>T	12.37:g.120263085C>A	ENSP00000261833:p.Gly281Cys					CIT_uc001txj.1_Missense_Mutation_p.G281C	p.G281C	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	8	894	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	281			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.841G>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219127	0.39201	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.46819	0.86;0.86	5.69	-3.37	0.04898	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.282519	0.32473	N	0.006056	T	0.64011	0.2560	M	0.83603	2.65	0.50813	D	0.999892	D;P	0.71674	0.998;0.754	D;P	0.69824	0.966;0.795	T	0.64989	-0.6277	10	0.87932	D	0	.	11.592	0.50951	0.0:0.4866:0.0:0.5134	.	281;281	Q2M5E1;O14578	.;CTRO_HUMAN	C	281	ENSP00000376306:G281C;ENSP00000261833:G281C	ENSP00000261833:G281C	G	-	1	0	CIT	118747468	0.351000	0.24887	0.000000	0.03702	0.017000	0.09413	1.032000	0.30178	-1.129000	0.02918	-1.105000	0.02106	GGC		0.527	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		124	170	1	0	1.7381e-60	0.00361	3.15487e-60	124	170				
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25356050G>A	ENST00000255324.5	+	6	631	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RNF17_ENST00000381921.1_Silent_p.Q193Q|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.Q193Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q193Q(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAGAAACAGTTTGACCAAC	0.328																																							uc001upr.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|skin(1)	2						c.(577-579)CAG>CAA		ring finger protein 17							146.0	160.0	155.0					13																	25356050		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25356050G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.579G>A	13.37:g.25356050G>A						RNF17_uc010tdd.1_Silent_p.Q52Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.Q193Q|RNF17_uc001ups.2_Silent_p.Q132Q|RNF17_uc001upq.1_Silent_p.Q193Q	p.Q193Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	6	620	+		Lung SC(185;0.0225)|Breast(139;0.077)	193					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.579G>A	CCDS9308.2																																																																																				0.328	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		36	200	0	0	0	0.00361	0	36	200				
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25881957G>T	ENST00000381736.3	+	2	371	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	NUPL1_ENST00000463407.1_Missense_Mutation_p.G41W|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.G41W	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	41	14 X 2 AA repeats of F-G.				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 transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.G41W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCTTCTGTGGGGCTCAATTT	0.378																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	uc001uqi.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(121-123)GGG>TGG		nucleoporin like 1 isoform a							60.0	65.0	63.0					13																	25881957		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25881957G>T	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.121G>T	13.37:g.25881957G>T	ENSP00000371155:p.Gly41Trp					NUPL1_uc001uqg.1_Missense_Mutation_p.G41W|NUPL1_uc001uqj.2_Missense_Mutation_p.G41W	p.G41W	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	2	367	+		Lung SC(185;0.0225)|Breast(139;0.0351)	41			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.121G>T	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385058	0.82792	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747	T;T;T;T	0.53857	0.96;1.13;0.6;1.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78357	-0.2235	10	0.87932	D	0	-0.547	19.8544	0.96750	0.0:0.0:1.0:0.0	.	41;41;41	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	W	41;41;18;41;41;41	ENSP00000371155:G41W;ENSP00000418555:G41W;ENSP00000371137:G41W;ENSP00000371166:G41W	ENSP00000318459:G18W	G	+	1	0	NUPL1	24779957	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.511000	0.73733	2.693000	0.91896	0.655000	0.94253	GGG		0.378	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			12	51	1	0	9.05144e-12	0.001855	1.14067e-11	12	51				
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:30801606T>C	ENST00000380615.3	-	9	1257	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I364V	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1									p.I364V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTCATCAATGTCCCACGGG	0.378																																							uc001uss.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1090-1092)ATT>GTT		katanin p60 subunit A-like 1							123.0	118.0	119.0					13																	30801606		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30801606T>C	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1090A>G	13.37:g.30801606T>C	ENSP00000369989:p.Ile364Val					KATNAL1_uc001ust.2_Missense_Mutation_p.I364V	p.I364V	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	9	1191	-		Lung SC(185;0.0257)	364						Missense_Mutation	SNP	ENST00000380615.3	37	c.1090A>G	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425816	0.62733	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94184	-3.37;-3.37	4.99	4.99	0.66335	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.64630	1.985	0.80722	D	1	D	0.61697	0.99	D	0.69479	0.964	D	0.95965	0.8965	10	0.66056	D	0.02	-15.5011	14.7001	0.69150	0.0:0.0:0.0:1.0	.	364	Q9BW62	KATL1_HUMAN	V	364	ENSP00000369989:I364V;ENSP00000369991:I364V	ENSP00000369989:I364V	I	-	1	0	KATNAL1	29699606	1.000000	0.71417	0.990000	0.47175	0.436000	0.31835	7.920000	0.87521	1.872000	0.54250	0.460000	0.39030	ATT		0.378	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		72	394	0	0	0	0.00361	0	72	394				
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:31713001C>T	ENST00000320027.5	-	16	2469	c.2125G>A	c.(2125-2127)Gct>Act	p.A709T	HSPH1_ENST00000445273.2_Missense_Mutation_p.A711T|HSPH1_ENST00000380405.4_Missense_Mutation_p.A665T|HSPH1_ENST00000429785.2_Missense_Mutation_p.A528T|HSPH1_ENST00000380406.5_Missense_Mutation_p.A668T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	709					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A709T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGTTCTTCAGCTTCCTGAAAC	0.328																																							uc001utj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2125-2127)GCT>ACT		heat shock 105kD							82.0	80.0	81.0					13																	31713001		2203	4299	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31713001C>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2125G>A	13.37:g.31713001C>T	ENSP00000318687:p.Ala709Thr					HSPH1_uc001utk.2_Missense_Mutation_p.A665T|HSPH1_uc010aaw.2_Missense_Mutation_p.A668T|HSPH1_uc001utl.2_Missense_Mutation_p.A711T|HSPH1_uc010tds.1_Missense_Mutation_p.A633T	p.A709T	NM_006644	NP_006635	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	16	2523	-		Lung SC(185;0.0257)	709					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.2125G>A	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987656	0.53934	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.95	5.1	0.69264	.	0.063522	0.64402	D	0.000006	T	0.25158	0.0611	M	0.68952	2.095	0.53005	D	0.999969	P;P;P;P;P	0.46859	0.885;0.611;0.81;0.766;0.81	P;B;B;B;B	0.44732	0.459;0.408;0.313;0.408;0.313	T	0.03296	-1.1051	10	0.25106	T	0.35	-25.0069	16.4306	0.83841	0.1326:0.8674:0.0:0.0	.	528;668;711;665;709	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	T	709;665;668;711;528	ENSP00000318687:A709T;ENSP00000369768:A665T;ENSP00000369769:A668T;ENSP00000396090:A711T;ENSP00000388778:A528T	ENSP00000318687:A709T	A	-	1	0	HSPH1	30611001	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.740000	0.47418	1.490000	0.48466	0.655000	0.94253	GCT		0.328	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			17	139	0	0	0	0.001882	0	17	139				
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:32811626A>T	ENST00000380250.3	+	44	6417	c.5921A>T	c.(5920-5922)gAa>gTa	p.E1974V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E1974V(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAACTGCCGAACGGAGCCGG	0.532																																							uc001utx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(5920-5922)GAA>GTA		furry homolog							62.0	71.0	68.0					13																	32811626		2022	4187	6209	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32811626A>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5921A>T	13.37:g.32811626A>T	ENSP00000369600:p.Glu1974Val					FRY_uc010tdw.1_RNA	p.E1974V	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6417	+		Lung SC(185;0.0271)	1974					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5921A>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197318	0.38806	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.24538	1.85	6.17	4.97	0.65823	.	0.157630	0.56097	D	0.000033	T	0.20129	0.0484	L	0.34521	1.04	0.80722	D	1	B	0.23937	0.094	B	0.26864	0.074	T	0.04041	-1.0982	10	0.17369	T	0.5	.	12.7112	0.57089	0.8765:0.0:0.0:0.1235	.	1974	Q5TBA9	FRY_HUMAN	V	1974;811	ENSP00000369600:E1974V	ENSP00000369600:E1974V	E	+	2	0	FRY	31709626	1.000000	0.71417	0.974000	0.42286	0.897000	0.52465	5.226000	0.65299	1.113000	0.41760	0.533000	0.62120	GAA		0.532	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	50	0	0	0	0.008291	0	6	50				
PDS5B	23047	broad.mit.edu	37	13	33320130	33320130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33320130A>T	ENST00000315596.10	+	24	2814	c.2628A>T	c.(2626-2628)tcA>tcT	p.S876S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	876					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.S876S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGATATGTCACGTCTGAGAC	0.328																																							uc010abf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(2626-2628)TCA>TCT		PDS5, regulator of cohesion maintenance, homolog							104.0	98.0	100.0					13																	33320130		1915	4133	6048	SO:0001819	synonymous_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33320130A>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2628A>T	13.37:g.33320130A>T						PDS5B_uc010abg.2_RNA	p.S876S	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	24	2786	+		Lung SC(185;0.0367)	876					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.2628A>T	CCDS41878.1																																																																																				0.328	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		21	266	0	0	0	0.008361	0	21	266				
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A	rs374836026		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000255486.4_Missense_Mutation_p.R272L|STARD13_ENST00000399365.3_Missense_Mutation_p.R162L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542																																							uc001uuw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(838-840)CGG>CTG		StAR-related lipid transfer (START) domain							92.0	89.0	90.0					13																	33703975		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703975C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.839G>T	13.37:g.33703975C>A	ENSP00000338785:p.Arg280Leu					STARD13_uc001uuu.2_Missense_Mutation_p.R272L|STARD13_uc001uuv.2_Missense_Mutation_p.R162L|STARD13_uc001uux.2_Missense_Mutation_p.R245L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R265L	p.R280L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	965	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	280					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.839G>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002618	0.74932	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06449	3.3;3.3;3.31	5.81	4.96	0.65561	.	0.212430	0.40728	N	0.001023	T	0.13543	0.0328	M	0.65975	2.015	0.80722	D	1	P;P;B;B	0.49783	0.928;0.638;0.18;0.393	P;B;B;B	0.47299	0.543;0.332;0.081;0.168	T	0.01363	-1.1374	10	0.48119	T	0.1	.	14.8827	0.70545	0.0:0.9312:0.0:0.0688	.	272;245;280;272	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	162;272;280;272	ENSP00000382300:R162L;ENSP00000255486:R272L;ENSP00000338785:R280L	ENSP00000255486:R272L	R	-	2	0	STARD13	32601975	0.961000	0.32948	0.883000	0.34634	0.940000	0.58332	1.428000	0.34892	1.459000	0.47892	0.655000	0.94253	CGG		0.542	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		17	189	1	0	7.07596e-05	0.006122	7.798e-05	17	189				
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	C	A	rs200862645		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33704350C>A	ENST00000336934.5	-	5	580	c.464G>T	c.(463-465)cGt>cTt	p.R155L	STARD13_ENST00000255486.4_Missense_Mutation_p.R147L|STARD13_ENST00000399365.3_Missense_Mutation_p.R37L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.R155L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCGTCCACACGAGACCACCT	0.552																																							uc001uuw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(463-465)CGT>CTT		StAR-related lipid transfer (START) domain							82.0	62.0	69.0					13																	33704350		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704350C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.464G>T	13.37:g.33704350C>A	ENSP00000338785:p.Arg155Leu					STARD13_uc001uuu.2_Missense_Mutation_p.R147L|STARD13_uc001uuv.2_Missense_Mutation_p.R37L|STARD13_uc001uux.2_Missense_Mutation_p.R120L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R140L	p.R155L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	590	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	155					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.464G>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692560	0.88735	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.45276	2.19;0.9;0.9	5.44	5.44	0.79542	.	0.100923	0.64402	N	0.000002	T	0.65954	0.2741	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;0.987	D;D;D;D	0.79108	0.978;0.992;0.982;0.938	T	0.68123	-0.5492	10	0.66056	D	0.02	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	147;120;155;147	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	37;147;155;147	ENSP00000382300:R37L;ENSP00000255486:R147L;ENSP00000338785:R155L	ENSP00000255486:R147L	R	-	2	0	STARD13	32602350	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.731000	0.84895	2.549000	0.85964	0.655000	0.94253	CGT		0.552	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		20	140	1	0	1.12875e-08	0.00632	1.33815e-08	20	140				
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:34404943A>T	ENST00000380071.3	+	6	791	c.661A>T	c.(661-663)Aga>Tga	p.R221*	RNU5A-4P_ENST00000516588.1_RNA|RFC3_ENST00000434425.1_Nonsense_Mutation_p.R221*	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	221					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)	p.R221*(4)		lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAAGTCTTGTAGAAATCTCAG	0.433																																							uc001uuz.2		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(661-663)AGA>TGA		replication factor C 3 isoform 1							82.0	84.0	83.0					13																	34404943		2203	4300	6503	SO:0001587	stop_gained	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34404943A>T		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.661A>T	13.37:g.34404943A>T	ENSP00000369411:p.Arg221*					RFC3_uc001uva.2_Nonsense_Mutation_p.R221*|RFC3_uc010ted.1_Nonsense_Mutation_p.R221*	p.R221*	NM_002915	NP_002906	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	6	771	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	221					C9JU95|O15252|Q5W0E8	Nonsense_Mutation	SNP	ENST00000380071.3	37	c.661A>T	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348541	0.82132	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	.	.	.	5.74	0.304	0.15796	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7035	14.5515	0.68070	0.4542:0.5458:0.0:0.0	.	.	.	.	X	221	.	ENSP00000369411:R221X	R	+	1	2	RFC3	33302943	1.000000	0.71417	0.993000	0.49108	0.266000	0.26442	3.469000	0.53093	-0.156000	0.11079	-0.313000	0.08912	AGA		0.433	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		23	125	0	0	0	0.002096	0	23	125				
NBEA	26960	broad.mit.edu	37	13	35733541	35733541	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:35733541C>A	ENST00000400445.3	+	22	3767	c.3233C>A	c.(3232-3234)cCg>cAg	p.P1078Q	NBEA_ENST00000379939.2_Missense_Mutation_p.P1078Q|NBEA_ENST00000310336.4_Missense_Mutation_p.P1078Q|NBEA_ENST00000540320.1_Missense_Mutation_p.P1078Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1078					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.P1078Q(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTTATCACCGGAGACTTTA	0.403																																							uc001uvb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(2)	11						c.(3232-3234)CCG>CAG		neurobeachin							121.0	117.0	118.0					13																	35733541		1879	4108	5987	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733541C>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3233C>A	13.37:g.35733541C>A	ENSP00000383295:p.Pro1078Gln					NBEA_uc010abi.2_5'Flank	p.P1078Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	23	3439	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1078					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.3233C>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170154	0.38315	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.09	5.09	0.68999	.	0.138006	0.50627	D	0.000118	T	0.41811	0.1175	N	0.19112	0.55	0.80722	D	1	B	0.34372	0.451	B	0.23275	0.045	T	0.38200	-0.9672	10	0.38643	T	0.18	.	18.4855	0.90827	0.0:1.0:0.0:0.0	.	1078	Q5T321	.	Q	1078	ENSP00000440951:P1078Q;ENSP00000383295:P1078Q;ENSP00000369271:P1078Q;ENSP00000308534:P1078Q	ENSP00000308534:P1078Q	P	+	2	0	NBEA	34631541	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	5.550000	0.67268	2.370000	0.80446	0.555000	0.69702	CCG		0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		11	85	1	0	2.31682e-05	0.003163	2.57425e-05	11	85				
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:41507884G>C	ENST00000239882.3	-	9	1851	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	ELF1_ENST00000442101.1_Missense_Mutation_p.Q489E|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q513E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAATGGTCTGAACATTGCTA	0.517																																							uc001uxs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1537-1539)CAG>GAG		E74-like factor 1 (ets domain transcription							107.0	104.0	105.0					13																	41507884		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41507884G>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1537C>G	13.37:g.41507884G>C	ENSP00000239882:p.Gln513Glu					ELF1_uc010tfc.1_Missense_Mutation_p.Q489E|ELF1_uc010acd.2_Missense_Mutation_p.Q406E	p.Q513E	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	1910	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	513					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1537C>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	9.655	1.142489	0.21205	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.19806	2.12;2.12	5.53	5.53	0.82687	.	0.078718	0.53938	D	0.000050	T	0.18923	0.0454	L	0.34521	1.04	0.39730	D	0.971596	B;P	0.37061	0.387;0.58	B;B	0.31869	0.101;0.137	T	0.02950	-1.1090	10	0.46703	T	0.11	.	19.4557	0.94886	0.0:0.0:1.0:0.0	.	489;513	E9PDQ9;P32519	.;ELF1_HUMAN	E	489;255;513	ENSP00000405580:Q489E;ENSP00000239882:Q513E	ENSP00000239882:Q513E	Q	-	1	0	ELF1	40405884	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.636000	0.67848	2.601000	0.87937	0.591000	0.81541	CAG		0.517	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		18	142	0	0	0	0.006122	0	18	142				
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:58209184G>C	ENST00000377918.3	+	1	2530	c.2504G>C	c.(2503-2505)aGc>aCc	p.S835T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	835					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S835T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACACCAGCTTCACCGGA	0.577																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2503-2505)AGC>ACC		protocadherin 17 precursor							33.0	35.0	34.0					13																	58209184		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58209184G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2504G>C	13.37:g.58209184G>C	ENSP00000367151:p.Ser835Thr					PCDH17_uc010aec.1_Missense_Mutation_p.S835T	p.S835T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3396	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	835			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2504G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	1.771	-0.484449	0.04352	.	.	ENSG00000118946	ENST00000377918	T	0.51574	0.7	5.98	5.13	0.70059	.	0.036444	0.85682	D	0.000000	T	0.31544	0.0800	N	0.17082	0.46	0.52501	D	0.999952	B;B	0.20164	0.042;0.011	B;B	0.18871	0.023;0.011	T	0.07986	-1.0744	9	.	.	.	.	14.6256	0.68618	0.0693:0.0:0.9307:0.0	.	835;835	O14917-2;O14917	.;PCD17_HUMAN	T	835	ENSP00000367151:S835T	.	S	+	2	0	PCDH17	57107185	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.837000	0.97791	0.591000	0.81541	AGC		0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	22	0	0	0	0.009096	0	4	22				
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:70314575T>A	ENST00000377844.4	-	8	2512	c.1753A>T	c.(1753-1755)Agt>Tgt	p.S585C	KLHL1_ENST00000545028.1_Missense_Mutation_p.S392C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	585					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGACATACTGGCTACAAAT	0.403																																							uc001vip.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1753-1755)AGT>TGT		kelch-like 1 protein							98.0	86.0	90.0					13																	70314575		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314575T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1753A>T	13.37:g.70314575T>A	ENSP00000367075:p.Ser585Cys					KLHL1_uc010thm.1_Missense_Mutation_p.S524C	p.S585C	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2547	-		Breast(118;0.000162)	585			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1753A>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306923	0.81247	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.81330	-1.48;-1.48	4.95	4.95	0.65309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	D	0.88325	0.6406	M	0.70275	2.135	0.46149	D	0.998891	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.971	D	0.89826	0.3992	10	0.87932	D	0	.	14.8987	0.70661	0.0:0.0:0.0:1.0	.	585;585	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	C	585;392	ENSP00000367075:S585C;ENSP00000439602:S392C	ENSP00000367075:S585C	S	-	1	0	KLHL1	69212576	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.053000	0.71089	2.003000	0.58678	0.402000	0.26972	AGT		0.403	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		23	160	0	0	0	0.005443	0	23	160				
BORA	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:73319235T>A	ENST00000390667.5	+	8	725	c.628T>A	c.(628-630)Tcg>Acg	p.S210T	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.S140T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	210	Ser-rich.		S -> L (in dbSNP:rs9543107).		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.S210T(2)									CTCCTTACCTTCGGCTTCTCC	0.448																																							uc001viv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(628-630)TCG>ACG		aurora borealis							137.0	125.0	129.0					13																	73319235		1846	4089	5935	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73319235T>A	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.628T>A	13.37:g.73319235T>A	ENSP00000375082:p.Ser210Thr					C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.S285T|C13orf34_uc010thr.1_Missense_Mutation_p.S140T|C13orf34_uc001viw.1_Missense_Mutation_p.S159T	p.S210T	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	8	747	+		Breast(118;0.0735)	210			Ser-rich.		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.628T>A	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.801|6.801	0.516804|0.516804	0.13005|0.13005	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377814|ENST00000377815;ENST00000390667	.|T;T	.|0.34472	.|1.36;1.36	6.17|6.17	3.09|3.09	0.35607|0.35607	.|.	.|0.204155	.|0.52532	.|D	.|0.000068	T|T	0.27134|0.27134	0.0665|0.0665	L|L	0.36672|0.36672	1.1|1.1	0.26910|0.26910	N|N	0.966914|0.966914	.|B;B;B;B	.|0.30605	.|0.241;0.287;0.287;0.287	.|B;B;B;B	.|0.32805	.|0.153;0.099;0.153;0.099	T|T	0.13575|0.13575	-1.0504|-1.0504	5|10	.|0.35671	.|T	.|0.21	-2.4076|-2.4076	8.5762|8.5762	0.33601|0.33601	0.0:0.6818:0.0:0.3182|0.0:0.6818:0.0:0.3182	.|.	.|140;210;270;210	.|B4DQ30;A8K631;B5LMG6;Q6PGQ7	.|.;.;.;BORA_HUMAN	Y|T	187|140;210	.|ENSP00000367046:S140T;ENSP00000375082:S210T	.|ENSP00000367046:S140T	F|S	+|+	2|1	0|0	BORA|BORA	72217236|72217236	0.874000|0.874000	0.30092|0.30092	0.998000|0.998000	0.56505|0.56505	0.949000|0.949000	0.60115|0.60115	1.033000|1.033000	0.30191|0.30191	0.255000|0.255000	0.21593|0.21593	0.533000|0.533000	0.62120|0.62120	TTC|TCG		0.448	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		25	207	0	0	0	0.005524	0	25	207				
UCHL3	7347	broad.mit.edu	37	13	76134927	76134927	+	Silent	SNP	C	C	T	rs192624215		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:76134927C>T	ENST00000377595.3	+	3	123	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	31					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F31F(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ACTGGCAATTCGTTGATGTAT	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		19409	0.001		0.0	False		,,,				2504	0.0						uc001vjq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)TTC>TTT		ubiquitin carboxyl-terminal esterase L3							108.0	97.0	100.0					13																	76134927		2203	4300	6503	SO:0001819	synonymous_variant	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76134927C>T	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.93C>T	13.37:g.76134927C>T						UCHL3_uc001vjr.2_5'UTR	p.F31F	NM_006002	NP_005993	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	3	123	+			31					B2R970|Q5TBK8|Q6IBE9	Silent	SNP	ENST00000377595.3	37	c.93C>T	CCDS9453.1																																																																																				0.338	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		5	197	0	0	0	0.001984	0	5	197				
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358																																							uc001vll.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1354-1356)CCA>CAA		slit and trk like 6 precursor							81.0	78.0	79.0					13																	86369289		1811	4073	5884	SO:0001583	missense	84189					integral to membrane		g.chr13:86369289G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1355C>A	13.37:g.86369289G>T	ENSP00000383143:p.Pro452Gln					SLITRK6_uc010afe.1_Intron	p.P452Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1814	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		452			Extracellular (Potential).|LRR 9.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1355C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864221	0.32977	.	.	ENSG00000184564	ENST00000400286	T	0.03689	3.84	5.71	5.71	0.89125	.	0.082967	0.49305	U	0.000143	T	0.14442	0.0349	M	0.77820	2.39	0.51012	D	0.999906	P	0.46512	0.879	P	0.51742	0.678	T	0.00033	-1.2269	10	0.56958	D	0.05	-9.5954	18.427	0.90612	0.0:0.0:1.0:0.0	.	452	Q9H5Y7	SLIK6_HUMAN	Q	452	ENSP00000383143:P452Q	ENSP00000383143:P452Q	P	-	2	0	SLITRK6	85267290	1.000000	0.71417	0.798000	0.32154	0.259000	0.26198	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	CCA		0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		14	106	1	0	2.48551e-13	0.00499	3.2225e-13	14	106				
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:92101100G>T	ENST00000377067.3	+	2	621	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438																																							uc010tif.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(247-249)CAG>CAT		glypican 5 precursor							131.0	121.0	125.0					13																	92101100		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101100G>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.249G>T	13.37:g.92101100G>T	ENSP00000366267:p.Gln83His						p.Q83H	NM_004466	NP_004457	P78333	GPC5_HUMAN			2	615	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	83					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.249G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443614	0.25987	.	.	ENSG00000179399	ENST00000377067	T	0.51574	0.7	5.5	-1.33	0.09172	.	0.117342	0.53938	D	0.000043	T	0.57784	0.2077	M	0.62723	1.935	0.27668	N	0.946842	D	0.65815	0.995	D	0.67231	0.95	T	0.55075	-0.8197	10	0.44086	T	0.13	.	11.1009	0.48174	0.554:0.0:0.446:0.0	.	83	P78333	GPC5_HUMAN	H	83	ENSP00000366267:Q83H	ENSP00000366267:Q83H	Q	+	3	2	GPC5	90899101	0.022000	0.18835	0.838000	0.33150	0.008000	0.06430	-0.665000	0.05286	-0.173000	0.10761	-0.373000	0.07131	CAG		0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		53	276	1	0	7.22619e-39	0.00361	1.20436e-38	53	276				
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:103718254C>A	ENST00000245312.3	-	1	942	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	116					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.A116S(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	ACCCAATAGGCCAAGATATTG	0.507																																							uc001vpy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(346-348)GCC>TCC		solute carrier family 10 (sodium/bile acid							86.0	83.0	84.0					13																	103718254		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718254C>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.346G>T	13.37:g.103718254C>A	ENSP00000245312:p.Ala116Ser						p.A116S	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			1	943	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		116			Extracellular (Potential).		A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.346G>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185289	0.57909	.	.	ENSG00000125255	ENST00000245312	T	0.10668	2.85	5.25	4.4	0.53042	.	0.109014	0.64402	D	0.000004	T	0.09774	0.0240	L	0.33245	0.995	0.33960	D	0.645505	B	0.20780	0.048	B	0.31390	0.129	T	0.14448	-1.0472	10	0.23302	T	0.38	-11.802	10.5288	0.44965	0.0:0.8508:0.0:0.1492	.	116	Q12908	NTCP2_HUMAN	S	116	ENSP00000245312:A116S	ENSP00000245312:A116S	A	-	1	0	SLC10A2	102516255	0.994000	0.37717	1.000000	0.80357	0.939000	0.58152	2.437000	0.44828	2.451000	0.82905	0.655000	0.94253	GCC		0.507	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			23	270	1	0	8.24728e-16	0.004656	1.11338e-15	23	270				
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:108861585G>A	ENST00000356922.4	-	2	2304	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	LIG4_ENST00000442234.1_Silent_p.L678L|LIG4_ENST00000405925.1_Silent_p.L678L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	678	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L678L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCTCCAGGTCAGGCTTT	0.383								Non-homologous end-joining																															uc001vqn.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2032-2034)CTG>TTG	NHEJ	DNA ligase IV							73.0	74.0	74.0					13																	108861585		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861585G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2032C>T	13.37:g.108861585G>A						LIG4_uc001vqo.2_Silent_p.L678L|LIG4_uc010agg.1_Silent_p.L611L|LIG4_uc010agf.2_Silent_p.L678L|LIG4_uc001vqp.2_Silent_p.L678L	p.L678L	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2305	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		678			BRCT 1.		Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2032C>T	CCDS9508.1																																																																																				0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		8	26	0	0	0	0.008291	0	8	26				
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.K24K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577																																							uc001vtq.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(70-72)AAG>AAA		ADP-ribosylhydrolase like 1 isoform 1							112.0	108.0	109.0					13																	114107681		2203	4300	6503	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114107681C>T	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.72G>A	13.37:g.114107681C>T							p.K24K	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		1	159	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	24					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.72G>A	CCDS9535.1																																																																																				0.577	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		18	66	0	0	0	0.001882	0	18	66				
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:20528425C>T	ENST00000315683.1	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S74S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGTCTCTCCACTGCCACAA	0.453																																							uc001vwn.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(220-222)TCC>TCT		olfactory receptor, family 4, subfamily L,							151.0	150.0	150.0					14																	20528425		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528425C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.222C>T	14.37:g.20528425C>T							p.S74S	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	222	+	all_cancers(95;0.00108)		74			Helical; Name=2; (Potential).		Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.222C>T	CCDS32029.1																																																																																				0.453	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			49	392	0	0	0	0.00361	0	49	392				
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21424254C>A	ENST00000304625.2	+	2	414	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418																																							uc010aif.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(322-324)ATC>ATA		ribonuclease, RNase A family, 2 (liver,							88.0	85.0	86.0					14																	21424254		2203	4300	6503	SO:0001819	synonymous_variant	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424254C>A	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.324C>A	14.37:g.21424254C>A						RNASE2_uc001vyl.1_Silent_p.I108I	p.I108I	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	393	+	all_cancers(95;0.00381)		108					Q52M39|Q9H2B7|Q9UCG7	Silent	SNP	ENST00000304625.2	37	c.324C>A	CCDS9561.1																																																																																				0.418	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			69	363	1	0	6.00099e-30	0.00361	9.44762e-30	69	363				
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21486634G>T	ENST00000556147.1	-	13	1783	c.843C>A	c.(841-843)acC>acA	p.T281T	NDRG2_ENST00000350792.3_Silent_p.T267T|NDRG2_ENST00000403829.3_Silent_p.T277T|NDRG2_ENST00000397851.2_Silent_p.T281T|NDRG2_ENST00000397858.1_Silent_p.T281T|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000360463.3_Silent_p.T267T|NDRG2_ENST00000555158.1_Silent_p.T267T|NDRG2_ENST00000553503.1_Silent_p.T267T|NDRG2_ENST00000554143.1_Silent_p.T267T|NDRG2_ENST00000397847.2_Silent_p.T270T|NDRG2_ENST00000298687.5_Silent_p.T281T|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397855.3_Silent_p.T238T|NDRG2_ENST00000397853.3_Silent_p.T281T|NDRG2_ENST00000554104.1_Silent_p.T194T|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000298684.5_Silent_p.T238T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	281					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)		p.T281T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGAGGTCTGGGTGGGGTCCA	0.582																																							uc001vyy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(841-843)ACC>ACA		N-myc downstream-regulated gene 2 isoform a							96.0	90.0	92.0					14																	21486634		2203	4300	6503	SO:0001819	synonymous_variant	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21486634G>T	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.843C>A	14.37:g.21486634G>T						NDRG2_uc010tll.1_Silent_p.T277T|NDRG2_uc001vyt.2_Silent_p.T194T|NDRG2_uc001vyu.2_Silent_p.T238T|NDRG2_uc001vyv.2_Silent_p.T267T|NDRG2_uc001vyw.2_Silent_p.T267T|NDRG2_uc001vzb.2_Silent_p.T221T|NDRG2_uc001vyx.2_Silent_p.T281T|NDRG2_uc001vza.2_Silent_p.T267T|NDRG2_uc001vyz.2_Silent_p.T267T|NDRG2_uc001vzc.2_Intron|NDRG2_uc001vze.2_Silent_p.T281T|NDRG2_uc001vzd.2_Silent_p.T281T|NDRG2_uc001vzg.2_Silent_p.T267T|NDRG2_uc001vzf.2_Silent_p.T267T|NDRG2_uc010aig.2_Silent_p.T270T	p.T281T	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	14	993	-	all_cancers(95;0.00185)		281					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	ENST00000556147.1	37	c.843C>A	CCDS9565.1	.	.	.	.	.	.	.	.	.	.	G	9.424	1.083867	0.20309	.	.	ENSG00000165795	ENST00000553593	.	.	.	5.68	3.75	0.43078	.	.	.	.	.	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52601	-0.8554	4	.	.	.	-19.0479	8.4001	0.32581	0.0:0.1474:0.5281:0.3244	.	.	.	.	H	197	.	.	P	-	2	0	NDRG2	20556474	0.950000	0.32346	1.000000	0.80357	0.999000	0.98932	-0.032000	0.12266	0.665000	0.31066	0.655000	0.94253	CCC		0.582	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			14	33	1	0	9.16793e-09	0.00499	1.08926e-08	14	33				
TRAV13-1	28671	broad.mit.edu	37	14	22337510	22337510	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22337510C>A	ENST00000390436.2	+	0	324									T cell receptor alpha variable 13-1																		AGAGACCCAACCTGAAGACTC	0.493																																							uc010tmf.1		NA																	0					NA						c.(304-306)CCT>ACT		SubName: Full=Putative uncharacterized protein ENSP00000374943;							95.0	95.0	95.0					14																	22337510		1988	4186	6174			0							g.chr14:22337510C>A	AE000659		14q11.2	2012-02-07			ENSG00000211788	ENSG00000211788		"""T cell receptors / TRA locus"""	12108	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168993		14.37:g.22337510C>A						uc001wbw.2_Intron|uc010tmg.1_Intron|uc010tmh.1_Missense_Mutation_p.P101T|uc001wby.2_Intron	p.P102T							2	383	+									Missense_Mutation	SNP	ENST00000390436.2	37	c.304C>A																																																																																					0.493	TRAV13-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401891.1	NG_001332		101	260	1	0	1.2656e-43	0.00361	2.15932e-43	101	260				
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:24877306G>T	ENST00000382554.3	+	3	748	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	144					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.G144C(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGCGCTGGGGCCCTGCCCC	0.687																																							uc001wpf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(430-432)GGC>TGC		hypothetical protein LOC57523							28.0	33.0	31.0					14																	24877306		1973	4151	6124	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877306G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.430G>T	14.37:g.24877306G>T	ENSP00000371994:p.Gly144Cys						p.G144C	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	748	+			144					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.430G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406843	0.62399	.	.	ENSG00000205978	ENST00000382554	T	0.11495	2.77	4.93	4.93	0.64822	.	0.000000	0.35096	N	0.003442	T	0.21881	0.0527	L	0.29908	0.895	0.30783	N	0.741793	D	0.76494	0.999	D	0.70716	0.97	T	0.01360	-1.1375	10	0.87932	D	0	.	15.683	0.77388	0.0:0.0:1.0:0.0	.	144	Q9P2P1	NYNRI_HUMAN	C	144	ENSP00000371994:G144C	ENSP00000371994:G144C	G	+	1	0	NYNRIN	23947146	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.321000	0.33678	2.550000	0.86006	0.563000	0.77884	GGC		0.687	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			5	19	1	0	0.00116845	0.001168	0.00123961	5	19				
GZMH	2999	broad.mit.edu	37	14	25075914	25075914	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:25075914G>T	ENST00000216338.4	-	5	680	c.636C>A	c.(634-636)gcC>gcA	p.A212A	RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Silent_p.A126A|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Silent_p.A81A	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)	p.A212A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GAATACCTTGGGCTACGTCCT	0.532																																							uc001wpr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(634-636)GCC>GCA		granzyme H precursor							106.0	105.0	105.0					14																	25075914		2203	4300	6503	SO:0001819	synonymous_variant	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25075914G>T	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.636C>A	14.37:g.25075914G>T						GZMH_uc010aly.1_Silent_p.A126A|GZMH_uc010alz.1_3'UTR	p.A212A	NM_033423	NP_219491	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	5	681	-			212			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Silent	SNP	ENST00000216338.4	37	c.636C>A	CCDS9632.1																																																																																				0.532	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		24	122	1	0	1.06647e-15	0.003755	1.4308e-15	24	122				
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:30133065C>A	ENST00000331968.5	-	4	765	c.536G>T	c.(535-537)gGg>gTg	p.G179V	PRKD1_ENST00000415220.2_Splice_Site_p.G179V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	179					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G179V(4)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGACCACACCCTGGAAAGGG	0.358																																							uc001wqh.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(535-537)GGG>GTG		protein kinase D1							93.0	97.0	96.0					14																	30133065		2203	4300	6503	SO:0001630	splice_region_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30133065C>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.536-1G>T	14.37:g.30133065C>A							p.G179V	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	717	-	Hepatocellular(127;0.0604)		179			Phorbol-ester/DAG-type 1.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.536G>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962359	0.92791	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.92348	-3.02;-3.02;-3.02	5.77	5.77	0.91146	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	N	0.20574	0.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94245	0.7488	10	0.87932	D	0	.	20.0587	0.97663	0.0:1.0:0.0:0.0	.	179	Q15139	KPCD1_HUMAN	V	179;179;102	ENSP00000333568:G179V;ENSP00000390535:G179V;ENSP00000446866:G102V	ENSP00000333568:G179V	G	-	2	0	PRKD1	29202816	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	7.815000	0.86186	2.742000	0.94016	0.650000	0.86243	GGG		0.358	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	Missense_Mutation	54	163	1	0	9.87224e-16	0.00361	1.32777e-15	54	163				
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:31778370G>T	ENST00000389961.3	-	28	4441	c.4442C>A	c.(4441-4443)gCa>gAa	p.A1481E	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1481E|AL136418.1_ENST00000582500.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1194E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.A1487E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1481								p.A1481E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTAGTCTCTGCTGTGTAGAA	0.368																																							uc001wrf.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(3580-3582)GCA>GAA		HEAT repeat containing 5A							118.0	112.0	113.0					14																	31778370		1864	4108	5972	SO:0001583	missense	25938						binding	g.chr14:31778370G>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4442C>A	14.37:g.31778370G>T	ENSP00000374611:p.Ala1481Glu					HEATR5A_uc010ami.2_Missense_Mutation_p.A1092E	p.A1194E	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	23	3658	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1481					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3581C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.939327|4.939327	0.92526|0.92526	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000538864	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79003|0.79003	0.4373|0.4373	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	P|.	0.45768|.	0.866|.	P|.	0.48815|.	0.591|.	T|T	0.77284|0.77284	-0.2645|-0.2645	10|5	0.51188|.	T|.	0.08|.	.|.	20.3248|20.3248	0.98698|0.98698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1481|.	Q86XA9-2|.	.|.	E|K	1481;1481;1194;1487|1115	ENSP00000374611:A1481E;ENSP00000405407:A1481E;ENSP00000408681:A1194E;ENSP00000437968:A1487E|.	ENSP00000374611:A1481E|.	A|Q	-|-	2|1	0|0	HEATR5A|HEATR5A	30848121|30848121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.768000|7.768000	0.85345|0.85345	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.368	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		42	159	1	0	3.68337e-26	0.00361	5.63462e-26	42	159				
AKAP6	9472	broad.mit.edu	37	14	33015542	33015542	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:33015542T>C	ENST00000280979.4	+	4	1853	c.1683T>C	c.(1681-1683)agT>agC	p.S561S	AKAP6_ENST00000557272.1_Silent_p.S561S|AKAP6_ENST00000557354.1_Silent_p.S561S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	561					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCAGAGAAGTTGGAATGCCA	0.458																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(1681-1683)AGT>AGC		A-kinase anchor protein 6							98.0	103.0	102.0					14																	33015542		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015542T>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1683T>C	14.37:g.33015542T>C						AKAP6_uc010aml.2_Silent_p.S558S	p.S561S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1853	+	Breast(36;0.0388)|Prostate(35;0.15)		561					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.1683T>C	CCDS9644.1																																																																																				0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		7	424	0	0	0	0.00308	0	7	424				
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:57684713T>G	ENST00000413566.2	-	15	1959	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	EXOC5_ENST00000340918.7_Missense_Mutation_p.T469P	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	534					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T536P(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAATGCCAGTATCCAATTTC	0.289																																							uc001xct.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1600-1602)ACT>CCT		SEC10 protein							83.0	86.0	85.0					14																	57684713		1797	4053	5850	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57684713T>G	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1600A>C	14.37:g.57684713T>G	ENSP00000389934:p.Thr534Pro					EXOC5_uc001xcs.2_Missense_Mutation_p.T213P|EXOC5_uc010trg.1_Missense_Mutation_p.T479P|EXOC5_uc010trh.1_Missense_Mutation_p.T469P	p.T534P	NM_006544	NP_006535	O00471	EXOC5_HUMAN			15	1851	-			534					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.1600A>C	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.899438	0.72754	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.48201	0.84;0.82	4.97	4.97	0.65823	.	0.047741	0.85682	D	0.000000	T	0.52741	0.1753	L	0.54323	1.7	0.58432	D	0.999995	P;P	0.43231	0.696;0.801	B;P	0.48598	0.2;0.583	T	0.51100	-0.8748	10	0.35671	T	0.21	-12.2346	14.9675	0.71204	0.0:0.0:0.0:1.0	.	469;534	F8W9B8;O00471	.;EXOC5_HUMAN	P	534;469	ENSP00000389934:T534P;ENSP00000342100:T469P	ENSP00000342100:T469P	T	-	1	0	EXOC5	56754466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.880000	0.63107	1.994000	0.58287	0.454000	0.30748	ACT		0.289	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		17	164	0	0	0	0.002299	0	17	164				
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:58036699C>A	ENST00000339762.6	-	6	1041		c.e6-1		SLC35F4_ENST00000554729.1_Splice_Site|SLC35F4_ENST00000556826.1_Splice_Site			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.?(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAACAAGACCTGGAATGAGA	0.433																																							uc001xdb.1		NA																	4	Unknown(4)		lung(4)	ovary(2)	2						c.e6-1		solute carrier family 35, member F4							38.0	42.0	41.0					14																	58036699		1893	4113	6006	SO:0001630	splice_region_variant	341880							g.chr14:58036699C>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1042-1G>T	14.37:g.58036699C>A						SLC35F4_uc010aoz.1_Splice_Site|SLC35F4_uc010apa.1_Splice_Site_p.V189_splice	p.V348_splice	NM_001080455	NP_001073924					6	1042	-								A6NDQ3	Splice_Site	SNP	ENST00000339762.6	37	c.1042_splice		.	.	.	.	.	.	.	.	.	.	C	23.9	4.467979	0.84533	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC35F4	57106452	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.764000	0.85297	2.861000	0.98227	0.650000	0.86243	.		0.433	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	Intron	5	36	1	0	0.00116845	0.001168	0.00123961	5	36				
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:63671738G>A	ENST00000316754.3	+	1	613	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RHOJ_ENST00000555125.1_Missense_Mutation_p.V51M|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	51					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V51M(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAGGAATACGTGCCCACTGT	0.557																																							uc001xgb.1		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)		0						c.(151-153)GTG>ATG		ras homolog gene family, member J precursor							110.0	89.0	96.0					14																	63671738		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671738G>A	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.151G>A	14.37:g.63671738G>A	ENSP00000316729:p.Val51Met						p.V51M	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	594	+			51			Effector region (Potential).		Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.151G>A	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672079	0.67928	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	T;T	0.77229	-1.08;-1.08	4.41	4.41	0.53225	Small GTP-binding protein domain (1);	0.082559	0.49916	D	0.000134	T	0.80476	0.4630	M	0.84585	2.705	0.80722	D	1	D	0.55385	0.971	B	0.40741	0.339	D	0.86285	0.1670	10	0.72032	D	0.01	.	17.5398	0.87844	0.0:0.0:1.0:0.0	.	51	Q9H4E5	RHOJ_HUMAN	M	51	ENSP00000316729:V51M;ENSP00000451643:V51M	ENSP00000316729:V51M	V	+	1	0	RHOJ	62741491	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.371000	0.66150	2.445000	0.82738	0.563000	0.77884	GTG		0.557	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			28	208	0	0	0	0.006999	0	28	208				
ESR2	2100	broad.mit.edu	37	14	64699947	64699947	+	Missense_Mutation	SNP	G	G	A	rs528840784		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:64699947G>A	ENST00000341099.4	-	9	1918	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ESR2_ENST00000353772.3_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.R410C|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000557772.1_3'UTR	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	501	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R501C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTGCACCCGCGAAGCACGTGG	0.562																																							uc001xha.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1501-1503)CGC>TGC		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						170.0	141.0	151.0					14																	64699947		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64699947G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1501C>T	14.37:g.64699947G>A	ENSP00000343925:p.Arg501Cys					ESR2_uc001xgu.2_Intron|ESR2_uc001xgv.2_Intron|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Intron|ESR2_uc001xgy.1_Intron|ESR2_uc001xgz.1_3'UTR|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R410C	p.R501C	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	9	1969	-			501			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.1501C>T	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607236	0.46527	.	.	ENSG00000140009	ENST00000341099;ENST00000267525	D;D	0.90004	-2.6;-2.36	5.57	2.46	0.29980	Nuclear hormone receptor, ligand-binding (1);	0.530462	0.20698	N	0.087336	T	0.79868	0.4520	N	0.14661	0.345	0.09310	N	1	D;D	0.60160	0.987;0.985	P;B	0.46825	0.528;0.308	T	0.72394	-0.4307	10	0.87932	D	0	.	6.1202	0.20150	0.073:0.2307:0.565:0.1312	.	410;501	Q92731-7;Q92731	.;ESR2_HUMAN	C	501;410	ENSP00000343925:R501C;ENSP00000267525:R410C	ENSP00000267525:R410C	R	-	1	0	ESR2	63769700	0.000000	0.05858	0.005000	0.12908	0.162000	0.22319	0.275000	0.18698	1.314000	0.45095	0.561000	0.74099	CGC		0.562	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			10	393	0	0	0	0.000978	0	10	393				
RAB15	376267	broad.mit.edu	37	14	65417768	65417768	+	Intron	SNP	C	C	T	rs200905960		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:65417768C>T	ENST00000533601.2	-	4	662				RAB15_ENST00000267512.5_Silent_p.P116P|RAB15_ENST00000436278.2_Silent_p.P70P|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Intron|CHURC1-FNTB_ENST00000549987.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.P116P(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CTCCACACCCCGGCAGTGAGG	0.562																																							uc001xhz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(346-348)CCG>CCA		RAB15, member RAS onocogene family							63.0	59.0	60.0					14																	65417768		2203	4300	6503	SO:0001627	intron_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417768C>T	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.324+23G>A	14.37:g.65417768C>T						FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	p.P116P	NM_198686	NP_941959	P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	4	429	-			Error:Variant_position_missing_in_P59190_after_alignment					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.348G>A																																																																																					0.562	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		3	54	0	0	0	0.004672	0	3	54				
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:66135974G>C	ENST00000360689.5	+	7	2338	c.611G>C	c.(610-612)tGc>tCc	p.C204S	FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Missense_Mutation_p.C41S|FUT8_ENST00000358307.2_Missense_Mutation_p.C75S|FUT8_ENST00000394585.1_Missense_Mutation_p.C204S|FUT8_ENST00000394586.2_Missense_Mutation_p.C204S|FUT8_ENST00000417683.1_5'Flank	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	204					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.C204S(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCAAGGACTGCAGCAAAGCC	0.408																																							uc001xin.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(610-612)TGC>TCC		fucosyltransferase 8 isoform a							93.0	84.0	87.0					14																	66135974		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66135974G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.611G>C	14.37:g.66135974G>C	ENSP00000353910:p.Cys204Ser					FUT8_uc001xio.2_Missense_Mutation_p.C204S|FUT8_uc010tsp.1_Missense_Mutation_p.C41S|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.C204S|FUT8_uc001xiq.2_Missense_Mutation_p.C75S|FUT8_uc001xis.2_5'Flank	p.C204S	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	7	1808	+			204			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.611G>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663752	0.88251	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.76575	0.954;0.988	T	0.77757	-0.2468	10	0.87932	D	0	-10.3959	17.6669	0.88205	0.0:0.0:1.0:0.0	.	75;204	G3XAD2;Q9BYC5	.;FUT8_HUMAN	S	204;204;41;204;75	ENSP00000353910:C204S;ENSP00000378087:C204S;ENSP00000452433:C41S;ENSP00000378086:C204S;ENSP00000351057:C75S	ENSP00000345865:C204S	C	+	2	0	FUT8	65205727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	TGC		0.408	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		24	81	0	0	0	0.00632	0	24	81				
FAM71D	161142	broad.mit.edu	37	14	67675062	67675062	+	3'UTR	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:67675062C>T	ENST00000556046.1	+	0	1597							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T352T(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CTACCTTGACCCCAGTAGAAA	0.383																																							uc001xja.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1054-1056)ACC>ACT		hypothetical protein LOC161142							101.0	92.0	95.0					14																	67675062		2203	4300	6503	SO:0001624	3_prime_UTR_variant	161142							g.chr14:67675062C>T		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*1112C>T	14.37:g.67675062C>T						FAM71D_uc010aqn.1_RNA	p.T352T	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)	6	1310	+		all_hematologic(31;0.0116)	352					Q86VN4	Silent	SNP	ENST00000556046.1	37	c.1056C>T		.	.	.	.	.	.	.	.	.	.	T	6.125	0.391346	0.11581	.	.	ENSG00000172717	ENST00000557671	.	.	.	4.41	-1.18	0.09617	.	.	.	.	.	T	0.19967	0.0480	.	.	.	.	.	.	.	.	.	.	.	.	T	0.26643	-1.0097	3	.	.	.	-3.4964	1.2418	0.01964	0.2905:0.0878:0.2992:0.3225	.	.	.	.	L	10	.	.	P	+	2	0	FAM71D	66744815	0.002000	0.14202	0.005000	0.12908	0.332000	0.28634	-0.420000	0.07062	-0.478000	0.06823	-0.254000	0.11334	CCC		0.383	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		36	174	0	0	0	0.006999	0	36	174				
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70490078G>T	ENST00000381280.4	+	11	1458	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	SMOC1_ENST00000361956.3_Missense_Mutation_p.R402L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	402	EF-hand 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.R402L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAATGTGCCCGGCGTTTCACC	0.527																																							uc001xls.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1204-1206)CGG>CTG		secreted modular calcium-binding protein 1							188.0	173.0	178.0					14																	70490078		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70490078G>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1205G>T	14.37:g.70490078G>T	ENSP00000370680:p.Arg402Leu					SMOC1_uc001xlt.1_Missense_Mutation_p.R402L	p.R402L	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	11	1458	+			402			EF-hand 2.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.1205G>T	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481584	0.84747	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.59772	0.24;0.25	5.34	4.45	0.53987	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	L	0.54323	1.7	0.80722	D	1	D;P	0.60575	0.988;0.895	D;P	0.65684	0.937;0.65	T	0.73222	-0.4051	10	0.72032	D	0.01	-19.9513	14.408	0.67096	0.0718:0.0:0.9282:0.0	.	402;402	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	L	402	ENSP00000355110:R402L;ENSP00000370680:R402L	ENSP00000355110:R402L	R	+	2	0	SMOC1	69559831	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.642000	0.74329	1.372000	0.46190	0.655000	0.94253	CGG		0.527	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			95	328	1	0	1.14165e-66	0.00361	2.11127e-66	95	328				
ADAM21P1	145241	broad.mit.edu	37	14	70714185	70714185	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70714185G>T	ENST00000530196.1	-	0	333					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CCAAACCGCAGACTATAGGAG	0.522																																							uc010ttg.1		NA																	0					0						c.(-319--315)GTCTG>GTATG		SubName: Full=ADAM21-like protein;																																						145241							g.chr14:70714185G>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714185G>T								NR_003951						1	334	-									Translation_Start_Site	SNP	ENST00000530196.1	37	c.-317C>A																																																																																					0.522	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		4	43	1	0	0.00116845	0.001168	0.00123961	4	43				
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70991190C>A	ENST00000256389.3	-	2	679	c.435G>T	c.(433-435)caG>caT	p.Q145H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	95					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q145H(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAGGGCATGCTGCTCTGTGT	0.522																																							uc001xme.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(433-435)CAG>CAT		ADAM metallopeptidase domain 20 preproprotein							167.0	106.0	127.0					14																	70991190		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991190C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.435G>T	14.37:g.70991190C>A	ENSP00000256389:p.Gln145His						p.Q145H	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	680	-			95					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.435G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422025	0.43020	.	.	ENSG00000134007	ENST00000256389	T	0.06068	3.35	4.14	3.23	0.37069	Peptidase M12B, propeptide (1);	0.527164	0.14515	N	0.314877	T	0.17238	0.0414	M	0.86343	2.81	0.09310	N	1	P	0.50819	0.939	P	0.52823	0.71	T	0.16778	-1.0391	10	0.87932	D	0	.	3.8158	0.08815	0.1647:0.5786:0.1604:0.0962	.	95	O43506	ADA20_HUMAN	H	145	ENSP00000256389:Q145H	ENSP00000256389:Q145H	Q	-	3	2	ADAM20	70060943	0.000000	0.05858	0.821000	0.32701	0.706000	0.40770	-0.024000	0.12435	1.050000	0.40346	0.650000	0.86243	CAG		0.522	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			84	461	1	0	5.70515e-31	0.00361	9.07446e-31	84	461				
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:80669342G>T	ENST00000557010.1	-	4	897	c.512C>A	c.(511-513)gCg>gAg	p.A171E	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A171E|DIO2_ENST00000555750.1_Missense_Mutation_p.A207E|DIO2_ENST00000557125.1_Silent_p.R46R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	171					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.A207E(2)|p.A171E(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCGGTATCGCCCAGCCATC	0.552											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010tvq.1		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(511-513)GCG>GAG		deiodinase, iodothyronine, type II isoform a							56.0	60.0	59.0					14																	80669342		2066	4201	6267	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669342G>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.512C>A	14.37:g.80669342G>T	ENSP00000451419:p.Ala171Glu		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_uc010tvp.1_Missense_Mutation_p.A207E|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.A171E|DIO2_uc010asy.2_3'UTR	p.A171E	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	914	-			171					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.512C>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747542	0.69533	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.34472	1.36;1.36;1.36	5.77	5.77	0.91146	.	0.287960	0.26052	N	0.026636	T	0.44685	0.1305	M	0.83223	2.63	0.80722	D	1	B;B;P	0.37781	0.025;0.031;0.608	B;B;B	0.30105	0.029;0.048;0.111	T	0.54931	-0.8219	10	0.72032	D	0.01	.	19.9785	0.97317	0.0:0.0:1.0:0.0	.	207;171;207	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	E	171;171;207	ENSP00000405854:A171E;ENSP00000451419:A171E;ENSP00000450980:A207E	ENSP00000405854:A171E	A	-	2	0	DIO2	79739095	1.000000	0.71417	0.983000	0.44433	0.879000	0.50718	4.996000	0.63914	2.724000	0.93272	0.650000	0.86243	GCG		0.552	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			23	128	1	0	3.73988e-18	0.00632	5.25921e-18	23	128				
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:88407816C>A	ENST00000261304.2	-	15	1863	c.1757G>T	c.(1756-1758)gGt>gTt	p.G586V	GALC_ENST00000544807.2_Missense_Mutation_p.G530V|GALC_ENST00000393568.4_Missense_Mutation_p.G563V|GALC_ENST00000393569.2_Missense_Mutation_p.G560V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	586					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.G586V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCAAAATACCACCTTTATT	0.358																																							uc001xvt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1756-1758)GGT>GTT		galactosylceramidase isoform a precursor							170.0	163.0	165.0					14																	88407816		1820	4070	5890	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88407816C>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1757G>T	14.37:g.88407816C>A	ENSP00000261304:p.Gly586Val					GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.G560V|GALC_uc010tvy.1_Missense_Mutation_p.G563V|GALC_uc010tvz.1_Missense_Mutation_p.G530V	p.G586V	NM_000153	NP_000144	P54803	GALC_HUMAN			15	2156	-			586					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1757G>T	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922581	0.92319	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.90252	3.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98156	1.0444	10	0.51188	T	0.08	-16.9059	19.907	0.97012	0.0:1.0:0.0:0.0	.	530;563;560;586	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	V	586;530;560;375;563	ENSP00000261304:G586V;ENSP00000437513:G530V;ENSP00000377199:G560V;ENSP00000377198:G563V	ENSP00000261304:G586V	G	-	2	0	GALC	87477569	1.000000	0.71417	0.951000	0.38953	0.983000	0.72400	7.762000	0.85270	2.718000	0.92993	0.585000	0.79938	GGT		0.358	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			40	442	1	0	1.23713e-20	0.00361	1.78623e-20	40	442				
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	C	A	rs201142813		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:91927780C>A	ENST00000554943.1	-	14	2451	c.2336G>T	c.(2335-2337)gGc>gTc	p.G779V	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.G540V|SMEK1_ENST00000337238.4_Missense_Mutation_p.G766V|SMEK1_ENST00000554684.1_Missense_Mutation_p.G766V|SMEK1_ENST00000428424.2_Missense_Mutation_p.G540V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	779					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.G779V(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGGAGAGCCTGGAGATCC	0.488																																							uc001xzn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2335-2337)GGC>GTC		SMEK homolog 1, suppressor of mek1							143.0	152.0	149.0					14																	91927780		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91927780C>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2336G>T	14.37:g.91927780C>A	ENSP00000450883:p.Gly779Val					SMEK1_uc001xzm.2_Missense_Mutation_p.G766V|SMEK1_uc001xzo.2_Missense_Mutation_p.G766V|SMEK1_uc010atz.2_Missense_Mutation_p.G540V	p.G779V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	14	3158	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	779					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.2336G>T		.	.	.	.	.	.	.	.	.	.	C	18.88	3.718015	0.68844	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462	T;T;T	0.44482	0.92;0.92;0.92	5.66	5.66	0.87406	.	0.045690	0.85682	D	0.000000	T	0.45337	0.1337	L	0.29908	0.895	0.80722	D	1	P;B;B	0.50272	0.933;0.392;0.068	P;B;B	0.51324	0.666;0.127;0.197	T	0.13124	-1.0521	10	0.27785	T	0.31	-6.2687	19.7503	0.96265	0.0:1.0:0.0:0.0	.	540;779;766	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	V	766;766;540;779;540	ENSP00000450864:G766V;ENSP00000337125:G766V;ENSP00000450883:G779V	ENSP00000337125:G766V	G	-	2	0	SMEK1	90997533	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.380000	0.79704	2.675000	0.91044	0.557000	0.71058	GGC		0.488	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		50	351	1	0	2.41709e-19	0.00361	3.43481e-19	50	351				
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358																																							uc001ycs.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|upper_aerodigestive_tract(1)	4						c.(2260-2262)CCC>CCT		HEAT-like repeat-containing protein isoform 1							140.0	148.0	145.0					14																	94731788		2203	4300	6503	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94731788C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2262C>T	14.37:g.94731788C>T							p.P754P	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			21	2416	+			754					Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.2262C>T	CCDS9921.1																																																																																				0.358	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		19	161	0	0	0	0.00278	0	19	161				
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94914953G>T	ENST00000334708.3	-	2	223	c.159C>A	c.(157-159)acC>acA	p.T53T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T235T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATTGGTAATGGTGGGTGTGA	0.572																																							uc001ydd.1		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(157-159)ACC>ACA		serpin peptidase inhibitor, clade A (alpha-1							125.0	136.0	133.0					14																	94914953		2203	4300	6503	SO:0001819	synonymous_variant	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914953G>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.159C>A	14.37:g.94914953G>T							p.T53T	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	219	-			53					B2RV07	Silent	SNP	ENST00000334708.3	37	c.159C>A	CCDS32149.1																																																																																				0.572	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		135	509	1	0	1.12709e-80	0.00361	2.12436e-80	135	509				
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94936027A>T	ENST00000380365.3	-	2	229	c.151T>A	c.(151-153)Ttt>Att	p.F51I	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.F69I|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F69I|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	51					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F69I(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CGGAAGGCAAAGTCGGTGTTG	0.582																																							uc001ydf.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(1)|central_nervous_system(1)	2						c.(205-207)TTT>ATT		serine (or cysteine) proteinase inhibitor, clade							78.0	83.0	81.0					14																	94936027		2067	4209	6276	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936027A>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.151T>A	14.37:g.94936027A>T	ENSP00000369723:p.Phe51Ile					SERPINA9_uc001yde.2_Missense_Mutation_p.F69I|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.F69I|SERPINA9_uc001ydi.1_Intron	p.F69I	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	366	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	51					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.205T>A		.	.	.	.	.	.	.	.	.	.	A	11.96	1.793743	0.31685	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.93307	-3.2;-3.2;-3.2	3.99	3.99	0.46301	Serpin domain (2);	0.000000	0.64402	U	0.000018	D	0.97455	0.9167	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97636	1.0145	10	0.22706	T	0.39	.	13.1922	0.59717	1.0:0.0:0.0:0.0	.	51;69;69	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	I	69;69;51	ENSP00000298845:F69I;ENSP00000337133:F69I;ENSP00000369723:F51I	ENSP00000298845:F69I	F	-	1	0	SERPINA9	94005780	1.000000	0.71417	0.672000	0.29872	0.744000	0.42396	6.406000	0.73276	1.586000	0.49944	0.260000	0.18958	TTT		0.582	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		144	385	0	0	0	0.00361	0	144	385				
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94936140C>G	ENST00000380365.3	-	2	116	c.38G>C	c.(37-39)gGc>gCc	p.G13A	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.G31A|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G31A|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	13					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G31A(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCACAGAGGCCAACAGCAAA	0.517																																							uc001ydf.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(1)|central_nervous_system(1)	2						c.(91-93)GGC>GCC		serine (or cysteine) proteinase inhibitor, clade							91.0	90.0	90.0					14																	94936140		1999	4169	6168	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936140C>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.38G>C	14.37:g.94936140C>G	ENSP00000369723:p.Gly13Ala					SERPINA9_uc001yde.2_Missense_Mutation_p.G31A|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.G31A|SERPINA9_uc001ydi.1_Intron	p.G31A	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	253	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	13					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.92G>C		.	.	.	.	.	.	.	.	.	.	C	9.409	1.080126	0.20309	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.87029	-2.2;-2.2;-2.2	3.81	2.89	0.33648	Serpin domain (1);	0.679532	0.12400	U	0.472181	T	0.81541	0.4844	N	0.08118	0	0.33279	D	0.56203	P;P;P	0.45957	0.866;0.84;0.869	B;P;B	0.55055	0.391;0.767;0.283	T	0.77835	-0.2440	10	0.20519	T	0.43	.	9.8189	0.40869	0.2065:0.7935:0.0:0.0	.	13;31;31	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	A	31;31;13	ENSP00000298845:G31A;ENSP00000337133:G31A;ENSP00000369723:G13A	ENSP00000298845:G31A	G	-	2	0	SERPINA9	94005893	0.000000	0.05858	0.535000	0.28026	0.523000	0.34469	0.098000	0.15189	0.693000	0.31634	0.313000	0.20887	GGC		0.517	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		183	630	0	0	0	0.00361	0	183	630				
DICER1	23405	broad.mit.edu	37	14	95573945	95573945	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:95573945C>T	ENST00000526495.1	-	19	3095	c.2804G>A	c.(2803-2805)aGa>aAa	p.R935K	DICER1_ENST00000527414.1_Splice_Site_p.R935K|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000541352.1_Splice_Site_p.R935K|DICER1_ENST00000393063.1_Splice_Site_p.R935K|DICER1_ENST00000343455.3_Splice_Site_p.R935K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	935	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.R935K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATACCTACCTTGGAATGAT	0.418			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(2803-2805)AGA>AAA		dicer1							99.0	104.0	102.0					14																	95573945		2203	4299	6502	SO:0001630	splice_region_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95573945C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2804+1G>A	14.37:g.95573945C>T						DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.R925K|DICER1_uc001ydx.2_Missense_Mutation_p.R935K	p.R935K	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	18	2986	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	935			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2804G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381964	0.61845	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.67	5.67	0.87782	Argonaute/Dicer protein, PAZ (4);	0.041302	0.85682	N	0.000000	T	0.22205	0.0535	N	0.11845	0.185	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.14337	-1.0476	9	.	.	.	-22.4282	20.1275	0.97990	0.0:1.0:0.0:0.0	.	935	Q9UPY3	DICER_HUMAN	K	935	ENSP00000343745:R935K;ENSP00000437256:R935K;ENSP00000376783:R935K;ENSP00000435681:R935K;ENSP00000444719:R935K	.	R	-	2	0	DICER1	94643698	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.595000	0.82710	2.824000	0.97209	0.650000	0.86243	AGA		0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Missense_Mutation	6	153	0	0	0	0.001984	0	6	153				
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:102476788G>T	ENST00000360184.4	+	31	6561	c.6397G>T	c.(6397-6399)Gaa>Taa	p.E2133*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2133					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.E2133*(2)		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						AAATCTCCCTGAACAAGAGGT	0.388																																							uc001yks.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(6397-6399)GAA>TAA		cytoplasmic dynein 1 heavy chain 1							78.0	83.0	82.0					14																	102476788		2203	4300	6503	SO:0001587	stop_gained	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.chr14:102476788G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6397G>T	14.37:g.102476788G>T	ENSP00000348965:p.Glu2133*						p.E2133*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			31	6561	+			2133					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.6397G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	48	14.872220	0.99813	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.61	4.71	0.59529	.	0.096027	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5166	0.84302	0.0:0.1309:0.8691:0.0	.	.	.	.	X	2133	.	ENSP00000348965:E2133X	E	+	1	0	DYNC1H1	101546541	1.000000	0.71417	0.586000	0.28679	0.989000	0.77384	9.801000	0.99128	1.353000	0.45828	0.650000	0.86243	GAA		0.388	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		28	50	1	0	9.17885e-22	0.003271	1.34873e-21	28	50				
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105407714C>T	ENST00000333244.5	-	7	14193	c.14074G>A	c.(14074-14076)Gaa>Aaa	p.E4692K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E4692K(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTCCAACTTCTCCAACAGCA	0.413																																							uc010axc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(14074-14076)GAA>AAA		AHNAK nucleoprotein 2							50.0	53.0	52.0					14																	105407714		1889	4107	5996	SO:0001583	missense	113146					nucleus		g.chr14:105407714C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14074G>A	14.37:g.105407714C>T	ENSP00000353114:p.Glu4692Lys					AHNAK2_uc001ypx.2_Missense_Mutation_p.E4592K	p.E4692K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14194	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4692					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14074G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660099	0.03454	.	.	ENSG00000185567	ENST00000333244	T	0.01043	5.41	2.49	-1.65	0.08291	.	.	.	.	.	T	0.00440	0.0014	N	0.01048	-1.04	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.44003	-0.9356	9	0.06099	T	0.92	.	7.9385	0.29944	0.0:0.466:0.0:0.534	.	4692	Q8IVF2	AHNK2_HUMAN	K	4692	ENSP00000353114:E4692K	ENSP00000353114:E4692K	E	-	1	0	AHNAK2	104478759	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.438000	0.06905	-0.299000	0.08909	0.196000	0.17591	GAA		0.413	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	16	0	0	0	0.000602	0	4	16				
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105518393G>T	ENST00000329797.3	-	4	992	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.G27G|GPR132_ENST00000392585.2_Silent_p.G18G	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G27G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGGCGGAGAGGCCCAGGGAGG	0.637																																							uc001yqd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(79-81)GGC>GGA		G protein-coupled receptor 132							56.0	63.0	61.0					14																	105518393		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518393G>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.81C>A	14.37:g.105518393G>T						GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Silent_p.G18G	p.G27G	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	980	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	27			Extracellular (Potential).		A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.81C>A	CCDS9997.1																																																																																				0.637	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		11	22	1	0	3.27435e-08	0.00245	3.83963e-08	11	22				
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T	rs587778144		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:40468681C>T	ENST00000287598.6	+	5	583	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.R144C	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	130	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R130C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														uc001zkx.3		NA	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			2	Substitution - Missense(2)		lung(2)	stomach(2)|ovary(1)|kidney(1)	4						c.(388-390)CGT>TGT		budding uninhibited by benzimidazoles 1 beta							129.0	108.0	115.0					15																	40468681		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40468681C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.388C>T	15.37:g.40468681C>T	ENSP00000287598:p.Arg130Cys					BUB1B_uc010ucl.1_5'UTR	p.R130C	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	5	600	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	130			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.388C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215609	0.39102	.	.	ENSG00000156970	ENST00000287598;ENST00000412359	T;T	0.64438	-0.1;-0.1	5.43	4.49	0.54785	Mad3/BUB1 homology region 1 (3);	0.382312	0.28459	N	0.015262	T	0.58047	0.2095	L	0.61036	1.89	0.32856	D	0.507309	B	0.16396	0.017	B	0.10450	0.005	T	0.65829	-0.6073	10	0.66056	D	0.02	-6.8422	10.2098	0.43134	0.3356:0.5451:0.1193:0.0	.	130	O60566	BUB1B_HUMAN	C	130;144	ENSP00000287598:R130C;ENSP00000398470:R144C	ENSP00000287598:R130C	R	+	1	0	BUB1B	38255973	0.464000	0.25807	1.000000	0.80357	0.970000	0.65996	0.814000	0.27239	1.250000	0.43966	0.655000	0.94253	CGT		0.398	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			77	169	0	0	0	0.00361	0	77	169				
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:43585794T>A	ENST00000452443.2	-	2	50	c.46A>T	c.(46-48)Agc>Tgc	p.S16C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S16C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCTGGAGCTCTGCAGGTCG	0.652																																							uc001zrf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(46-48)AGC>TGC		transglutaminase 7	L-Glutamine(DB00130)						61.0	63.0	62.0					15																	43585794		2201	4295	6496	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43585794T>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.46A>T	15.37:g.43585794T>A	ENSP00000389466:p.Ser16Cys						p.S16C	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	2	51	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	16						Missense_Mutation	SNP	ENST00000452443.2	37	c.46A>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	t	12.96	2.095060	0.36952	.	.	ENSG00000159495	ENST00000452443	D	0.84873	-1.91	5.07	3.86	0.44501	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.479145	0.24024	N	0.042243	D	0.84261	0.5433	L	0.28776	0.89	0.19775	N	0.99996	D	0.69078	0.997	D	0.64237	0.923	T	0.73874	-0.3845	10	0.45353	T	0.12	-4.9483	7.7025	0.28632	0.1874:0.0:0.0:0.8126	.	16	Q96PF1	TGM7_HUMAN	C	16	ENSP00000389466:S16C	ENSP00000389466:S16C	S	-	1	0	TGM7	41373086	0.002000	0.14202	0.853000	0.33588	0.134000	0.20937	0.238000	0.18004	2.049000	0.60858	0.373000	0.22412	AGC		0.652	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		3	12	0	0	0	0.004672	0	3	12				
CKMT1B	1159	broad.mit.edu	37	15	43890471	43890471	+	Silent	SNP	C	C	T	rs557191692	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:43890471C>T	ENST00000441322.1	+	7	1317	c.957C>T	c.(955-957)aaC>aaT	p.N319N	CKMT1B_ENST00000300283.6_Silent_p.N319N			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	319	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.N319N(2)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCCATCTAACCTGGGCACTG	0.512													C|||	36	0.0071885	0.0	0.0	5008	,	,		20333	0.0357		0.0	False		,,,				2504	0.0						uc001zsc.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(955-957)AAC>AAT		creatine kinase, mitochondrial 1B precursor	Creatine(DB00148)						120.0	124.0	123.0					15																	43890471		2151	4278	6429	SO:0001819	synonymous_variant	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43890471C>T	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.957C>T	15.37:g.43890471C>T						CKMT1B_uc010uds.1_Silent_p.N350N|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc001zsd.3_Silent_p.N319N|CKMT1B_uc010bdj.2_RNA|CKMT1B_uc010udy.1_RNA	p.N319N	NM_020990	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	8	1349	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	319			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Silent	SNP	ENST00000441322.1	37	c.957C>T	CCDS10097.1																																																																																				0.512	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		50	179	0	0	0	0.00361	0	50	179				
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:45444142C>A	ENST00000321429.4	+	25	3492	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q675K|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1029K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1029	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.Q1029K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGTCTCCACCAGACGGTGCA	0.587																																							uc001zus.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(2)|breast(1)	8						c.(3085-3087)CAG>AAG		dual oxidase 1 precursor							73.0	70.0	71.0					15																	45444142		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45444142C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3085C>A	15.37:g.45444142C>A	ENSP00000317997:p.Gln1029Lys					DUOX1_uc001zut.1_Missense_Mutation_p.Q1029K|DUOX1_uc010bee.1_Missense_Mutation_p.Q409K|DUOX1_uc001zuu.2_Missense_Mutation_p.Q171K	p.Q1029K	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	25	3431	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1029			Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3085C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113985	0.56398	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85171	-1.95;-1.95	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.67397	2.05	0.80722	D	1	D;B	0.69078	0.997;0.365	D;B	0.63597	0.916;0.14	D	0.85197	0.1013	10	0.06891	T	0.86	-27.2802	14.3394	0.66614	0.0:1.0:0.0:0.0	.	162;1029	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	K	1029	ENSP00000317997:Q1029K;ENSP00000373689:Q1029K	ENSP00000317997:Q1029K	Q	+	1	0	DUOX1	43231434	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.540000	0.82074	2.302000	0.77476	0.655000	0.94253	CAG		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		15	51	1	0	1.15088e-07	0.004007	1.33507e-07	15	51				
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:48500307C>A	ENST00000558405.1	+	1	405	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	SLC12A1_ENST00000330289.6_Missense_Mutation_p.L131M|SLC12A1_ENST00000396577.3_Missense_Mutation_p.L131M|SLC12A1_ENST00000561031.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L131M			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	131					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.L131M(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGACCCAGCCTGCTTGAGAT	0.468																																							uc001zwn.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(391-393)CTG>ATG		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						77.0	75.0	76.0					15																	48500307		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500307C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.391C>A	15.37:g.48500307C>A	ENSP00000453409:p.Leu131Met					SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.L131M|SLC12A1_uc010uex.1_Missense_Mutation_p.L131M	p.L131M	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	607	+		all_lung(180;0.00219)	131			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.391C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428302	0.62844	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.99499	-6.02;-6.02;-6.02	5.28	2.25	0.28309	Amino acid permease, N-terminal (1);	0.079082	0.53938	D	0.000055	D	0.99333	0.9766	M	0.84326	2.69	0.51012	D	0.999907	B;D	0.89917	0.438;1.0	P;D	0.97110	0.626;1.0	D	0.99755	1.1019	10	0.87932	D	0	.	7.7143	0.28696	0.1286:0.6712:0.0:0.2002	.	131;131	Q8IUN5;Q13621	.;S12A1_HUMAN	M	131	ENSP00000370381:L131M;ENSP00000379822:L131M;ENSP00000331550:L131M	ENSP00000331550:L131M	L	+	1	2	SLC12A1	46287599	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.515000	0.45512	0.675000	0.31264	0.655000	0.94253	CTG		0.468	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			115	168	1	0	1.24568e-56	0.00361	2.22369e-56	115	168				
SLC27A2	11001	broad.mit.edu	37	15	50494839	50494839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:50494839G>T	ENST00000267842.5	+	3	1076	c.844G>T	c.(844-846)Gct>Tct	p.A282S	SLC27A2_ENST00000544960.1_Missense_Mutation_p.A47S|SLC27A2_ENST00000380902.4_Intron	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	282					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A282S(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGTATTGTGGCTGGTAAGCT	0.428																																							uc001zxw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(844-846)GCT>TCT		solute carrier family 27 (fatty acid							176.0	152.0	160.0					15																	50494839		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50494839G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.844G>T	15.37:g.50494839G>T	ENSP00000267842:p.Ala282Ser					SLC27A2_uc010bes.2_Intron|SLC27A2_uc001zxx.2_Missense_Mutation_p.A47S	p.A282S	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	3	1076	+		all_lung(180;0.00177)	282			Helical; (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.844G>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140359	0.37825	.	.	ENSG00000140284	ENST00000267842;ENST00000544960	T;T	0.41065	1.01;1.01	5.64	-5.02	0.02982	AMP-dependent synthetase/ligase (1);	1.226200	0.05581	N	0.572814	T	0.23611	0.0571	N	0.11154	0.105	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.27640	-1.0068	10	0.21540	T	0.41	-11.3092	13.3754	0.60736	0.425:0.0:0.575:0.0	.	282	O14975	S27A2_HUMAN	S	282;47	ENSP00000267842:A282S;ENSP00000444549:A47S	ENSP00000267842:A282S	A	+	1	0	SLC27A2	48282131	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.294000	0.02767	-1.297000	0.02351	-0.312000	0.09012	GCT		0.428	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		22	439	1	0	5.61819e-17	0.005443	7.75913e-17	22	439				
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:54307745T>A	ENST00000260323.11	+	1	2645	c.2645T>A	c.(2644-2646)aTg>aAg	p.M882K	UNC13C_ENST00000545554.1_Missense_Mutation_p.M882K|UNC13C_ENST00000537900.1_Missense_Mutation_p.M882K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	882					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.M882K(4)		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)		GTTGAAGTCATGGAACAAGTC	0.378																																							uc002ack.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|pancreas(2)	7						c.(2644-2646)ATG>AAG		unc-13 homolog C							82.0	82.0	82.0					15																	54307745		1936	4132	6068	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307745T>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.2645T>A	15.37:g.54307745T>A	ENSP00000260323:p.Met882Lys						p.M882K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2645	+			882					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2645T>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372800	0.42003	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83250	-1.7;-1.69;-1.7	5.69	5.69	0.88448	.	.	.	.	.	T	0.76271	0.3964	L	0.29908	0.895	0.53688	D	0.999978	P	0.39391	0.671	B	0.37943	0.261	T	0.79596	-0.1738	9	0.72032	D	0.01	.	15.1202	0.72438	0.0:0.0:0.0:1.0	.	882	Q8NB66	UN13C_HUMAN	K	882	ENSP00000260323:M882K;ENSP00000438156:M882K;ENSP00000442569:M882K	ENSP00000260323:M882K	M	+	2	0	UNC13C	52095037	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.694000	0.84235	2.165000	0.68154	0.528000	0.53228	ATG		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		96	198	0	0	0	0.00361	0	96	198				
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:56140724T>C	ENST00000508342.1	-	12	3034	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	NEDD4_ENST00000435532.3_Missense_Mutation_p.N493S|NEDD4_ENST00000338963.2_Missense_Mutation_p.N840S|NEDD4_ENST00000506154.1_Missense_Mutation_p.N896S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	912	Mediates interaction with TNIK. {ECO:0000250}.|WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.N493S(2)|p.N840S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATACTGTGATTTATGTAGAA	0.308																																							uc002adj.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|ovary(1)|breast(1)	4						c.(2734-2736)AAT>AGT		neural precursor cell expressed, developmentally							78.0	81.0	80.0					15																	56140724		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56140724T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2735A>G	15.37:g.56140724T>C	ENSP00000424827:p.Asn912Ser					NEDD4_uc002adl.2_Missense_Mutation_p.N493S|NEDD4_uc002adi.2_Missense_Mutation_p.N840S|NEDD4_uc010ugj.1_Missense_Mutation_p.N896S|NEDD4_uc010bfm.2_Missense_Mutation_p.N895S|NEDD4_uc002adk.2_RNA	p.N912S	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	12	3035	-			912			WW 4.|Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2735A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.30|19.30	3.801214|3.801214	0.70567|0.70567	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|D;D;D;D	.|0.92149	.|-2.98;-2.98;-2.98;-2.98	5.83|5.83	5.83|5.83	0.93111|0.93111	.|WW/Rsp5/WWP (6);	.|0.207171	.|0.50627	.|D	.|0.000120	D|D	0.95274|0.95274	0.8467|0.8467	M|M	0.85777|0.85777	2.775|2.775	0.31613|0.31613	N|N	0.651262|0.651262	.|P;B;P;B	.|0.52316	.|0.952;0.185;0.766;0.33	.|B;B;P;B	.|0.54664	.|0.419;0.281;0.758;0.306	D|D	0.96053|0.96053	0.9033|0.9033	5|10	.|0.87932	.|D	.|0	.|.	15.3779|15.3779	0.74625|0.74625	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|896;493;912;840	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|S	503|912;493;840;896	.|ENSP00000424827:N912S;ENSP00000410613:N493S;ENSP00000345530:N840S;ENSP00000422705:N896S	.|ENSP00000345530:N840S	I|N	-|-	1|2	0|0	NEDD4|NEDD4	53928016|53928016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	7.936000|7.936000	0.87665|0.87665	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.308	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		21	63	0	0	0	0.00632	0	21	63				
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:59961504T>A	ENST00000607373.1	-	8	967	c.765A>T	c.(763-765)acA>acT	p.T255T	BNIP2_ENST00000267859.3_Silent_p.T376T|BNIP2_ENST00000478981.1_5'Flank|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Silent_p.T317T	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	255	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)	p.T255T(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAGCCAGAAGTGTTCTGATAA	0.264																																					Ovarian(174;1936 1978 6671 8240 38212)	Ovarian(174;1936 1978 6671 8240 38212)	uc010uhc.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1126-1128)ACA>ACT		BCL2/adenovirus E1B 19kD interacting protein 2							53.0	56.0	55.0					15																	59961504		2190	4280	6470	SO:0001819	synonymous_variant	663				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	g.chr15:59961504T>A	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.765A>T	15.37:g.59961504T>A						BNIP2_uc002agi.3_5'Flank|BNIP2_uc010uhb.1_Silent_p.T317T	p.T376T	NM_004330	NP_004321	Q12982	BNIP2_HUMAN			8	1131	-			255			CRAL-TRIO.		B4DS94	Silent	SNP	ENST00000607373.1	37	c.1128A>T																																																																																					0.264	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330		16	51	0	0	0	0.00278	0	16	51				
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:62264919T>C	ENST00000261517.5	-	27	2735	c.2662A>G	c.(2662-2664)Act>Gct	p.T888A	VPS13C_ENST00000395898.3_Missense_Mutation_p.T845A|VPS13C_ENST00000249837.3_Missense_Mutation_p.T845A|VPS13C_ENST00000395896.4_Missense_Mutation_p.T888A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.T888A(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTACAAGTCTGTGGTTCT	0.348																																							uc002agz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(2662-2664)ACT>GCT		vacuolar protein sorting 13C protein isoform 2A							131.0	130.0	130.0					15																	62264919		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62264919T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2662A>G	15.37:g.62264919T>C	ENSP00000261517:p.Thr888Ala					VPS13C_uc002aha.2_Missense_Mutation_p.T845A|VPS13C_uc002ahb.1_Missense_Mutation_p.T888A|VPS13C_uc002ahc.1_Missense_Mutation_p.T845A	p.T888A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			27	2736	-			888						Missense_Mutation	SNP	ENST00000261517.5	37	c.2662A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	2.462	-0.323818	0.05350	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16324	2.35;2.35;2.35	5.29	-2.77	0.05877	.	1.493360	0.03740	N	0.254826	T	0.05547	0.0146	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.26224	-1.0109	10	0.06757	T	0.87	.	2.67	0.05064	0.1052:0.3509:0.215:0.3289	.	845;888;845;888	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	A	845;888;888;888	ENSP00000249837:T845A;ENSP00000261517:T888A;ENSP00000379233:T888A	ENSP00000249837:T845A	T	-	1	0	VPS13C	60052211	0.000000	0.05858	0.004000	0.12327	0.590000	0.36582	-0.434000	0.06939	-0.421000	0.07416	0.482000	0.46254	ACT		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		48	164	0	0	0	0.00361	0	48	164				
REC114	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:73852136C>A	ENST00000331090.6	+	6	708	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.S199Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		227					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.S227Y(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATGAACAATCTGCATGGGGT	0.463																																							uc002avq.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(679-681)TCT>TAT		hypothetical protein LOC283677							88.0	86.0	87.0					15																	73852136		1849	4086	5935	SO:0001583	missense	283677							g.chr15:73852136C>A																												ENST00000331090.6:c.680C>A	15.37:g.73852136C>A	ENSP00000328423:p.Ser227Tyr					C15orf60_uc010bjb.2_Missense_Mutation_p.S199Y	p.S227Y	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			6	708	+			227						Missense_Mutation	SNP	ENST00000331090.6	37	c.680C>A	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921368	0.52653	.	.	ENSG00000183324	ENST00000331090	T	0.53640	0.61	6.02	5.09	0.68999	.	0.338871	0.30401	N	0.009716	T	0.64427	0.2597	L	0.59436	1.845	0.20196	N	0.999925	D	0.71674	0.998	D	0.65443	0.935	T	0.61153	-0.7120	10	0.62326	D	0.03	-6.421	16.582	0.84717	0.0:0.87:0.13:0.0	.	227	Q7Z4M0	CO060_HUMAN	Y	227	ENSP00000328423:S227Y	ENSP00000328423:S227Y	S	+	2	0	C15orf60	71639189	0.015000	0.18098	0.012000	0.15200	0.936000	0.57629	2.349000	0.44054	1.524000	0.49035	0.650000	0.86243	TCT		0.463	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			38	101	1	0	5.75399e-11	0.00361	7.15111e-11	38	101				
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:74467708C>T	ENST00000249842.3	+	2	866	c.509C>T	c.(508-510)aCc>aTc	p.T170I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.T170I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	170					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.T170I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCCCGCTCACCGCGCTGTCC	0.657																																							uc002axg.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(508-510)ACC>ATC		immunoglobulin superfamily containing							65.0	60.0	62.0					15																	74467708		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467708C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.509C>T	15.37:g.74467708C>T	ENSP00000249842:p.Thr170Ile					ISLR_uc002axh.1_Missense_Mutation_p.T170I	p.T170I	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	791	+			170						Missense_Mutation	SNP	ENST00000249842.3	37	c.509C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	2.204	-0.382182	0.04966	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.57595	0.39;0.39	4.05	3.13	0.36017	.	0.243193	0.27262	U	0.020171	T	0.50292	0.1607	M	0.78637	2.42	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.46148	-0.9212	10	0.39692	T	0.17	.	8.257	0.31763	0.0:0.8148:0.0:0.1852	.	170	O14498	ISLR_HUMAN	I	170	ENSP00000249842:T170I;ENSP00000378550:T170I	ENSP00000249842:T170I	T	+	2	0	ISLR	72254761	0.000000	0.05858	0.454000	0.27019	0.111000	0.19643	0.197000	0.17197	0.699000	0.31761	0.313000	0.20887	ACC		0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		15	29	0	0	0	0.008871	0	15	29				
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	C	T	rs150018240		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:75650895C>T	ENST00000267978.5	-	20	2357	c.2311G>A	c.(2311-2313)Gcc>Acc	p.A771T	RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A771T|MAN2C1_ENST00000565683.1_Missense_Mutation_p.A788T|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A672T	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.A771T(2)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAACCAGGCGCTGCCCCGC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18560	0.001		0.0	False		,,,				2504	0.0						uc002baf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2311-2313)GCC>ACC		mannosidase, alpha, class 2C, member 1							46.0	50.0	49.0					15																	75650895		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75650895C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2311G>A	15.37:g.75650895C>T	ENSP00000267978:p.Ala771Thr					MAN2C1_uc002bag.2_Missense_Mutation_p.A771T|MAN2C1_uc002bah.2_Missense_Mutation_p.A788T|MAN2C1_uc010bkk.2_Missense_Mutation_p.A672T	p.A771T	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			20	2328	-			771					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.2311G>A	CCDS32298.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	10.28	1.307488	0.23821	.	.	ENSG00000140400	ENST00000267978	T	0.18174	2.23	5.72	3.83	0.44106	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.287879	0.38381	N	0.001707	T	0.09555	0.0235	N	0.16790	0.44	0.37137	D	0.901555	B;B	0.24721	0.11;0.11	B;B	0.17098	0.017;0.017	T	0.17319	-1.0373	10	0.42905	T	0.14	-21.3941	7.0973	0.25317	0.1417:0.7085:0.0:0.1498	.	771;771	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	T	771	ENSP00000267978:A771T	ENSP00000267978:A771T	A	-	1	0	MAN2C1	73437948	0.949000	0.32298	0.980000	0.43619	0.030000	0.12068	2.129000	0.42055	0.756000	0.33013	-0.314000	0.08810	GCC		0.647	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			8	14	0	0	0	0.006214	0	8	14				
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:83215961G>A	ENST00000562019.1	-	10	1757	c.1441C>T	c.(1441-1443)Caa>Taa	p.Q481*	CPEB1_ENST00000568128.1_Nonsense_Mutation_p.Q476*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000563800.1_Nonsense_Mutation_p.Q503*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.Q479*|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.Q406*|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.Q401*|RP11-152F13.10_ENST00000562833.1_Silent_p.T210T|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.Q250*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.Q401*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	481	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.Q406*(2)|p.Q476*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAACTCCGTTGGTTATTGAAA	0.413																																							uc002bit.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(1)|breast(1)	2						c.(1621-1623)CAA>TAA		cytoplasmic polyadenylation element binding							77.0	74.0	75.0					15																	83215961		1906	4136	6042	SO:0001587	stop_gained	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83215961G>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1441C>T	15.37:g.83215961G>A	ENSP00000457836:p.Gln481*					CPEB1_uc002biq.2_Nonsense_Mutation_p.Q401*|CPEB1_uc002bir.2_Nonsense_Mutation_p.Q406*|CPEB1_uc002bis.2_Nonsense_Mutation_p.Q401*|CPEB1_uc010uod.1_Nonsense_Mutation_p.Q250*|CPEB1_uc010uoe.1_Nonsense_Mutation_p.Q479*|CPEB1_uc002biu.2_Nonsense_Mutation_p.Q503*|CPEB1_uc010uof.1_Nonsense_Mutation_p.Q401*|CPEB1_uc002biv.2_Nonsense_Mutation_p.Q476*|CPEB1_uc002bip.2_Nonsense_Mutation_p.Q250*	p.Q541*	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		10	1758	-			481			RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Nonsense_Mutation	SNP	ENST00000562019.1	37	c.1621C>T		.	.	.	.	.	.	.	.	.	.	g	38	7.061436	0.98036	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.6435	19.0468	0.93022	0.0:0.0:1.0:0.0	.	.	.	.	X	476;476;401;406;479;250	.	ENSP00000261723:Q479X	Q	-	1	0	CPEB1	81013016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.518000	0.98022	2.569000	0.86673	0.591000	0.81541	CAA		0.413	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		25	92	0	0	0	0.007291	0	25	92				
SH3GL3	6457	broad.mit.edu	37	15	84237364	84237364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:84237364G>A	ENST00000427482.2	+	4	577	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	SH3GL3_ENST00000434347.1_Missense_Mutation_p.G99S|SH3GL3_ENST00000324537.5_Missense_Mutation_p.G99S|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G91S	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	91	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.G99S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCAGACGGAAGGCTTGCTGGG	0.517																																							uc002bjw.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(271-273)GGC>AGC		SH3-domain GRB2-like 3							84.0	85.0	85.0					15																	84237364		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84237364G>A	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.271G>A	15.37:g.84237364G>A	ENSP00000391372:p.Gly91Ser					SH3GL3_uc010uot.1_Missense_Mutation_p.G91S|SH3GL3_uc002bjx.2_Missense_Mutation_p.G22S|SH3GL3_uc002bju.2_Missense_Mutation_p.G99S|SH3GL3_uc002bjv.2_RNA	p.G91S	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			4	466	+			91			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.271G>A	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365073	0.82463	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.86	3.95	0.45737	BAR (3);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.79805	2.47	0.80722	D	1	D;P;P	0.89917	1.0;0.75;0.874	D;P;P	0.71870	0.975;0.77;0.742	T	0.79662	-0.1710	10	0.52906	T	0.07	-40.6955	12.7223	0.57149	0.0803:0.0:0.9197:0.0	.	91;91;99	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	S	91;91;99;99	ENSP00000391372:G91S;ENSP00000439239:G91S;ENSP00000320092:G99S;ENSP00000397871:G99S	ENSP00000320092:G99S	G	+	1	0	SH3GL3	82028368	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	7.431000	0.80335	1.171000	0.42768	0.544000	0.68410	GGC		0.517	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		14	171	0	0	0	0.00499	0	14	171				
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	G	T	rs559656402		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:84237394G>T	ENST00000427482.2	+	4	607	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	SH3GL3_ENST00000434347.1_Missense_Mutation_p.G109W|SH3GL3_ENST00000324537.5_Missense_Mutation_p.G109W|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G101W	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.G109W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTGAAATACGGGAAGGAGCT	0.527																																							uc002bjw.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(301-303)GGG>TGG		SH3-domain GRB2-like 3							84.0	87.0	86.0					15																	84237394		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84237394G>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.301G>T	15.37:g.84237394G>T	ENSP00000391372:p.Gly101Trp					SH3GL3_uc010uot.1_Missense_Mutation_p.G101W|SH3GL3_uc002bjx.2_Missense_Mutation_p.G32W|SH3GL3_uc002bju.2_Missense_Mutation_p.G109W|SH3GL3_uc002bjv.2_RNA	p.G101W	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			4	496	+			101			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.301G>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822343	0.71028	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	4.86	4.86	0.63082	BAR (3);	0.000000	0.85682	D	0.000000	D	0.87501	0.6193	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90536	0.4499	10	0.87932	D	0	-21.2318	17.3782	0.87398	0.0:0.0:1.0:0.0	.	101;101;109	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	W	101;101;109;109	ENSP00000391372:G101W;ENSP00000439239:G101W;ENSP00000320092:G109W;ENSP00000397871:G109W	ENSP00000320092:G109W	G	+	1	0	SH3GL3	82028398	1.000000	0.71417	0.945000	0.38365	0.460000	0.32559	9.384000	0.97219	2.402000	0.81655	0.544000	0.68410	GGG		0.527	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		41	103	1	0	3.39706e-21	0.00361	4.92459e-21	41	103				
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:85326477G>C	ENST00000560079.2	+	4	859	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	ZNF592_ENST00000299927.3_Missense_Mutation_p.V191L	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death (GO:0008219)|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.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTTTCCGGTTCCAGAGCT	0.537																																							uc002bld.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(571-573)GTT>CTT		zinc finger protein 592							69.0	83.0	78.0					15																	85326477		2202	4298	6500	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326477G>C	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.571G>C	15.37:g.85326477G>C	ENSP00000452877:p.Val191Leu					ZNF592_uc010upb.1_RNA	p.V191L	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	907	+			191					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.571G>C	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	8.393	0.840107	0.16891	.	.	ENSG00000166716	ENST00000299927	T	0.00611	6.23	5.53	5.53	0.82687	.	0.294571	0.32218	N	0.006415	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.23990	0.095	B	0.25506	0.061	T	0.61749	-0.6999	10	0.27785	T	0.31	-26.121	17.004	0.86388	0.0:0.0:1.0:0.0	.	191	Q92610	ZN592_HUMAN	L	191	ENSP00000299927:V191L	ENSP00000299927:V191L	V	+	1	0	ZNF592	83127481	1.000000	0.71417	0.823000	0.32752	0.352000	0.29268	6.418000	0.73341	2.882000	0.98803	0.655000	0.94253	GTT		0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		29	89	0	0	0	0.008361	0	29	89				
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	C	A	rs545196930		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:86838537C>A	ENST00000441037.2	+	16	2229	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	AGBL1_ENST00000421325.2_Silent_p.R712R|AGBL1_ENST00000389298.3_Silent_p.R443R|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1-AS1_ENST00000566878.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468																																							uc002blz.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2134-2136)CGG>AGG		ATP/GTP binding protein-like 1							73.0	72.0	72.0					15																	86838537		1947	4145	6092	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838537C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2134C>A	15.37:g.86838537C>A						AGBL1_uc002bma.1_Silent_p.R443R|AGBL1_uc002bmb.1_Silent_p.R406R	p.R712R	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			16	2214	+			712					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2134C>A	CCDS58398.1																																																																																				0.468	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		81	156	1	0	5.2429e-30	0.00361	8.26618e-30	81	156				
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:102197168C>T	ENST00000335968.3	-	18	2433	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.K739K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGTATTTTCTTATTTAGTG	0.313																																							uc002bxm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2215-2217)AAG>AAA		threonyl-tRNA synthetase-like 2							101.0	92.0	95.0					15																	102197168		2203	4299	6502	SO:0001819	synonymous_variant	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102197168C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2217G>A	15.37:g.102197168C>T						TARSL2_uc002bxl.2_3'UTR|TARSL2_uc010usi.1_RNA	p.K739K	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		18	2272	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		739					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP	ENST00000335968.3	37	c.2217G>A	CCDS10394.1																																																																																				0.313	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		10	24	0	0	0	0.001855	0	10	24				
SRRM2	23524	broad.mit.edu	37	16	2814828	2814828	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:2814828A>G	ENST00000301740.8	+	11	4848	c.4299A>G	c.(4297-4299)agA>agG	p.R1433R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1433	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTTACCCAGAACTCCATCAA	0.512																																							uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4297-4299)AGA>AGG		splicing coactivator subunit SRm300							116.0	117.0	116.0					16																	2814828		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814828A>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4299A>G	16.37:g.2814828A>G						SRRM2_uc002crj.1_Silent_p.R1337R|SRRM2_uc002crl.1_Silent_p.R1433R|SRRM2_uc010bsu.1_Silent_p.R1337R	p.R1433R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	4848	+			1433			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.4299A>G	CCDS32373.1																																																																																				0.512	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	286	0	0	0	0.000602	0	5	286				
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20043655G>T	ENST00000570682.1	-	2	764	c.464C>A	c.(463-465)aCc>aAc	p.T155N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.T155N(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGGAAGCAGGTGATGTAAAC	0.522																																							uc002dgu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(463-465)ACC>AAC		G protein-coupled receptor 139							185.0	138.0	154.0					16																	20043655		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043655G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.464C>A	16.37:g.20043655G>T	ENSP00000458791:p.Thr155Asn					GPR139_uc010vaw.1_Missense_Mutation_p.T62N	p.T155N	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	626	-			155			Helical; Name=4; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.464C>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051649	0.19827	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.221404	0.47852	D	0.000220	T	0.34019	0.0883	N	0.14661	0.345	0.33576	D	0.599206	P	0.34800	0.469	B	0.39258	0.295	T	0.50338	-0.8840	9	0.54805	T	0.06	-47.152	11.6281	0.51158	0.1408:0.0:0.8592:0.0	.	155	Q6DWJ6	GP139_HUMAN	N	155	.	ENSP00000370779:T155N	T	-	2	0	GPR139	19951156	1.000000	0.71417	0.963000	0.40424	0.541000	0.35023	3.881000	0.56152	0.788000	0.33755	-0.768000	0.03414	ACC		0.522	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		35	316	1	0	7.53189e-24	0.007835	1.1251e-23	35	316				
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20360484C>A	ENST00000570689.1	-	3	285	c.139G>T	c.(139-141)Gtt>Ttt	p.V47F	UMOD_ENST00000396142.2_Missense_Mutation_p.V47F|UMOD_ENST00000302509.4_Missense_Mutation_p.V47F|UMOD_ENST00000396138.4_Missense_Mutation_p.V96F|UMOD_ENST00000424589.1_Missense_Mutation_p.V80F|UMOD_ENST00000396134.2_Missense_Mutation_p.V80F			P07911	UROM_HUMAN	uromodulin	47	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612																																							uc002dgz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(139-141)GTT>TTT		uromodulin precursor							55.0	48.0	51.0					16																	20360484		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20360484C>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.139G>T	16.37:g.20360484C>A	ENSP00000460548:p.Val47Phe					UMOD_uc002dha.2_Missense_Mutation_p.V47F|UMOD_uc002dhb.2_Missense_Mutation_p.V80F	p.V47F	NM_003361	NP_003352	P07911	UROM_HUMAN			3	268	-			47			EGF-like 1.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.139G>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	c	9.442	1.088301	0.20390	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.37	3.15	0.36227	EGF domain, merozoite surface protein 1-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.148560	0.06524	N	0.740189	D	0.85553	0.5723	L	0.33189	0.99	0.09310	N	1	P;P	0.39022	0.655;0.655	B;P	0.45232	0.389;0.474	T	0.76285	-0.3015	10	0.59425	D	0.04	-15.7309	3.9935	0.09548	0.2332:0.575:0.0:0.1918	.	80;47	E9PEA4;P07911	.;UROM_HUMAN	F	47;80;80;47;47;47	ENSP00000379438:V80F;ENSP00000416346:V80F;ENSP00000306279:V47F;ENSP00000379446:V47F	ENSP00000306279:V47F	V	-	1	0	UMOD	20267985	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-0.019000	0.12546	1.398000	0.46701	0.651000	0.88453	GTT		0.612	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			3	47	1	0	0.004672	0.004672	0.00487985	3	47				
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20380897C>A	ENST00000302451.4	-	8	1281	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	345					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.A345S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGTACCTGGCGTCAGAGCTC	0.468																																							uc002dhc.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1033-1035)GCC>TCC		protein disulfide isomerase-like, testis							193.0	188.0	189.0					16																	20380897		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20380897C>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1033G>T	16.37:g.20380897C>A	ENSP00000305465:p.Ala345Ser						p.A345S	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			8	1256	-			345					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1033G>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	6.802	0.517062	0.13005	.	.	ENSG00000169340	ENST00000302451	T	0.29142	1.58	4.58	0.235	0.15431	Thioredoxin-like fold (1);	0.597985	0.17672	N	0.165934	T	0.27832	0.0685	M	0.65975	2.015	0.09310	N	1	B	0.27656	0.184	B	0.29353	0.101	T	0.19976	-1.0289	10	0.28530	T	0.3	.	7.9322	0.29909	0.0:0.5995:0.0:0.4005	.	345	Q8N807	PDILT_HUMAN	S	345	ENSP00000305465:A345S	ENSP00000305465:A345S	A	-	1	0	PDILT	20288398	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.674000	0.25218	0.199000	0.20427	-0.986000	0.02555	GCC		0.468	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		48	330	1	0	4.88482e-21	0.00361	7.0624e-21	48	330				
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21737980G>T	ENST00000286149.4	+	18	2059		c.e18+1		OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000388958.3_Splice_Site|OTOA_ENST00000388957.3_Splice_Site			Q7RTW8	OTOAN_HUMAN	otoancorin						cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCAGTGCCTGGTAAGAAAACT	0.537																																							uc002djh.2		NA																	2	Unknown(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e18+1		otoancorin isoform 1							81.0	77.0	79.0					16																	21737980		2198	4300	6498	SO:0001630	splice_region_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21737980G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2058+1G>T	16.37:g.21737980G>T						uc002diq.3_Intron|OTOA_uc010vbj.1_Splice_Site_p.L593_splice|OTOA_uc002dji.2_Splice_Site_p.L348_splice|OTOA_uc010vbk.1_Splice_Site_p.L320_splice	p.L672_splice	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	18	2017	+								A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	SNP	ENST00000286149.4	37	c.2016_splice		.	.	.	.	.	.	.	.	.	.	G	19.22	3.786533	0.70337	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2811	0.66213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOA	21645481	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.196000	0.65136	2.519000	0.84933	0.655000	0.94253	.		0.537	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		Intron	31	190	1	0	2.87052e-16	0.005524	3.90941e-16	31	190				
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21999929A>C	ENST00000424898.2	-	3	457	c.395T>G	c.(394-396)gTa>gGa	p.V132G	PDZD9_ENST00000286143.6_Missense_Mutation_p.V70G|PDZD9_ENST00000537222.2_Missense_Mutation_p.V72G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	132								p.V70G(2)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TTACCTTGTTACTGGGAATTT	0.343																																							uc002dka.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(208-210)GTA>GGA		hypothetical protein LOC255762							63.0	61.0	62.0					16																	21999929		2197	4300	6497	SO:0001583	missense	255762							g.chr16:21999929A>C	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.395T>G	16.37:g.21999929A>C	ENSP00000400514:p.Val132Gly						p.V70G	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN			4	526	-			132					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.209T>G		.	.	.	.	.	.	.	.	.	.	A	17.27	3.346890	0.61183	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143;ENST00000521513	T	0.51325	0.71	5.21	5.21	0.72293	.	0.442255	0.18889	N	0.128362	T	0.56277	0.1974	L	0.47716	1.5	0.45502	D	0.998464	D	0.61697	0.99	P	0.58454	0.839	T	0.58940	-0.7547	10	0.87932	D	0	-9.027	11.504	0.50454	1.0:0.0:0.0:0.0	.	70	Q8IXQ8-2	.	G	132;72;70;72	ENSP00000400514:V132G	ENSP00000286143:V70G	V	-	2	0	PDZD9	21907430	0.469000	0.25846	0.623000	0.29173	0.752000	0.42762	2.313000	0.43735	1.972000	0.57404	0.482000	0.46254	GTA		0.343	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		29	82	0	0	0	0.009535	0	29	82				
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23634330C>A	ENST00000261584.4	-	9	3108	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D986Y(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTTGTTGATCAGAAAGGGTC	0.378			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002dlx.1		NA	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(2956-2958)GAT>TAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							178.0	164.0	169.0					16																	23634330		2197	4300	6497	SO:0001583	missense	79728	FanconAnemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23634330C>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2956G>T	16.37:g.23634330C>A	ENSP00000261584:p.Asp986Tyr						p.D986Y	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	9	3156	-			986			Interaction with RAD51 and BRCA2.|WD 3.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2956G>T	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877987	0.51801	.	.	ENSG00000083093	ENST00000261584	T	0.56941	0.43	5.84	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.328129	0.31031	N	0.008400	T	0.63593	0.2524	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.63283	0.913	T	0.55698	-0.8100	10	0.87932	D	0	-15.2658	7.3573	0.26727	0.0:0.8058:0.0:0.1942	.	986	Q86YC2	PALB2_HUMAN	Y	986	ENSP00000261584:D986Y	ENSP00000261584:D986Y	D	-	1	0	PALB2	23541831	0.885000	0.30320	0.587000	0.28692	0.785000	0.44390	1.993000	0.40747	1.446000	0.47643	0.484000	0.47621	GAT		0.378	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		46	196	1	0	1.44317e-28	0.00361	2.25234e-28	46	196				
DCTN5	84516	broad.mit.edu	37	16	23669846	23669846	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23669846T>G	ENST00000300087.2	+	3	287	c.136T>G	c.(136-138)Tgt>Ggt	p.C46G	DCTN5_ENST00000568589.1_Missense_Mutation_p.C46G|DCTN5_ENST00000563998.1_Missense_Mutation_p.C46G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	46					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)		p.C46G(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GATGAATGACTGTATTATCCG	0.378																																							uc002dly.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(136-138)TGT>GGT		dynactin 5							167.0	146.0	153.0					16																	23669846		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23669846T>G		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.136T>G	16.37:g.23669846T>G	ENSP00000300087:p.Cys46Gly						p.C46G	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	3	193	+			46					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.136T>G	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036420	0.54896	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.3	5.3	0.74995	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.75264	2.295	0.80722	D	1	B	0.33022	0.394	B	0.30316	0.114	T	0.64508	-0.6391	9	0.48119	T	0.1	-7.5435	13.4842	0.61355	0.0:0.0:0.0:1.0	.	46	Q9BTE1	DCTN5_HUMAN	G	46	.	ENSP00000300087:C46G	C	+	1	0	DCTN5	23577347	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.130000	0.65690	0.460000	0.39030	TGT		0.378	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		6	249	0	0	0	0.001168	0	6	249				
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23713521T>C	ENST00000457008.2	-	11	1193	c.1155A>G	c.(1153-1155)gcA>gcG	p.A385A	ERN2_ENST00000256797.4_Silent_p.A433A					endoplasmic reticulum to nucleus signaling 2									p.A433A(2)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTCTTGTCTCTGCAGTTCCAC	0.622																																							uc002dma.3		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|lung(2)|ovary(2)	6						c.(1297-1299)GCA>GCG		endoplasmic reticulum to nucleus signalling 2							84.0	89.0	87.0					16																	23713521		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713521T>C	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1155A>G	16.37:g.23713521T>C						ERN2_uc010bxp.2_Silent_p.A433A|ERN2_uc010bxq.1_Silent_p.A241A	p.A433A	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1468	-			385			Lumenal (Potential).			Silent	SNP	ENST00000457008.2	37	c.1299A>G																																																																																					0.622	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			8	70	0	0	0	0.00308	0	8	70				
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Splice_Site	SNP	C	C	A	rs540341676		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24046867C>A	ENST00000321728.7	+	5	703	c.528C>A	c.(526-528)ctC>ctA	p.L176L	PRKCB_ENST00000303531.7_Splice_Site_p.L176L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	176	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.L176L(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCATTGTCCTCGGTAGGTGGC	0.647																																							uc002dmd.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(526-528)CTC>CTA		protein kinase C, beta isoform 1	Vitamin E(DB00163)						69.0	65.0	67.0					16																	24046867		2197	4300	6497	SO:0001630	splice_region_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24046867C>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.529+1C>A	16.37:g.24046867C>A						PRKCB_uc002dme.2_Silent_p.L176L	p.L176L	NM_212535	NP_997700	P05771	KPCB_HUMAN			5	725	+			176			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.528C>A	CCDS10618.1																																																																																				0.647	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Silent	29	129	1	0	9.65021e-13	0.002096	1.24222e-12	29	129				
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24578506G>C	ENST00000319715.4	+	15	2064	c.1632G>C	c.(1630-1632)agG>agC	p.R544S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.R544S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	544					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R544S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATCACAGAGGACTCAAGGCC	0.478																																							uc002dmh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1630-1632)AGG>AGC		retinoblastoma-binding protein 6 isoform 1							159.0	148.0	152.0					16																	24578506		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24578506G>C		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1632G>C	16.37:g.24578506G>C	ENSP00000317872:p.Arg544Ser					RBBP6_uc010vcb.1_Missense_Mutation_p.R411S|RBBP6_uc002dmi.2_Missense_Mutation_p.R544S|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R411S	p.R544S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	15	2672	+			544					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.1632G>C	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119398	0.37436	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.18174	2.23;2.35	5.8	-1.23	0.09465	.	0.000000	0.64402	D	0.000007	T	0.23171	0.0560	L	0.27053	0.805	0.38415	D	0.946035	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.01528	-1.1332	10	0.59425	D	0.04	-24.5257	10.6755	0.45783	0.4825:0.0:0.5175:0.0	.	544;544	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	S	544	ENSP00000317872:R544S;ENSP00000316291:R544S	ENSP00000317872:R544S	R	+	3	2	RBBP6	24486007	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	0.941000	0.29005	-0.192000	0.10432	0.563000	0.77884	AGG		0.478	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		41	144	0	0	0	0.00361	0	41	144				
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24895432C>T	ENST00000347898.3	+	8	1266	c.644C>T	c.(643-645)gCg>gTg	p.A215V	SLC5A11_ENST00000449109.2_Missense_Mutation_p.A151V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A180V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A180V	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.A215V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTATAGGAGCGCTCACCTTG	0.592																																							uc002dmu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(643-645)GCG>GTG		solute carrier family 5 (sodium/glucose							159.0	145.0	150.0					16																	24895432		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24895432C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.644C>T	16.37:g.24895432C>T	ENSP00000289932:p.Ala215Val					SLC5A11_uc002dms.2_Missense_Mutation_p.A151V|SLC5A11_uc010vcd.1_Missense_Mutation_p.A180V|SLC5A11_uc002dmt.2_Missense_Mutation_p.A151V|SLC5A11_uc010vce.1_Missense_Mutation_p.A145V|SLC5A11_uc010bxt.2_Missense_Mutation_p.A151V	p.A215V	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	8	876	+			215			Helical; (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.644C>T	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253773	0.95336	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.11	5.11	0.69529	.	0.050865	0.85682	D	0.000000	D	0.95500	0.8538	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.77004	0.962;0.937;0.976;0.989	D	0.96426	0.9315	10	0.87932	D	0	.	16.0468	0.80725	0.0:1.0:0.0:0.0	.	145;180;215;151	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	V	215;151;180;145;151	ENSP00000289932:A215V;ENSP00000389606:A151V;ENSP00000416782:A180V;ENSP00000441384:A145V;ENSP00000441018:A151V	ENSP00000289932:A215V	A	+	2	0	SLC5A11	24802933	1.000000	0.71417	0.914000	0.36105	0.884000	0.51177	5.792000	0.69052	2.376000	0.81061	0.655000	0.94253	GCG		0.592	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		91	313	0	0	0	0.00361	0	91	313				
GTF3C1	2975	broad.mit.edu	37	16	27540011	27540011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:27540011T>A	ENST00000356183.4	-	6	896	c.881A>T	c.(880-882)tAc>tTc	p.Y294F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y294F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	294					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.Y294F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATATACTGGTACAGACGCTT	0.453																																							uc002dov.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(880-882)TAC>TTC		general transcription factor IIIC, polypeptide							140.0	139.0	139.0					16																	27540011		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27540011T>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.881A>T	16.37:g.27540011T>A	ENSP00000348510:p.Tyr294Phe					GTF3C1_uc002dou.2_Missense_Mutation_p.Y294F	p.Y294F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			6	921	-			294					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.881A>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341166	0.60963	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22539	1.95	5.26	5.26	0.73747	.	0.143225	0.48286	D	0.000197	T	0.30916	0.0780	L	0.29908	0.895	0.36266	D	0.854846	D;D	0.76494	0.992;0.999	P;D	0.70935	0.864;0.971	T	0.24368	-1.0162	10	0.32370	T	0.25	-6.2965	11.7724	0.51967	0.0:0.0:0.1469:0.8531	.	294;294	Q12789;Q12789-3	TF3C1_HUMAN;.	F	294;292	ENSP00000348510:Y294F	ENSP00000348510:Y294F	Y	-	2	0	GTF3C1	27447512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.270000	0.51600	2.118000	0.64928	0.533000	0.62120	TAC		0.453	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		21	562	0	0	0	0.003954	0	21	562				
APOBR	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:28509228G>T	ENST00000431282.1	+	3	2849	c.2839G>T	c.(2839-2841)Gca>Tca	p.A947S	APOBR_ENST00000328423.5_Missense_Mutation_p.A947S|APOBR_ENST00000564831.1_Missense_Mutation_p.A956S|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	947	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.A947S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCAGGCCCCTGCAGAAGCTGC	0.667																																							uc002dqb.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2839-2841)GCA>TCA		apolipoprotein B48 receptor							27.0	33.0	31.0					16																	28509228		2197	4300	6497	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509228G>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2839G>T	16.37:g.28509228G>T	ENSP00000416094:p.Ala947Ser					uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.A485S	p.A947S	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	2849	+			947			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.2839G>T		.	.	.	.	.	.	.	.	.	.	G	9.830	1.188216	0.21954	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.62941	-0.01;-0.01	3.92	-2.86	0.05717	.	.	.	.	.	T	0.42854	0.1221	L	0.27053	0.805	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.19391	0.025;0.015	T	0.33523	-0.9865	9	0.49607	T	0.09	-0.0141	4.8686	0.13620	0.5687:0.1938:0.2375:0.0	.	947;947	Q0VD83;Q9NS13	APOBR_HUMAN;.	S	947	ENSP00000327669:A947S;ENSP00000416094:A947S	ENSP00000327669:A947S	A	+	1	0	APOBR	28416729	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.230000	0.09083	-0.331000	0.08501	0.457000	0.33378	GCA		0.667	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		24	82	1	0	7.26314e-15	0.007291	9.58948e-15	24	82				
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:28898990C>T	ENST00000357084.3	+	8	1142	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A292V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A167V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	292					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.A292V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCGCGGGGCCATCTACTAC	0.547																																							uc002dro.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(874-876)GCC>GTC		ATPase, Ca++ transporting, fast twitch 1 isoform							86.0	84.0	84.0					16																	28898990		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28898990C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.875C>T	16.37:g.28898990C>T	ENSP00000349595:p.Ala292Val					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.A292V|ATP2A1_uc002drp.1_Missense_Mutation_p.A167V|ATP2A1_uc010bym.1_5'Flank	p.A292V	NM_173201	NP_775293	O14983	AT2A1_HUMAN			8	1059	+			292			Lumenal (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.875C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412711	0.96072	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.90133	-2.62;-2.62;-2.62	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	L	0.48877	1.53	0.80722	D	1	D;B;B	0.76494	0.999;0.188;0.156	D;B;B	0.66084	0.941;0.074;0.104	D	0.94017	0.7289	10	0.87932	D	0	.	17.6614	0.88193	0.0:1.0:0.0:0.0	.	167;292;292	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	V	292;292;329;167	ENSP00000349595:A292V;ENSP00000378879:A292V;ENSP00000443101:A167V	ENSP00000349595:A292V	A	+	2	0	ATP2A1	28806491	1.000000	0.71417	0.991000	0.47740	0.895000	0.52256	7.794000	0.85869	2.458000	0.83093	0.467000	0.42956	GCC		0.547	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		3	48	0	0	0	0.004672	0	3	48				
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29675148G>T	ENST00000360121.3	+	2	191	c.99G>T	c.(97-99)ttG>ttT	p.L33F	SPN_ENST00000395389.2_Missense_Mutation_p.L33F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L33F(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAGAGCCTTTGGTCTCTACTA	0.577																																							uc002dtm.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(97-99)TTG>TTT		sialophorin precursor							116.0	122.0	120.0					16																	29675148		2197	4300	6497	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675148G>T	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.99G>T	16.37:g.29675148G>T	ENSP00000353238:p.Leu33Phe					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.L33F|SPN_uc010bzd.2_RNA	p.L33F	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	235	+			33			Extracellular (Potential).		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.99G>T	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.253350	0.22965	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.33654	1.4;1.4;1.4	3.27	-1.65	0.08291	.	8.387490	0.00424	N	0.000069	T	0.32704	0.0838	L	0.48642	1.525	0.09310	N	1	P	0.49635	0.926	B	0.43536	0.423	T	0.28554	-1.0040	10	0.41790	T	0.15	.	4.6001	0.12348	0.2358:0.4014:0.3628:0.0	.	33	P16150	LEUK_HUMAN	F	33	ENSP00000378787:L33F;ENSP00000412907:L33F;ENSP00000353238:L33F	ENSP00000353238:L33F	L	+	3	2	SPN	29582649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.371000	0.20450	-0.240000	0.09696	-0.258000	0.10820	TTG		0.577	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			17	81	1	0	1.2644e-06	0.010504	1.44656e-06	17	81				
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29897071C>T	ENST00000308713.5	-	8	1736		c.e8-1		SEZ6L2_ENST00000537485.1_Splice_Site|SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000350527.3_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.?(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCATCAGCCTGGGATGGAC	0.557																																							uc002duq.3		NA																	4	Unknown(4)		lung(4)	ovary(1)|skin(1)	2						c.e8-1		seizure related 6 homolog (mouse)-like 2 isoform							42.0	38.0	40.0					16																	29897071		2197	4300	6497	SO:0001630	splice_region_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29897071C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1209-1G>A	16.37:g.29897071C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_p.R333_splice|SEZ6L2_uc002dur.3_Splice_Site_p.R333_splice|SEZ6L2_uc002dus.3_Splice_Site_p.R289_splice|SEZ6L2_uc010vec.1_Splice_Site_p.R403_splice|SEZ6L2_uc010ved.1_Splice_Site_p.R359_splice	p.R403_splice	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			8	1449	-								B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Splice_Site	SNP	ENST00000308713.5	37	c.1209_splice	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	24.1	4.491978	0.84962	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1439	0.86761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEZ6L2	29804572	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.373000	0.73128	2.785000	0.95823	0.645000	0.84053	.		0.557	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	Intron	3	40	0	0	0	0.000602	0	3	40				
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:31471201C>T	ENST00000563544.1	+	2	902	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ARMC5_ENST00000268314.4_Missense_Mutation_p.P119L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P151L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000457010.2_Missense_Mutation_p.P119L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P214L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	119								p.P214L(2)|p.P119L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGTCTAGTCCTACGCCGCCA	0.726																																							uc002ecc.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(355-357)CCT>CTT		armadillo repeat containing 5 isoform a							17.0	18.0	17.0					16																	31471201		1891	4058	5949	SO:0001583	missense	79798						binding	g.chr16:31471201C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.356C>T	16.37:g.31471201C>T	ENSP00000456877:p.Pro119Leu					ARMC5_uc010vfn.1_Missense_Mutation_p.P214L|ARMC5_uc010vfo.1_Missense_Mutation_p.P151L|ARMC5_uc002eca.3_Missense_Mutation_p.P119L|ARMC5_uc010vfp.1_Missense_Mutation_p.P119L|ARMC5_uc002ecb.2_Missense_Mutation_p.P119L	p.P119L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			1	885	+			119					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.356C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	C	4.055	0.007880	0.07866	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.63	1.62	0.23740	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.27524	0.0676	L	0.36672	1.1	0.18873	N	0.999982	B;B;B;B;B	0.13594	0.001;0.001;0.002;0.001;0.008	B;B;B;B;B	0.14023	0.002;0.002;0.005;0.001;0.01	T	0.24333	-1.0163	9	0.16896	T	0.51	-45.8303	5.5126	0.16888	0.0:0.6851:0.2017:0.1131	.	151;151;214;119;119	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	L	214;151;119;119	ENSP00000386125:P214L;ENSP00000443995:P151L;ENSP00000268314:P119L;ENSP00000399561:P119L	ENSP00000268314:P119L	P	+	2	0	ARMC5	31378702	0.533000	0.26354	0.036000	0.18154	0.016000	0.09150	1.293000	0.33353	0.510000	0.28216	-0.225000	0.12378	CCT		0.726	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		7	20	0	0	0	0.00308	0	7	20				
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:46715307C>G	ENST00000299138.7	-	4	363	c.305G>C	c.(304-306)gGa>gCa	p.G102A	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	102					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.G102A(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAATGTTTCCAGCATACTG	0.378																																							uc002eef.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(304-306)GGA>GCA		vacuolar protein sorting 35							107.0	98.0	101.0					16																	46715307		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46715307C>G	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.305G>C	16.37:g.46715307C>G	ENSP00000299138:p.Gly102Ala					VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.G63A	p.G102A	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			4	404	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	102					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.305G>C	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	24.4	4.532386	0.85812	.	.	ENSG00000069329	ENST00000299138	T	0.58060	0.36	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.81944	-0.0701	10	0.59425	D	0.04	-17.9298	18.284	0.90108	0.0:1.0:0.0:0.0	.	102	Q96QK1	VPS35_HUMAN	A	102	ENSP00000299138:G102A	ENSP00000299138:G102A	G	-	2	0	VPS35	45272808	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.818000	0.86416	2.364000	0.80123	0.557000	0.71058	GGA		0.378	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			31	140	0	0	0	0.004878	0	31	140				
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:58616700T>A	ENST00000317147.5	-	10	1373	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	CNOT1_ENST00000569240.1_Missense_Mutation_p.E347D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E347D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.E347D(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTCACCAGTTCTTTAAGAA	0.383																																							uc002env.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|central_nervous_system(2)	6						c.(1039-1041)GAA>GAT		CCR4-NOT transcription complex, subunit 1							158.0	149.0	152.0					16																	58616700		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58616700T>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1041A>T	16.37:g.58616700T>A	ENSP00000320949:p.Glu347Asp					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.E347D|CNOT1_uc002enx.2_Missense_Mutation_p.E347D|CNOT1_uc002enz.1_Intron	p.E347D	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	10	1334	-			347					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1041A>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434257	0.43224	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.44881	0.91;0.91	5.88	-0.64	0.11493	.	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.31664	0.95	0.80722	D	1	B;B;B	0.24043	0.004;0.023;0.096	B;B;B	0.22152	0.009;0.011;0.038	T	0.06917	-1.0800	9	.	.	.	-7.9965	10.8456	0.46741	0.0:0.6689:0.0:0.3311	.	347;347;347	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	D	347	ENSP00000320949:E347D;ENSP00000413113:E347D	.	E	-	3	2	CNOT1	57174201	0.998000	0.40836	0.997000	0.53966	0.715000	0.41141	0.519000	0.22862	-0.092000	0.12417	-0.280000	0.10049	GAA		0.383	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		5	34	0	0	0	0.000602	0	5	34				
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:68849475G>T	ENST00000261769.5	+	10	1569	c.1378G>T	c.(1378-1380)Gta>Tta	p.V460L	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.V399L|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	460	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.V460L(2)|p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACGAATGTGGTACCTTTTGA	0.473			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		4	Substitution - Missense(2)|Unknown(1)|Deletion - In frame(1)	p.G441_E463del(1)	lung(2)|stomach(1)|breast(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1378-1380)GTA>TTA		cadherin 1, type 1 preproprotein							166.0	138.0	147.0					16																	68849475		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68849475G>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1378G>T	16.37:g.68849475G>T	ENSP00000261769:p.Val460Leu					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.V399L	p.V460L	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	10	1502	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	460			Cadherin 3.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1378G>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	9.068	0.996197	0.19043	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.52754	1.2;0.65	5.7	1.49	0.22878	Cadherin (4);Cadherin-like (1);	1.875980	0.02862	N	0.130485	T	0.43523	0.1251	L	0.52364	1.645	0.09310	N	1	B;B	0.18968	0.032;0.005	B;B	0.19946	0.027;0.017	T	0.20174	-1.0283	10	0.44086	T	0.13	.	4.9387	0.13954	0.1313:0.1193:0.6257:0.1237	.	399;460	Q9UII8;P12830	.;CADH1_HUMAN	L	460;478;460;399	ENSP00000261769:V460L;ENSP00000414946:V399L	ENSP00000261769:V460L	V	+	1	0	CDH1	67406976	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.811000	0.27198	0.059000	0.16252	0.555000	0.69702	GTA		0.473	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		47	259	1	0	4.44712e-29	0.00361	6.96071e-29	47	259				
NFAT5	10725	broad.mit.edu	37	16	69660388	69660388	+	Silent	SNP	C	C	T	rs201390290		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:69660388C>T	ENST00000354436.2	+	2	474	c.156C>T	c.(154-156)agC>agT	p.S52S	NFAT5_ENST00000432919.1_Silent_p.S70S|NFAT5_ENST00000349945.1_5'UTR|NFAT5_ENST00000567239.1_Silent_p.S70S|NFAT5_ENST00000566899.1_5'UTR|NFAT5_ENST00000393742.2_5'UTR	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	52					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S70S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCAGACAAGCGGTGGTGAGG	0.448																																							uc002exm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)AGC>AGT		nuclear factor of activated T-cells 5 isoform c							85.0	84.0	85.0					16																	69660388		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69660388C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.156C>T	16.37:g.69660388C>T						NFAT5_uc002exh.1_5'UTR|NFAT5_uc002exi.2_5'UTR|NFAT5_uc002exj.1_5'UTR|NFAT5_uc002exk.1_5'UTR|NFAT5_uc002exl.1_Silent_p.S70S|NFAT5_uc002exn.1_Silent_p.S70S	p.S52S	NM_006599	NP_006590	O94916	NFAT5_HUMAN			2	1364	+			52					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.156C>T	CCDS10881.1																																																																																				0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	67	0	0	0	0.001984	0	4	67				
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	G	T	rs201571332	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:70897063G>T	ENST00000393567.2	-	68	11644	c.11494C>A	c.(11494-11496)Cgt>Agt	p.R3832S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463																																							uc002ezr.2		NA																	6	Substitution - Missense(6)		lung(4)|endometrium(2)	ovary(1)|skin(1)	2						c.(11491-11493)CGT>AGT		hydrocephalus inducing isoform a							64.0	58.0	60.0					16																	70897063		1884	4101	5985	SO:0001583	missense	54768							g.chr16:70897063G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11494C>A	16.37:g.70897063G>T	ENSP00000377197:p.Arg3832Ser					HYDIN_uc010cfy.2_RNA	p.R3831S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			68	11619	-		Ovarian(137;0.0654)	3832					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11491C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.180627	0.01633	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00768	5.72	5.36	-0.0206	0.13955	.	1.091040	0.07492	U	0.905798	T	0.00328	0.0010	N	0.00583	-1.355	0.27275	N	0.958265	B	0.15473	0.013	B	0.09377	0.004	T	0.38866	-0.9641	10	0.05525	T	0.97	.	8.0021	0.30304	0.0:0.1037:0.3633:0.5331	.	3831	F8WD23	.	S	3832;3831	ENSP00000377197:R3832S	ENSP00000313052:R3831S	R	-	1	0	HYDIN	69454564	0.031000	0.19500	0.159000	0.22649	0.181000	0.23173	-0.081000	0.11321	0.104000	0.17725	0.511000	0.50034	CGT		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			31	195	1	0	2.05212e-20	0.005524	2.94719e-20	31	195				
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:70908208C>A	ENST00000393567.2	-	64	11098	c.10948G>T	c.(10948-10950)Gct>Tct	p.A3650S	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3650					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A3601S(2)|p.A3649S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTCCCACCTGCCACCAAG	0.458																																							uc002ezr.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(10945-10947)GCT>TCT		hydrocephalus inducing isoform a							95.0	106.0	102.0					16																	70908208		1934	4143	6077	SO:0001630	splice_region_variant	54768							g.chr16:70908208C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10948+1G>T	16.37:g.70908208C>A							p.A3649S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			64	11073	-		Ovarian(137;0.0654)	3650					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10945G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552291	0.45487	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00958	5.5	4.71	3.72	0.42706	.	0.247967	0.19589	N	0.110677	T	0.01222	0.0040	L	0.45581	1.43	0.80722	D	1	B	0.22746	0.074	B	0.20577	0.03	T	0.61377	-0.7075	9	.	.	.	.	11.5135	0.50507	0.1782:0.8218:0.0:0.0	.	3649	F8WD23	.	S	3650;3649	ENSP00000377197:A3650S	.	A	-	1	0	HYDIN	69465709	0.984000	0.35163	0.925000	0.36789	0.015000	0.08874	0.471000	0.22100	2.126000	0.65437	0.511000	0.50034	GCT		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Missense_Mutation	36	242	1	0	2.56175e-15	0.00361	3.41145e-15	36	242				
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486484	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:76486483_76486484CC>AG	ENST00000476707.1	+	7	1298_1299	c.1159_1160CC>AG	c.(1159-1161)CCa>AGa	p.P387R	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311R|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P383R|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					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.P359R(2)|p.P311R(2)|p.P383R(2)		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						TTTAGCACTGCCAGACTTCTCT	0.431																																							uc002feu.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)|pancreas(1)	2						c.(1150-1152)CCA>AGA		cell recognition protein CASPR4 isoform 1																																				SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486483_76486484CC>AG	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	Exception_encountered	16.37:g.76486483_76486484delinsAG	ENSP00000417628:p.Pro387Arg					CNTNAP4_uc002fev.1_Missense_Mutation_p.P248R|CNTNAP4_uc010chb.1_Missense_Mutation_p.P311R|CNTNAP4_uc002fex.1_Missense_Mutation_p.P387R|CNTNAP4_uc002few.2_Missense_Mutation_p.P359R	p.P384R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			10	1535_1536	+			384			Extracellular (Potential).		E9PFZ6|Q86YZ7	Missense_Mutation	DNP	ENST00000476707.1	37	c.1150_1151CC>AG																																																																																					0.431	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		15	124	0	0	0	0.004672	0	15	124				
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:84906614G>C	ENST00000262424.5	+	10	1222	c.998G>C	c.(997-999)cGc>cCc	p.R333P	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R332P|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R333P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.R333P(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGCATATGCCGCGCCGCCATC	0.547																																							uc010voh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(997-999)CGC>CCC		cysteine-rich secretory protein LCCL domain							103.0	100.0	101.0					16																	84906614		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84906614G>C	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.998G>C	16.37:g.84906614G>C	ENSP00000262424:p.Arg333Pro					CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.R332P|CRISPLD2_uc002fim.2_Missense_Mutation_p.R333P|CRISPLD2_uc002fin.3_Missense_Mutation_p.R333P	p.R333P	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN			10	1225	+			333			LCCL 1.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.998G>C	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928155	0.73327	.	.	ENSG00000103196	ENST00000262424	D	0.89617	-2.54	5.46	5.46	0.80206	LCCL (5);	0.056717	0.64402	D	0.000002	D	0.94401	0.8199	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.984	D	0.94630	0.7821	10	0.72032	D	0.01	.	17.1684	0.86822	0.0:0.0:1.0:0.0	.	333;333;333	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	P	333	ENSP00000262424:R333P	ENSP00000262424:R333P	R	+	2	0	CRISPLD2	83464115	1.000000	0.71417	0.997000	0.53966	0.694000	0.40290	7.840000	0.86819	2.713000	0.92767	0.655000	0.94253	CGC		0.547	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		25	148	0	0	0	0.002096	0	25	148				
FAM92B	339145	broad.mit.edu	37	16	85139044	85139044	+	Intron	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:85139044C>A	ENST00000539556.1	-	6	588					NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B									p.?(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CTGCCTGGCCCCAGGGACACA	0.582																																							uc010vok.1		NA																	2	Unknown(2)		lung(2)	central_nervous_system(1)	1						c.e5-1		hypothetical protein LOC339145																																				SO:0001627	intron_variant	339145							g.chr16:85139044C>A		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.433-7G>T	16.37:g.85139044C>A							p.S143_splice	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN			5	583	-									Splice_Site	SNP	ENST00000539556.1	37	c.427_splice	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	C	5.789	0.329870	0.10956	.	.	ENSG00000153789	ENST00000393246	.	.	.	3.48	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1378	0.20243	0.0:0.8556:0.0:0.1444	.	.	.	.	.	-1	.	.	.	-	.	.	FAM92B	83696545	0.000000	0.05858	0.987000	0.45799	0.430000	0.31655	-0.020000	0.12525	1.005000	0.39183	0.491000	0.48974	.		0.582	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		10	16	1	0	2.17888e-05	0.006214	2.42847e-05	10	16				
OR3A3	8392	broad.mit.edu	37	17	3324705	3324705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:3324705G>T	ENST00000291231.1	+	1	844	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	282					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.G282W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAAGGATAAGGGGGTTGGGGT	0.507																																							uc010vrd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(844-846)GGG>TGG		olfactory receptor, family 3, subfamily A,							134.0	130.0	132.0					17																	3324705		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324705G>T	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.844G>T	17.37:g.3324705G>T	ENSP00000291231:p.Gly282Trp						p.G282W	NM_012373	NP_036505	P47888	OR3A3_HUMAN			1	844	+			282			Helical; Name=7; (Potential).		Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.844G>T	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.291959	0.40594	.	.	ENSG00000159961	ENST00000291231	T	0.00099	8.73	2.56	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	L	0.37507	1.11	0.09310	N	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.65026	-0.6268	9	0.54805	T	0.06	.	12.7427	0.57261	0.0:0.0:1.0:0.0	.	282	P47888	OR3A3_HUMAN	W	282	ENSP00000291231:G282W	ENSP00000291231:G282W	G	+	1	0	OR3A3	3271455	0.000000	0.05858	0.494000	0.27515	0.860000	0.49131	0.378000	0.20569	1.697000	0.51169	0.655000	0.94253	GGG		0.507	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			114	252	1	0	6.85551e-66	0.00361	1.26563e-65	114	252				
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:5045714G>A	ENST00000574788.1	+	25	3965	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	USP6_ENST00000304328.5_Missense_Mutation_p.G262R|USP6_ENST00000332776.4_Missense_Mutation_p.G579R|USP6_ENST00000250066.6_Missense_Mutation_p.G579R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	579	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.G579R(4)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTATGAAGGGGCATATGGC	0.418			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																		uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		4	Substitution - Missense(4)		lung(4)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1735-1737)GGG>AGG		ubiquitin specific protease 6							59.0	58.0	58.0					17																	5045714		2203	4299	6502	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5045714G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1735G>A	17.37:g.5045714G>A	ENSP00000460380:p.Gly579Arg					USP6_uc002gav.1_Missense_Mutation_p.G579R|USP6_uc010ckz.1_Missense_Mutation_p.G262R	p.G579R	NM_004505	NP_004496	P35125	UBP6_HUMAN			25	3965	+			579					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1735G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461516	0.63513	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.33438	1.41;1.41;1.41	2.63	2.63	0.31362	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64964	-0.6283	10	0.87932	D	0	.	11.0154	0.47685	0.0:0.0:1.0:0.0	.	262;579	P35125-2;P35125	.;UBP6_HUMAN	R	579;579;262	ENSP00000328010:G579R;ENSP00000250066:G579R;ENSP00000305473:G262R	ENSP00000250066:G579R	G	+	1	0	USP6	4986438	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.469000	0.97679	1.470000	0.48102	0.194000	0.17425	GGG		0.418	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		7	17	0	0	0	0.001855	0	7	17				
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:10399714G>T	ENST00000226207.5	-	34	4903	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1603R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGTGTGCTCTGCATGG	0.448																																							uc002gmo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4807-4809)AGC>AGA		myosin, heavy chain 1, skeletal muscle, adult							264.0	232.0	243.0					17																	10399714		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399714G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4809C>A	17.37:g.10399714G>T	ENSP00000226207:p.Ser1603Arg					uc002gml.1_Intron	p.S1603R	NM_005963	NP_005954	P12882	MYH1_HUMAN			34	4903	-			1603			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4809C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924733	0.34002	.	.	ENSG00000109061	ENST00000226207	T	0.77877	-1.13	5.52	4.53	0.55603	Myosin tail (1);	0.123664	0.35838	U	0.002950	T	0.76435	0.3987	M	0.75447	2.3	0.40998	D	0.9849	B	0.09022	0.002	B	0.17979	0.02	T	0.76534	-0.2924	10	0.87932	D	0	.	11.5298	0.50601	0.1415:0.0:0.8585:0.0	.	1603	P12882	MYH1_HUMAN	R	1603	ENSP00000226207:S1603R	ENSP00000226207:S1603R	S	-	3	2	MYH1	10340439	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	2.958000	0.49145	2.734000	0.93682	0.655000	0.94253	AGC		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		199	477	1	0	1.23147e-137	0.00361	2.37922e-137	199	477				
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:10448802G>A	ENST00000245503.5	-	5	750	c.366C>T	c.(364-366)ttC>ttT	p.F122F	MYH2_ENST00000397183.2_Silent_p.F122F|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.F122F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453																																							uc010coi.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(364-366)TTC>TTT		myosin heavy chain IIa							71.0	74.0	73.0					17																	10448802		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10448802G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.366C>T	17.37:g.10448802G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.F122F|MYH2_uc010coj.2_Silent_p.F122F	p.F122F	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			5	494	-			122			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.366C>T	CCDS11156.1																																																																																				0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		23	65	0	0	0	0.003954	0	23	65				
DNAH9	1770	broad.mit.edu	37	17	11622751	11622751	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:11622751C>T	ENST00000262442.4	+	27	5721	c.5653C>T	c.(5653-5655)Cgc>Tgc	p.R1885C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1885C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R1885C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTGGGCCGCGCACTGGG	0.627																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5653-5655)CGC>TGC		dynein, axonemal, heavy chain 9 isoform 2							94.0	84.0	88.0					17																	11622751		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11622751C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5653C>T	17.37:g.11622751C>T	ENSP00000262442:p.Arg1885Cys					DNAH9_uc010coo.2_Missense_Mutation_p.R1179C	p.R1885C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	27	5721	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1885			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5653C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619649	0.66787	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.15256	2.44;2.44	5.19	1.7	0.24286	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000004	T	0.47820	0.1466	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64339	-0.6431	10	0.87932	D	0	.	13.7781	0.63066	0.4861:0.5139:0.0:0.0	.	1885	Q9NYC9	DYH9_HUMAN	C	1885;1885;467	ENSP00000262442:R1885C;ENSP00000414874:R1885C	ENSP00000262442:R1885C	R	+	1	0	DNAH9	11563476	0.981000	0.34729	0.992000	0.48379	0.783000	0.44284	2.369000	0.44231	1.169000	0.42739	0.555000	0.69702	CGC		0.627	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	104	0	0	0	0.000602	0	4	104				
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:11726350A>T	ENST00000262442.4	+	48	9313	c.9245A>T	c.(9244-9246)cAg>cTg	p.Q3082L	DNAH9_ENST00000454412.2_Splice_Site_p.Q3082L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3082	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Q3082L(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTCTGCCCAGGTGAGCAAT	0.542																																							uc002gne.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9244-9246)CAG>CTG		dynein, axonemal, heavy chain 9 isoform 2							39.0	32.0	34.0					17																	11726350		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726350A>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9246+1A>T	17.37:g.11726350A>T						DNAH9_uc010coo.2_Missense_Mutation_p.Q2376L	p.Q3082L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	48	9313	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3082			Stalk (By similarity).|Potential.		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9245A>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183290	0.57800	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.79033	-1.23;-1.23	4.05	4.05	0.47172	Dynein heavy chain, coiled coil stalk (1);	0.224703	0.39083	N	0.001467	D	0.87928	0.6301	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89843	0.4004	10	0.87932	D	0	.	13.4593	0.61219	1.0:0.0:0.0:0.0	.	3082	Q9NYC9	DYH9_HUMAN	L	3082;3082;1664	ENSP00000262442:Q3082L;ENSP00000414874:Q3082L	ENSP00000262442:Q3082L	Q	+	2	0	DNAH9	11667075	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	8.648000	0.91062	1.812000	0.52913	0.455000	0.32223	CAG		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	14	38	0	0	0	0.003163	0	14	38				
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:25967657C>T	ENST00000395473.2	+	3	1659	c.191C>T	c.(190-192)cCt>cTt	p.P64L	LGALS9_ENST00000313648.6_Missense_Mutation_p.P64L|LGALS9_ENST00000413914.2_Intron|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.P64L|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000302228.5_Missense_Mutation_p.P64L	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	64	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)	p.P64L(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CACTTCAACCCTCGGTTTGAA	0.527																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(190-192)CCT>CTT		galectin-9 isoform long							130.0	125.0	126.0					17																	25967657		2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25967657C>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.191C>T	17.37:g.25967657C>T	ENSP00000378856:p.Pro64Leu					LGALS9_uc002gzq.2_Missense_Mutation_p.P64L|LGALS9_uc002gzr.2_Intron|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Missense_Mutation_p.P64L	p.P64L	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	309	+	Lung NSC(42;0.0103)		64			Galectin 1.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.191C>T	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325739	0.41197	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000448970	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	3.94	3.94	0.45596	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	H	0.98295	4.195	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.998	D;D;D	0.70716	0.949;0.97;0.97	T	0.65088	-0.6253	10	0.59425	D	0.04	.	13.9103	0.63862	0.0:1.0:0.0:0.0	.	64;64;64	F8W9W4;Q3B8N1;O00182	.;.;LEG9_HUMAN	L	64	ENSP00000378856:P64L;ENSP00000306228:P64L;ENSP00000312259:P64L;ENSP00000318214:P64L	ENSP00000306228:P64L	P	+	2	0	LGALS9	22991784	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	6.012000	0.70767	2.225000	0.72522	0.586000	0.80456	CCT		0.527	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		17	55	0	0	0	0.008871	0	17	55				
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:31105502C>A	ENST00000318217.5	-	3	698	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	MYO1D_ENST00000394649.4_Nonsense_Mutation_p.E44*|MYO1D_ENST00000583621.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.E132*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	132	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E132*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTTACCTTTCAACCTCTGCT	0.478																																							uc002hho.1		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(394-396)GAA>TAA		myosin ID							185.0	160.0	168.0					17																	31105502		2203	4300	6503	SO:0001587	stop_gained	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31105502C>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.394G>T	17.37:g.31105502C>A	ENSP00000324527:p.Glu132*					MYO1D_uc002hhp.1_Nonsense_Mutation_p.E132*|MYO1D_uc010wcb.1_Nonsense_Mutation_p.E132*	p.E132*	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		3	406	-			132			Myosin head-like.		A6H8V3|Q8NHP9	Nonsense_Mutation	SNP	ENST00000318217.5	37	c.394G>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	39	7.730550	0.98459	.	.	ENSG00000176658	ENST00000318217	.	.	.	5.2	5.2	0.72013	.	0.000000	0.40640	U	0.001046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6187	0.84924	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000324527:E132X	E	-	1	0	MYO1D	28129615	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	7.604000	0.82830	2.861000	0.98227	0.655000	0.94253	GAA		0.478	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			44	111	1	0	3.28156e-27	0.00361	5.04855e-27	44	111				
AATF	26574	broad.mit.edu	37	17	35311178	35311178	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:35311178G>A	ENST00000225402.5	+	4	1054	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	268					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G268D(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GACAAAGGTGGCCCAGAATTT	0.418																																					NSCLC(49;901 1159 19183 41572 46244)	NSCLC(49;901 1159 19183 41572 46244)	uc002hni.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GGC>GAC		apoptosis antagonizing transcription factor							82.0	79.0	80.0					17																	35311178		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35311178G>A	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.803G>A	17.37:g.35311178G>A	ENSP00000225402:p.Gly268Asp					AATF_uc002hnj.2_RNA	p.G268D	NM_012138	NP_036270	Q9NY61	AATF_HUMAN			4	1054	+		Breast(25;0.00607)	268					A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.803G>A	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170332	0.78452	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	L	0.49513	1.565	0.80722	D	1	B	0.34103	0.437	P	0.45377	0.478	T	0.56884	-0.7905	9	0.02654	T	1	-17.7446	19.6813	0.95964	0.0:0.0:1.0:0.0	.	268	Q9NY61	AATF_HUMAN	D	268	.	ENSP00000225402:G268D	G	+	2	0	AATF	32385291	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.431000	0.97494	2.754000	0.94517	0.591000	0.81541	GGC		0.418	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		11	119	0	0	0	0.001855	0	11	119				
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:36935738C>T	ENST00000269554.3	-	5	1032	c.552G>A	c.(550-552)ctG>ctA	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517																																							uc002hqs.2		NA																	3	Substitution - coding silent(3)		lung(2)|kidney(1)	ovary(1)	1						c.(550-552)CTG>CTA		phosphatidylinositol-5-phosphate 4-kinase, type							144.0	103.0	117.0					17																	36935738		2203	4300	6503	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36935738C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.552G>A	17.37:g.36935738C>T						PIP4K2B_uc010wdt.1_Silent_p.L184L|PIP4K2B_uc010wdu.1_Silent_p.L120L	p.L184L	NM_003559	NP_003550	P78356	PI42B_HUMAN			5	1033	-			184			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.552G>A	CCDS11329.1																																																																																				0.517	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		53	573	0	0	0	0.00361	0	53	573				
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																													uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		7	Substitution - Missense(7)	p.S310F(2)|p.S310Y(1)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(928-930)TCC>TTC		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868208C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	8	1167	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	310			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.929C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			105	145	0	0	0	0.00361	0	105	145				
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40175884C>T	ENST00000307641.5	+	4	1170	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NKIRAS2_ENST00000316082.4_Silent_p.N221N|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393881.3_Silent_p.N183N|NKIRAS2_ENST00000393885.4_Silent_p.N183N|NKIRAS2_ENST00000393884.2_Silent_p.N181N|NKIRAS2_ENST00000393880.1_Silent_p.N183N|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000449471.4_Silent_p.N127N|ZNF385C_ENST00000461831.1_5'Flank	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N183N(2)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCCGGAAGAACAAGGGCAGCG	0.607																																							uc002hyq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(547-549)AAC>AAT		NFKB inhibitor interacting Ras-like 2 isoform a							59.0	59.0	59.0					17																	40175884		2203	4300	6503	SO:0001819	synonymous_variant	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175884C>T	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.549C>T	17.37:g.40175884C>T						NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Silent_p.N183N|NKIRAS2_uc002hys.2_Silent_p.N183N|NKIRAS2_uc010wge.1_Silent_p.N127N|NKIRAS2_uc002hyt.2_Silent_p.N183N	p.N183N	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			4	614	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	183			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Silent	SNP	ENST00000307641.5	37	c.549C>T	CCDS11415.1																																																																																				0.607	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		12	27	0	0	0	0.004007	0	12	27				
WNK4	65266	broad.mit.edu	37	17	40940775	40940775	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40940775A>C	ENST00000246914.5	+	11	2138	c.2117A>C	c.(2116-2118)gAt>gCt	p.D706A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	706					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.D706A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGATTTGATCTGGATGGG	0.517																																					Esophageal Squamous(6;201 374 4964 23855 42828)	Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|stomach(1)	7						c.(2116-2118)GAT>GCT		WNK lysine deficient protein kinase 4							132.0	98.0	110.0					17																	40940775		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940775A>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2117A>C	17.37:g.40940775A>C	ENSP00000246914:p.Asp706Ala					WNK4_uc010wgx.1_Missense_Mutation_p.D370A|WNK4_uc002ibk.1_Missense_Mutation_p.D478A|WNK4_uc010wgy.1_Missense_Mutation_p.D50A	p.D706A	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2138	+		Breast(137;0.000143)	706					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2117A>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263347	0.80358	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.34667	1.35	4.98	4.98	0.66077	.	0.000000	0.50627	D	0.000106	T	0.57651	0.2068	M	0.71036	2.16	0.49213	D	0.99976	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.79784	0.992;0.993;0.965;0.976	T	0.58272	-0.7665	10	0.42905	T	0.14	-15.7608	13.7793	0.63073	1.0:0.0:0.0:0.0	.	50;706;706;706	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	A	706;478;50	ENSP00000246914:D706A	ENSP00000246914:D706A	D	+	2	0	WNK4	38194301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.100000	0.63781	0.533000	0.62120	GAT		0.517	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			7	89	0	0	0	0.004482	0	7	89				
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:42455747C>A	ENST00000262407.5	-	20	2108	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A693S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.A693S(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TTGCTTAGGGCCCGCATGTAG	0.647																																							uc002igt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(2077-2079)GCC>TCC		integrin alpha 2b preproprotein	Tirofiban(DB00775)						26.0	27.0	27.0					17																	42455747		2203	4298	6501	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42455747C>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2077G>T	17.37:g.42455747C>A	ENSP00000262407:p.Ala693Ser					ITGA2B_uc002igu.1_Missense_Mutation_p.A174S	p.A693S	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	20	2109	-		Prostate(33;0.0181)	693			Extracellular (Potential).		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.2077G>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895757	0.52121	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.44083	0.93;0.93	5.27	5.27	0.74061	Integrin alpha-2 (1);	0.000000	0.34986	N	0.003525	T	0.64659	0.2618	M	0.80028	2.48	0.80722	D	1	P;D	0.52996	0.848;0.957	P;P	0.61658	0.892;0.802	T	0.68379	-0.5424	10	0.72032	D	0.01	.	16.4299	0.83839	0.0:1.0:0.0:0.0	.	291;693	Q59FA8;P08514	.;ITA2B_HUMAN	S	693	ENSP00000262407:A693S;ENSP00000340536:A693S	ENSP00000262407:A693S	A	-	1	0	ITGA2B	39811273	0.991000	0.36638	0.857000	0.33713	0.032000	0.12392	3.268000	0.51585	2.749000	0.94314	0.655000	0.94253	GCC		0.647	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			14	2	1	0	3.52763e-06	0.00499	3.99774e-06	14	2				
STXBP4	252983	broad.mit.edu	37	17	53068212	53068212	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:53068212T>C	ENST00000376352.2	+	4	281	c.74T>C	c.(73-75)aTt>aCt	p.I25T	STXBP4_ENST00000405898.1_Missense_Mutation_p.I25T|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000398391.2_Intron|STXBP4_ENST00000434978.2_Missense_Mutation_p.I25T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	25	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I25T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATGATTACAATTGCCAAGGAA	0.393																																							uc002iuf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(73-75)ATT>ACT		syntaxin binding protein 4							117.0	120.0	119.0					17																	53068212		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53068212T>C	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.74T>C	17.37:g.53068212T>C	ENSP00000365530:p.Ile25Thr					STXBP4_uc010dcc.1_Intron|STXBP4_uc010dcd.1_Missense_Mutation_p.I25T	p.I25T	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			4	281	+			25			PDZ.		Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.74T>C	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714966	0.48622	.	.	ENSG00000166263	ENST00000376352;ENST00000405898;ENST00000434978	T;T;T	0.16597	2.33;2.33;2.33	5.88	5.88	0.94601	PDZ/DHR/GLGF (2);	0.523932	0.18074	N	0.152537	T	0.30510	0.0767	M	0.85462	2.755	0.80722	D	1	B;B	0.32753	0.351;0.383	B;B	0.34590	0.089;0.186	T	0.08576	-1.0715	10	0.56958	D	0.05	-0.8758	15.4604	0.75353	0.0:0.0:0.0:1.0	.	25;25	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	T	25	ENSP00000365530:I25T;ENSP00000385944:I25T;ENSP00000391087:I25T	ENSP00000365530:I25T	I	+	2	0	STXBP4	50423211	1.000000	0.71417	0.008000	0.14137	0.796000	0.44982	7.093000	0.76937	2.243000	0.73865	0.533000	0.62120	ATT		0.393	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		17	313	0	0	0	0.010504	0	17	313				
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:56270730A>T	ENST00000225371.5	+	3	280		c.e3-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.?(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TCTCCTGGGCAGCATCAAGCA	0.637																																							uc002ivq.2		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e3-2		eosinophil peroxidase preproprotein							91.0	93.0	92.0					17																	56270730		2203	4300	6503	SO:0001630	splice_region_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270730A>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.171-1A>T	17.37:g.56270730A>T							p.S57_splice	NM_000502	NP_000493	P11678	PERE_HUMAN			3	257	+								Q4TVP3	Splice_Site	SNP	ENST00000225371.5	37	c.171_splice	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	A	7.476	0.647766	0.14516	.	.	ENSG00000121053	ENST00000225371	.	.	.	4.86	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4847	0.27425	0.8993:0.0:0.1007:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPX	53625729	1.000000	0.71417	0.932000	0.37286	0.076000	0.17211	6.704000	0.74639	0.807000	0.34208	0.448000	0.29417	.		0.637	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	Intron	44	251	0	0	0	0.00361	0	44	251				
PPM1E	22843	broad.mit.edu	37	17	57043137	57043137	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:57043137C>A	ENST00000308249.2	+	3	795	c.666C>A	c.(664-666)ctC>ctA	p.L222L	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACTTCCCCCTCCGCAGGAGAC	0.453																																							uc002iwx.2		NA																	0				breast(3)|lung(1)|skin(1)	5						c.(664-666)CTC>CTA		protein phosphatase 1E							134.0	140.0	138.0					17																	57043137		2203	4300	6503	SO:0001819	synonymous_variant	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57043137C>A	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.666C>A	17.37:g.57043137C>A						PPM1E_uc010ddd.2_Intron	p.L222L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		3	793	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		231		L -> S (in a breast cancer sample; somatic mutation).			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	c.666C>A	CCDS11613.1																																																																																				0.453	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		7	287	1	0	0.00448238	0.004482	0.00470454	7	287				
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:59760806T>C	ENST00000259008.2	-	20	3868	c.3601A>G	c.(3601-3603)Att>Gtt	p.I1201V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I1201V(4)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTTCAATATGCAGAATT	0.303			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(3601-3603)ATT>GTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							72.0	67.0	69.0					17																	59760806		2203	4297	6500	SO:0001583	missense	83990	FanconAnemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59760806T>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3601A>G	17.37:g.59760806T>C	ENSP00000259008:p.Ile1201Val						p.I1201V	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			20	3742	-			1201					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3601A>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	8.791	0.930570	0.18131	.	.	ENSG00000136492	ENST00000259008	T	0.73575	-0.76	5.18	2.97	0.34412	.	1.353600	0.04787	N	0.430918	T	0.59985	0.2234	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.44112	-0.9349	9	.	.	.	-0.6715	6.9191	0.24378	0.0:0.1859:0.0:0.8141	.	1201	Q9BX63	FANCJ_HUMAN	V	1201	ENSP00000259008:I1201V	.	I	-	1	0	BRIP1	57115588	0.000000	0.05858	0.010000	0.14722	0.889000	0.51656	-0.115000	0.10741	0.810000	0.34279	0.460000	0.39030	ATT		0.303	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		50	83	0	0	0	0.00361	0	50	83				
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:59962347G>A	ENST00000444766.3	-	16	2103	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	INTS2_ENST00000251334.6_Silent_p.P668P	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.P676P(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AATATGATTTGGGCTTTCTTT	0.353																																							uc002izn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)|pancreas(1)	3						c.(2026-2028)CCC>CCT		integrator complex subunit 2							57.0	53.0	54.0					17																	59962347		1821	4089	5910	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59962347G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2028C>T	17.37:g.59962347G>A						INTS2_uc002izm.2_Silent_p.P668P	p.P676P	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			16	2104	-			676					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.2028C>T	CCDS45750.1																																																																																				0.353	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		12	39	0	0	0	0.00245	0	12	39				
TBC1D3P2	440452	broad.mit.edu	37	17	60351433	60351433	+	3'UTR	SNP	C	C	A	rs200110677	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:60351433C>A	ENST00000602932.1	-	0	258				TBC1D3P2_ENST00000581291.1_RNA																							GATGTCCTCTCGCTCTTGTGC	0.527													.|||	796	0.158946	0.1838	0.1628	5008	,	,		20234	0.0288		0.2704	False		,,,				2504	0.1421						uc002izq.2		NA																	0					0						c.(43-45)CGA>CTA		SubName: Full=Putative uncharacterized protein TBC1D3E;																																				SO:0001624	3_prime_UTR_variant	440452							g.chr17:60351433C>A																												ENST00000602932.1:c.*18G>T	17.37:g.60351433C>A						TBC1D3P2_uc010woz.1_RNA	p.R15L							2	156	-									Missense_Mutation	SNP	ENST00000602932.1	37	c.44G>T		.	.	.	.	.	.	.	.	.	.	.	1.137	-0.650599	0.03506	.	.	ENSG00000188755	ENST00000339120	.	.	.	.	.	.	.	0.247775	0.30126	U	0.010344	T	0.65176	0.2666	.	.	.	.	.	.	D	0.69078	0.997	D	0.65987	0.94	T	0.72161	-0.4374	5	0.87932	D	0	.	.	.	.	.	15	F8WD16	.	L	15	.	ENSP00000339793:R15L	R	-	2	0	AC053481.1	57706215	0.808000	0.29022	0.142000	0.22268	0.143000	0.21401	-0.046000	0.11983	0.064000	0.16427	0.064000	0.15345	CGA		0.527	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			10	247	1	0	7.93312e-07	0.00245	9.0953e-07	10	247				
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:62018710C>G	ENST00000435607.1	-	24	5008	c.4932G>C	c.(4930-4932)gtG>gtC	p.V1644V	SCN4A_ENST00000578147.1_Silent_p.V1644V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1644					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1644V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAGGGTGTCCACGAAGTCTG	0.567																																							uc002jds.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(4930-4932)GTG>GTC		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						57.0	62.0	61.0					17																	62018710		2101	4238	6339	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018710C>G	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4932G>C	17.37:g.62018710C>G							p.V1644V	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	5009	-			1644					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.4932G>C	CCDS45761.1																																																																																				0.567	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		15	47	0	0	0	0.00499	0	15	47				
TEX2	55852	broad.mit.edu	37	17	62272302	62272302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:62272302C>A	ENST00000583097.1	-	3	1970	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	TEX2_ENST00000258991.3_Nonsense_Mutation_p.E600*|TEX2_ENST00000584379.1_Nonsense_Mutation_p.E600*			Q8IWB9	TEX2_HUMAN	testis expressed 2	600					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.E600*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGGTGACCTCTGGCTTGGGT	0.443																																							uc002jec.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1798-1800)GAG>TAG		testis expressed sequence 2							174.0	154.0	161.0					17																	62272302		2203	4300	6503	SO:0001587	stop_gained	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62272302C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1798G>T	17.37:g.62272302C>A	ENSP00000462665:p.Glu600*					TEX2_uc002jed.2_Nonsense_Mutation_p.E600*|TEX2_uc002jee.2_Nonsense_Mutation_p.E600*	p.E600*	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	3	1971	-			600					Q6AHZ5|Q8N3L0|Q9C0C5	Nonsense_Mutation	SNP	ENST00000583097.1	37	c.1798G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.220300	0.99105	.	.	ENSG00000136478	ENST00000258991	.	.	.	6.07	6.07	0.98685	.	0.102433	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-23.4033	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	600	.	ENSP00000258991:E600X	E	-	1	0	TEX2	59626034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.381000	0.79718	2.885000	0.99019	0.655000	0.94253	GAG		0.443	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		42	114	1	0	1.56989e-16	0.00361	2.15163e-16	42	114				
PITPNC1	26207	broad.mit.edu	37	17	65688809	65688809	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:65688809C>A	ENST00000581322.1	+	9	804	c.804C>A	c.(802-804)gtC>gtA	p.V268V	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000335257.6_Silent_p.V268V|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTTCTTCCGTCCGCAGTGCGC	0.552																																							uc002jgc.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(802-804)GTC>GTA		phosphatidylinositol transfer protein,							120.0	126.0	124.0					17																	65688809		1986	4161	6147	SO:0001819	synonymous_variant	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688809C>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.804C>A	17.37:g.65688809C>A						PITPNC1_uc002jgb.2_3'UTR	p.V268V	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1151	+	all_cancers(12;3.03e-10)		268					A8K473|J3QR20|Q96I07	Silent	SNP	ENST00000581322.1	37	c.804C>A	CCDS58588.1																																																																																				0.552	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		8	266	1	0	0.000274275	0.004482	0.000298005	8	266				
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67039769C>A	ENST00000340001.4	-	6	872	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	ABCA9_ENST00000495634.1_Missense_Mutation_p.V221F|ABCA9_ENST00000453985.2_Missense_Mutation_p.V221F|ABCA9_ENST00000370732.2_Missense_Mutation_p.V221F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	221					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCAGTTGCAACTCCTCCTTGG	0.328																																							uc002jhu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(661-663)GTT>TTT		ATP-binding cassette, sub-family A, member 9							91.0	90.0	91.0					17																	67039769		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67039769C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.661G>T	17.37:g.67039769C>A	ENSP00000342216:p.Val221Phe					ABCA9_uc010dez.2_Missense_Mutation_p.V221F|ABCA9_uc002jhv.2_Missense_Mutation_p.V221F	p.V221F	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			6	804	-	Breast(10;1.47e-12)		221			Helical; (Potential).		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.661G>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	4.215	0.038727	0.08148	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87029	-2.2;-2.2	4.73	-9.47	0.00594	.	0.810184	0.10235	N	0.699180	T	0.71134	0.3304	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.11235	0.004;0.0	B;B	0.12837	0.008;0.004	T	0.56679	-0.7939	10	0.10636	T	0.68	.	8.2234	0.31554	0.0:0.2118:0.2818:0.5064	.	221;221	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	F	221;204;221;216	ENSP00000342216:V221F;ENSP00000359767:V221F	ENSP00000342216:V221F	V	-	1	0	ABCA9	64551364	0.000000	0.05858	0.001000	0.08648	0.972000	0.66771	-2.356000	0.01087	-1.976000	0.00996	-1.191000	0.01696	GTT		0.328	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		31	227	1	0	2.1956e-27	0.004289	3.38749e-27	31	227				
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67151277C>A	ENST00000269081.4	-	31	4486	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1193					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1193*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGACTGGTTCCTGGAAAACA	0.323																																							uc010dfa.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3577-3579)GAA>TAA		ATP-binding cassette, sub-family A, member 10							85.0	82.0	83.0					17																	67151277		2203	4297	6500	SO:0001630	splice_region_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67151277C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3577-1G>T	17.37:g.67151277C>A						ABCA10_uc010wqs.1_Nonsense_Mutation_p.E185*|ABCA10_uc010wqt.1_RNA	p.E1193*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			31	4456	-	Breast(10;6.95e-12)		1193					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	c.3577G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	45	11.856103	0.99610	.	.	ENSG00000154263	ENST00000269081	.	.	.	3.24	2.03	0.26663	.	0.213012	0.22676	U	0.057019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7652	0.28976	0.0:0.1968:0.0:0.8032	.	.	.	.	X	1193	.	ENSP00000269081:E1193X	E	-	1	0	ABCA10	64662872	0.957000	0.32711	0.960000	0.40013	0.046000	0.14306	1.563000	0.36364	0.420000	0.25954	-0.455000	0.05494	GAA		0.323	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	Nonsense_Mutation	32	74	1	0	1.61004e-24	0.00361	2.42855e-24	32	74				
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:76047196G>A	ENST00000588061.1	+	5	2780	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	TNRC6C_ENST00000301624.4_Missense_Mutation_p.V685M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000335749.4_Missense_Mutation_p.V685M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V685M			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	685	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V685M(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCTTCTGTGAAACAGAC	0.552																																							uc002jud.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(2053-2055)GTG>ATG		trinucleotide repeat containing 6C isoform 2							27.0	29.0	28.0					17																	76047196		1900	4096	5996	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047196G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2053G>A	17.37:g.76047196G>A	ENSP00000468647:p.Val685Met					TNRC6C_uc002juf.2_Missense_Mutation_p.V685M|TNRC6C_uc002jue.2_Missense_Mutation_p.V685M	p.V685M	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	2653	+			685			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.2053G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115916	0.77323	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15834	2.39;2.4;2.4;2.39	6.08	6.08	0.98989	.	0.243074	0.41194	D	0.000927	T	0.40372	0.1114	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.993;0.997;0.998	P;P;D	0.65443	0.861;0.861;0.935	T	0.00961	-1.1499	10	0.46703	T	0.11	-7.6181	20.6634	0.99662	0.0:0.0:1.0:0.0	.	685;685;685	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	M	685	ENSP00000336783:V685M;ENSP00000301624:V685M;ENSP00000440310:V685M;ENSP00000442421:V685M	ENSP00000301624:V685M	V	+	1	0	TNRC6C	73558791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.880000	0.87243	2.894000	0.99253	0.655000	0.94253	GTG		0.552	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	22	0	0	0	0.000978	0	9	22				
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:76113395C>A	ENST00000590602.1	-	18	2391	c.2232G>T	c.(2230-2232)cgG>cgT	p.R744R	TMC6_ENST00000322914.3_Silent_p.R744R|TMC6_ENST00000591436.1_Silent_p.R323R|TMC6_ENST00000392467.3_Silent_p.R744R|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.R323R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.R744R(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCGCTGGCCCCGCACCACCT	0.682																																							uc002juj.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2230-2232)CGG>CGT		transmembrane channel-like 6							70.0	73.0	72.0					17																	76113395		2203	4300	6503	SO:0001819	synonymous_variant	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76113395C>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2232G>T	17.37:g.76113395C>A						TMC6_uc002jui.1_Silent_p.R323R|TMC6_uc010dhf.1_Silent_p.R577R|TMC6_uc002juk.2_Silent_p.R744R|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.R744R	p.R744R	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		17	2358	-			744			Lumenal (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.2232G>T	CCDS32748.1																																																																																				0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			9	17	1	0	3.03607e-14	0.001368	3.98415e-14	9	17				
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:2566948G>A	ENST00000574538.1	-	2	1043	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL4_ENST00000319888.6_Missense_Mutation_p.P90S	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.P90S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAGTTCAGGTCGAAAAACA	0.368																																							uc002klh.3		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)|skin(1)	2						c.(268-270)CCT>TCT		methyltransferase like 4							92.0	86.0	88.0					18																	2566948		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2566948G>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.268C>T	18.37:g.2566948G>A	ENSP00000458290:p.Pro90Ser						p.P90S	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN			2	1048	-			90					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.268C>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103211	0.20632	.	.	ENSG00000101574	ENST00000319888	T	0.20200	2.09	5.56	-6.48	0.01896	.	0.750628	0.12578	N	0.456665	T	0.05686	0.0149	N	0.02736	-0.51	0.21915	N	0.999471	B	0.02656	0.0	B	0.04013	0.001	T	0.43212	-0.9405	10	0.10636	T	0.68	-0.278	8.608	0.33784	0.1781:0.458:0.3639:0.0	.	90	Q8N3J2	METL4_HUMAN	S	90	ENSP00000320349:P90S	ENSP00000320349:P90S	P	-	1	0	METTL4	2556948	0.991000	0.36638	0.951000	0.38953	0.984000	0.73092	0.072000	0.14617	-0.688000	0.05155	0.655000	0.94253	CCT		0.368	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		50	219	0	0	0	0.00361	0	50	219				
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	G	T	rs150535335		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:2891215G>T	ENST00000254528.3	+	4	1249	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	364					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.G364*(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGCTACCTGGGAGTGATAGA	0.522																																							uc002kln.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1090-1092)GGA>TGA		elastin microfibril interfacer 2 precursor							62.0	67.0	66.0					18																	2891215		2203	4300	6503	SO:0001587	stop_gained	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891215G>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1090G>T	18.37:g.2891215G>T	ENSP00000254528:p.Gly364*						p.G364*	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1249	+			364					B2RMY3|Q8NBH3|Q96JQ4	Nonsense_Mutation	SNP	ENST00000254528.3	37	c.1090G>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444383	0.96187	.	.	ENSG00000132205	ENST00000254528	.	.	.	5.41	5.41	0.78517	.	0.081535	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-25.8533	19.2047	0.93724	0.0:0.0:1.0:0.0	.	.	.	.	X	364	.	ENSP00000254528:G364X	G	+	1	0	EMILIN2	2881215	1.000000	0.71417	0.989000	0.46669	0.851000	0.48451	5.185000	0.65076	2.521000	0.84997	0.557000	0.71058	GGA		0.522	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		12	39	1	0	0.000219431	0.00245	0.000239864	12	39				
NPC1	4864	broad.mit.edu	37	18	21140248	21140248	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:21140248G>A	ENST00000269228.5	-	6	1382	c.828C>T	c.(826-828)taC>taT	p.Y276Y	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.Y9Y	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	276					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.Y276Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACGCCATGTAGGTGATCC	0.507																																							uc002kum.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(826-828)TAC>TAT		Niemann-Pick disease, type C1 precursor							107.0	98.0	101.0					18																	21140248		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21140248G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.828C>T	18.37:g.21140248G>A						NPC1_uc010xaz.1_Silent_p.Y60Y|NPC1_uc010xba.1_Silent_p.Y121Y	p.Y276Y	NM_000271	NP_000262	O15118	NPC1_HUMAN			6	1102	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		276			Helical; (Potential).		B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.828C>T	CCDS11878.1																																																																																				0.507	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		12	207	0	0	0	0.001855	0	12	207				
SETBP1	26040	broad.mit.edu	37	18	42533086	42533086	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:42533086A>G	ENST00000282030.5	+	4	4077	c.3781A>G	c.(3781-3783)Aaa>Gaa	p.K1261E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1261						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1261E(1)|p.K1207E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCATGCACGAAAAGATACTC	0.537									Schinzel-Giedion syndrome																														uc010dni.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3781-3783)AAA>GAA		SET binding protein 1 isoform a							94.0	85.0	88.0					18																	42533086		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42533086A>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3781A>G	18.37:g.42533086A>G	ENSP00000282030:p.Lys1261Glu						p.K1261E	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	4077	+			1261					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3781A>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426725	0.83667	.	.	ENSG00000152217	ENST00000282030	T	0.70282	-0.47	6.17	6.17	0.99709	.	0.049927	0.85682	D	0.000000	T	0.68007	0.2954	L	0.29908	0.895	0.32501	N	0.538854	D	0.56035	0.974	P	0.50659	0.647	T	0.70382	-0.4887	10	0.21014	T	0.42	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1261	Q9Y6X0	SETBP_HUMAN	E	1261	ENSP00000282030:K1261E	ENSP00000282030:K1261E	K	+	1	0	SETBP1	40787084	0.997000	0.39634	0.728000	0.30774	0.930000	0.56654	3.880000	0.56145	2.371000	0.80710	0.533000	0.62120	AAA		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	95	0	0	0	0.001984	0	4	95				
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:42533120G>C	ENST00000282030.5	+	4	4111	c.3815G>C	c.(3814-3816)aGc>aCc	p.S1272T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1272						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1218T(2)|p.S1272T(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGGTGGCAGCACGAGATCA	0.532									Schinzel-Giedion syndrome																														uc010dni.2		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3814-3816)AGC>ACC		SET binding protein 1 isoform a							103.0	91.0	95.0					18																	42533120		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42533120G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3815G>C	18.37:g.42533120G>C	ENSP00000282030:p.Ser1272Thr						p.S1272T	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	4111	+			1272					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3815G>C	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663215	0.47572	.	.	ENSG00000152217	ENST00000282030	T	0.69806	-0.43	6.17	4.37	0.52481	.	0.280602	0.40144	N	0.001169	T	0.47116	0.1428	N	0.14661	0.345	0.24190	N	0.995557	B	0.24043	0.096	B	0.23852	0.049	T	0.37596	-0.9699	10	0.37606	T	0.19	.	9.6091	0.39652	0.2733:0.0:0.7267:0.0	.	1272	Q9Y6X0	SETBP_HUMAN	T	1272	ENSP00000282030:S1272T	ENSP00000282030:S1272T	S	+	2	0	SETBP1	40787118	0.243000	0.23878	0.784000	0.31847	0.980000	0.70556	0.958000	0.29227	1.616000	0.50265	0.655000	0.94253	AGC		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		33	105	0	0	0	0.002836	0	33	105				
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I|MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612																																							uc002lev.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)	6						c.(310-312)GTC>ATC		mitogen-activated protein kinase 4							78.0	79.0	79.0					18																	48190638		2199	4295	6494	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190638G>A	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.310G>A	18.37:g.48190638G>A	ENSP00000383234:p.Val104Ile					MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.V104I	p.V104I	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1310	+		Colorectal(6;0.0297)	104			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.310G>A	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716184	0.48622	.	.	ENSG00000141639	ENST00000400384	T	0.67523	-0.27	5.87	1.09	0.20402	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184523	0.36234	N	0.002712	T	0.55847	0.1946	L	0.43646	1.37	0.45066	D	0.998089	B;B	0.21821	0.061;0.061	B;B	0.26693	0.072;0.072	T	0.46582	-0.9181	10	0.45353	T	0.12	-3.6853	9.7936	0.40722	0.4235:0.0:0.5765:0.0	.	104;104	Q0VG04;P31152	.;MK04_HUMAN	I	104	ENSP00000383234:V104I	ENSP00000383234:V104I	V	+	1	0	MAPK4	46444636	0.972000	0.33761	0.987000	0.45799	0.985000	0.73830	1.677000	0.37576	-0.080000	0.12685	-0.254000	0.11334	GTC		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		19	200	0	0	0	0.008871	0	19	200				
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000581580.1_Missense_Mutation_p.R101H|DCC_ENST00000412726.1_Missense_Mutation_p.R294H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	446	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0						uc002lfe.1		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1336-1338)CGT>CAT		netrin receptor DCC precursor		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	154.0	140.0	145.0		1337	5.4	1.0	18	dbSNP_134	145	0,8600		0,0,4300	no	missense	DCC	NM_005215.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	446/1448	50683801	1,13005	2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50683801G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1337G>A	18.37:g.50683801G>A	ENSP00000389140:p.Arg446His					DCC_uc010xdr.1_Missense_Mutation_p.R294H|DCC_uc010dpf.1_Missense_Mutation_p.R101H	p.R446H	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	8	1924	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	446			Extracellular (Potential).|Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1337G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145814	0.57044	2.27E-4	0.0	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57273	0.41;0.41	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.69691	0.3139	L	0.57536	1.79	0.51482	D	0.999926	B;P;D	0.71674	0.393;0.717;0.998	B;B;D	0.71184	0.089;0.205;0.972	T	0.71431	-0.4595	10	0.66056	D	0.02	.	18.0448	0.89329	0.0:0.0:1.0:0.0	.	294;294;446	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	446;379;294	ENSP00000389140:R446H;ENSP00000397322:R294H	ENSP00000304146:R379H	R	+	2	0	DCC	48937799	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	8.879000	0.92398	2.567000	0.86603	0.561000	0.74099	CGT		0.517	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		13	521	0	0	0	0.00245	0	13	521				
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56203934G>T	ENST00000361673.3	-	5	3698	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1162						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A523D(2)|p.A1162D(2)		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						CTCTTGTGCAGCAGATGTCGT	0.577																																							uc002lhj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3484-3486)GCT>GAT		heart alpha-kinase							95.0	88.0	91.0					18																	56203934		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203934G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3485C>A	18.37:g.56203934G>T	ENSP00000354991:p.Ala1162Asp					ALPK2_uc002lhk.1_Missense_Mutation_p.A493D	p.A1162D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	3699	-			1162					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3485C>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956062	0.53293	.	.	ENSG00000198796	ENST00000361673	T	0.55052	0.54	5.24	-1.33	0.09172	.	1.404940	0.04158	N	0.322444	T	0.39963	0.1098	L	0.38175	1.15	0.09310	N	1	B;B	0.32203	0.192;0.36	B;B	0.27796	0.063;0.083	T	0.32798	-0.9893	10	0.56958	D	0.05	-0.1948	5.8913	0.18915	0.2193:0.0:0.6599:0.1208	.	1157;1162	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	D	1162	ENSP00000354991:A1162D	ENSP00000354991:A1162D	A	-	2	0	ALPK2	54354914	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.182000	0.09726	-0.274000	0.09232	0.609000	0.83330	GCT		0.577	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		21	76	1	0	2.81731e-10	0.002096	3.44197e-10	21	76				
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	G	C	rs188840779		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56247124G>C	ENST00000361673.3	-	4	1097	c.884C>G	c.(883-885)cCc>cGc	p.P295R	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	295						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P295R(2)		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						CTGTGGGCTGGGTTGTTTGTT	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lhj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(883-885)CCC>CGC		heart alpha-kinase							85.0	83.0	84.0					18																	56247124		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247124G>C	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.884C>G	18.37:g.56247124G>C	ENSP00000354991:p.Pro295Arg		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.P295R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1098	-			295					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.884C>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	8.462	0.855626	0.17106	.	.	ENSG00000198796	ENST00000361673	T	0.45668	0.89	3.81	-7.62	0.01294	.	2.987180	0.01480	N	0.016621	T	0.20981	0.0505	L	0.34521	1.04	0.09310	N	1	P	0.39964	0.697	B	0.29353	0.101	T	0.27434	-1.0074	10	0.25751	T	0.34	6.337	2.9146	0.05748	0.2083:0.4049:0.2805:0.1063	.	295	Q86TB3	ALPK2_HUMAN	R	295	ENSP00000354991:P295R	ENSP00000354991:P295R	P	-	2	0	ALPK2	54398104	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.240000	0.08952	-1.882000	0.01122	-1.098000	0.02139	CCC		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	111	0	0	0	0.001984	0	6	111				
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:59942667T>A	ENST00000398130.2	+	22	3160	c.2928T>A	c.(2926-2928)acT>acA	p.T976T	KIAA1468_ENST00000256858.6_Silent_p.T1010T	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	976								p.T976T(2)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTCCATACTTCAGCACTCG	0.363																																							uc002lil.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(2926-2928)ACT>ACA		hypothetical protein LOC57614							153.0	135.0	141.0					18																	59942667		2203	4300	6503	SO:0001819	synonymous_variant	57614						binding	g.chr18:59942667T>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2928T>A	18.37:g.59942667T>A						KIAA1468_uc002lik.1_Silent_p.T972T|KIAA1468_uc010xel.1_Silent_p.T976T|KIAA1468_uc002lim.2_Silent_p.T654T	p.T976T	NM_020854	NP_065905	Q9P260	K1468_HUMAN			22	3143	+		Colorectal(73;0.186)	976						Silent	SNP	ENST00000398130.2	37	c.2928T>A	CCDS11979.2																																																																																				0.363	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		39	102	0	0	0	0.00361	0	39	102				
SERPINB12	89777	broad.mit.edu	37	18	61231212	61231212	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:61231212T>A	ENST00000269491.1	+	5	504	c.504T>A	c.(502-504)ggT>ggA	p.G168G	SERPINB12_ENST00000382768.1_Splice_Site_p.G188G	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	168					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTTTTAGGTAAAATCAAGG	0.353																																							uc010xen.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(502-504)GGT>GGA		serine (or cysteine) proteinase inhibitor, clade							124.0	118.0	120.0					18																	61231212		2203	4300	6503	SO:0001630	splice_region_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61231212T>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.503-1T>A	18.37:g.61231212T>A						SERPINB12_uc010xeo.1_Silent_p.G188G	p.G168G	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			5	504	+			168					Q3SYB4	Silent	SNP	ENST00000269491.1	37	c.504T>A	CCDS11984.1																																																																																				0.353	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	Silent	32	429	0	0	0	0.007835	0	32	429				
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:66564585G>C	ENST00000360242.5	+	6	1300	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	RP11-861L17.3_ENST00000584226.1_5'Flank|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395H|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395H|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395H	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408																																							uc002lkk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1183-1185)GAT>CAT		coiled-coil domain containing 102B							126.0	141.0	136.0					18																	66564585		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66564585G>C	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1183G>C	18.37:g.66564585G>C	ENSP00000353377:p.Asp395His					CCDC102B_uc002lki.2_Missense_Mutation_p.D395H|CCDC102B_uc002lkj.1_Missense_Mutation_p.D395H	p.D395H	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			8	1406	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	395			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1183G>C	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	2.291	-0.362433	0.05103	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.17854	2.75;2.25;2.75	5.43	1.26	0.21427	.	0.882616	0.09866	N	0.745612	T	0.13756	0.0333	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.21071	0.051;0.051	B;B	0.19391	0.025;0.025	T	0.33007	-0.9885	10	0.44086	T	0.13	0.0046	4.5095	0.11905	0.2774:0.3057:0.4169:0.0	.	395;395	Q68D86-3;Q68D86	.;C102B_HUMAN	H	395	ENSP00000316237:D395H;ENSP00000351479:D395H;ENSP00000353377:D395H	ENSP00000316237:D395H	D	+	1	0	CCDC102B	64715565	1.000000	0.71417	0.013000	0.15412	0.323000	0.28346	1.673000	0.37534	-0.055000	0.13244	0.561000	0.74099	GAT		0.408	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		8	104	0	0	0	0.004482	0	8	104				
RTTN	25914	broad.mit.edu	37	18	67718658	67718658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:67718658G>A	ENST00000255674.6	-	39	5598	c.5312C>T	c.(5311-5313)aCa>aTa	p.T1771I	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1771					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.T1771I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATCGCCGCTGTCCAGTGCTT	0.453																																							uc002lkp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(5311-5313)ACA>ATA		rotatin							104.0	93.0	96.0					18																	67718658		1902	4130	6032	SO:0001583	missense	25914						binding	g.chr18:67718658G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5312C>T	18.37:g.67718658G>A	ENSP00000255674:p.Thr1771Ile					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.T859I|RTTN_uc010dqp.2_Missense_Mutation_p.T23I	p.T1771I	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			39	5380	-		Esophageal squamous(42;0.129)	1771					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.5312C>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	3.451	-0.111951	0.06881	.	.	ENSG00000176225	ENST00000255674	T	0.54071	0.59	5.42	2.6	0.31112	.	0.940169	0.09063	N	0.853941	T	0.33644	0.0870	N	0.14661	0.345	0.09310	N	0.999999	B	0.23540	0.087	B	0.23852	0.049	T	0.26395	-1.0104	10	0.36615	T	0.2	.	5.7281	0.18024	0.166:0.0:0.6734:0.1606	.	1771	Q86VV8	RTTN_HUMAN	I	1771	ENSP00000255674:T1771I	ENSP00000255674:T1771I	T	-	2	0	RTTN	65869638	0.008000	0.16893	0.126000	0.21872	0.114000	0.19823	0.903000	0.28475	0.244000	0.21351	-0.145000	0.13849	ACA		0.453	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		13	429	0	0	0	0.008871	0	13	429				
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:70423369G>T	ENST00000327305.6	-	8	1539	c.882C>A	c.(880-882)ggC>ggA	p.G294G	NETO1_ENST00000299430.2_Silent_p.G293G|NETO1_ENST00000583169.1_Silent_p.G294G	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	294	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.G294G(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATGTGTTGCCTTCACAAG	0.343																																							uc002lkw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(880-882)GGC>GGA		neuropilin- and tolloid-like protein 1 isoform 3							92.0	88.0	89.0					18																	70423369		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70423369G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.882C>A	18.37:g.70423369G>T						NETO1_uc002lkx.1_Silent_p.G293G|NETO1_uc002lky.1_Silent_p.G294G	p.G294G	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	8	1166	-		Esophageal squamous(42;0.129)	294			LDL-receptor class A.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.882C>A	CCDS12000.1																																																																																				0.343	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		90	298	1	0	8.2166e-39	0.00361	1.36732e-38	90	298				
ZNF236	7776	broad.mit.edu	37	18	74617253	74617253	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:74617253G>T	ENST00000253159.8	+	13	2371	c.2173G>T	c.(2173-2175)Ggt>Tgt	p.G725C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G727C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	725					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G725C(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTTCACTACTGGTGGCAGCTT	0.438																																							uc002lmi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2173-2175)GGT>TGT		zinc finger protein 236							56.0	58.0	57.0					18																	74617253		1921	4132	6053	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74617253G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2173G>T	18.37:g.74617253G>T	ENSP00000253159:p.Gly725Cys					ZNF236_uc002lmj.2_RNA	p.G725C	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	13	2371	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	725			C2H2-type 16.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2173G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802073	0.50315	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.07800	3.16;3.16	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054976	0.64402	D	0.000001	T	0.16727	0.0402	N	0.17474	0.49	0.49582	D	0.999805	D	0.89917	1.0	D	0.68192	0.956	T	0.08269	-1.0730	10	0.45353	T	0.12	.	19.5117	0.95144	0.0:0.0:1.0:0.0	.	725	Q9UL36	ZN236_HUMAN	C	725	ENSP00000253159:G725C;ENSP00000444524:G725C	ENSP00000253159:G725C	G	+	1	0	ZNF236	72746241	1.000000	0.71417	0.144000	0.22314	0.305000	0.27757	6.050000	0.71063	2.687000	0.91594	0.462000	0.41574	GGT		0.438	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			4	63	1	0	3.59834e-05	0.001168	3.98177e-05	4	63				
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:74672732C>G	ENST00000253159.8	+	30	5532	c.5334C>G	c.(5332-5334)taC>taG	p.Y1778*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Y1780*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y1778*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGGCCCTACAAGTGTGCCT	0.587																																							uc002lmi.2		NA																	3	Substitution - Nonsense(3)		lung(2)|ovary(1)	ovary(4)	4						c.(5332-5334)TAC>TAG		zinc finger protein 236							61.0	66.0	65.0					18																	74672732		2091	4228	6319	SO:0001587	stop_gained	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74672732C>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5334C>G	18.37:g.74672732C>G	ENSP00000253159:p.Tyr1778*					ZNF236_uc002lmj.2_RNA	p.Y1778*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	30	5532	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1778			C2H2-type 30.		B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	c.5334C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	45	11.649290	0.99587	.	.	ENSG00000130856	ENST00000253159	.	.	.	5.61	4.75	0.60458	.	0.073375	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0757	0.48030	0.0:0.8406:0.0:0.1594	.	.	.	.	X	1778	.	ENSP00000253159:Y1778X	Y	+	3	2	ZNF236	72801720	1.000000	0.71417	0.007000	0.13788	0.991000	0.79684	2.510000	0.45468	1.385000	0.46445	0.655000	0.94253	TAC		0.587	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			4	95	0	0	0	0.000602	0	4	95				
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:9047921G>T	ENST00000397910.4	-	5	33913	c.33710C>A	c.(33709-33711)tCa>tAa	p.S11237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11239	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6870*(2)|p.S11237*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGACCCATGAGTCTATGGT	0.483																																							uc002mkp.2		NA																	4	Substitution - Nonsense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33709-33711)TCA>TAA		mucin 16							62.0	56.0	58.0					19																	9047921		1912	4117	6029	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047921G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33710C>A	19.37:g.9047921G>T	ENSP00000381008:p.Ser11237*						p.S11237*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33914	-			11239			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.33710C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	61	51.879443	0.99988	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.21	0.874	0.19124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.006	0.30325	0.0:0.0:0.5913:0.4087	.	.	.	.	X	11237	.	ENSP00000381008:S11237X	S	-	2	0	MUC16	8908921	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.156000	0.16382	0.300000	0.22699	0.586000	0.80456	TCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	211	1	0	6.60958e-23	0.00361	9.80542e-23	49	211				
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:10822872G>C	ENST00000250237.5	+	6	692	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617																																							uc002mpr.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(682-684)GGG>CGG		queuine tRNA-ribosyltransferase 1																																				SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10822872G>C	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.682G>C	19.37:g.10822872G>C	ENSP00000250237:p.Gly228Arg					DNM2_uc010dxk.2_5'Flank	p.G228R	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		6	707	+			228					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.682G>C	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365202	0.82463	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.01	4.01	0.46588	.	0.000000	0.85682	U	0.000000	D	0.87720	0.6248	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92233	0.5794	9	0.87932	D	0	-0.38	15.0488	0.71850	0.0:0.0:1.0:0.0	.	228	Q9BXR0	TGT_HUMAN	R	228	.	ENSP00000250237:G228R	G	+	1	0	QTRT1	10683872	1.000000	0.71417	0.989000	0.46669	0.749000	0.42624	8.755000	0.91646	2.079000	0.62486	0.462000	0.41574	GGG		0.617	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		10	13	0	0	0	0.00245	0	10	13				
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:14153294G>T	ENST00000263379.2	+	5	689	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	188	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.L188L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCATACCCCTGACCCCTGTTG	0.547											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)	Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(562-564)CTG>CTT		class I cytokine receptor precursor							112.0	118.0	116.0					19																	14153294		2203	4300	6503	SO:0001819	synonymous_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14153294G>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.564G>T	19.37:g.14153294G>T			OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.L188L	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			5	987	+			188			Extracellular (Potential).|Fibronectin type-III 1.		A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	c.564G>T	CCDS12303.1																																																																																				0.547	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		23	71	1	0	4.26978e-12	0.00333	5.41239e-12	23	71				
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:15759996G>T	ENST00000221307.8	+	6	599	c.552G>T	c.(550-552)gaG>gaT	p.E184D	CYP4F3_ENST00000586182.2_Missense_Mutation_p.E184D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E184D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	184				EGS -> KGY (in Ref. 3; AAC08589). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCTCAGAGGGTAGTGCCC	0.557																																							uc002nbj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(550-552)GAG>GAT		cytochrome P450, family 4, subfamily F,							80.0	72.0	75.0					19																	15759996		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15759996G>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.552G>T	19.37:g.15759996G>T	ENSP00000221307:p.Glu184Asp					CYP4F3_uc010xok.1_Missense_Mutation_p.E184D|CYP4F3_uc010xol.1_Missense_Mutation_p.E184D|CYP4F3_uc010xom.1_Missense_Mutation_p.E35D|CYP4F3_uc002nbk.2_Missense_Mutation_p.E184D|CYP4F3_uc010xon.1_5'Flank	p.E184D	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			6	602	+			184	EGS -> KGY (in Ref. 3; AAC08589).				B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.552G>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	13.23	2.175649	0.38413	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.70399	-0.48	3.34	-0.529	0.11901	.	0.382653	0.20671	U	0.087826	T	0.49949	0.1587	L	0.31371	0.925	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.18561	0.022;0.022	T	0.28839	-1.0031	10	0.38643	T	0.18	.	3.2969	0.06969	0.2543:0.0:0.5297:0.2159	.	184;184	B7Z8Z3;Q08477	.;CP4F3_HUMAN	D	111;184	ENSP00000221307:E184D	ENSP00000221307:E184D	E	+	3	2	CYP4F3	15620996	0.271000	0.24162	0.007000	0.13788	0.505000	0.33919	0.126000	0.15769	0.082000	0.17018	0.491000	0.48974	GAG		0.557	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		55	166	1	0	4.10029e-35	0.00361	6.63915e-35	55	166				
CYP4F12	66002	broad.mit.edu	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	A	rs536388045		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:15794437G>A	ENST00000550308.1	+	7	1162	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R261H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	261					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AGGGCCTGCCGCCTGGTGCAT	0.552													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20925	0.0		0.0	False		,,,				2504	0.0						uc002nbl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(781-783)CGC>CAC		cytochrome P450, family 4, subfamily F,							82.0	84.0	83.0					19																	15794437		2198	4295	6493	SO:0001583	missense	66002							g.chr19:15794437G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.782G>A	19.37:g.15794437G>A	ENSP00000448998:p.Arg261His						p.R261H	NM_023944	NP_076433					7	843	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.782G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	3.671	-0.067461	0.07273	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69040	-0.37;-0.37	2.47	-0.991	0.10235	.	0.966802	0.08465	U	0.941844	T	0.55194	0.1905	L	0.46741	1.465	0.19775	N	0.999958	B	0.16396	0.017	B	0.19148	0.024	T	0.45026	-0.9289	10	0.40728	T	0.16	.	6.1319	0.20209	0.6022:0.0:0.3978:0.0	.	261	Q9HCS2	CP4FC_HUMAN	H	261	ENSP00000448998:R261H;ENSP00000321821:R261H	ENSP00000321821:R261H	R	+	2	0	CYP4F12	15655437	0.741000	0.28217	0.859000	0.33776	0.077000	0.17291	0.793000	0.26944	-0.141000	0.11374	-0.320000	0.08662	CGC		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			11	197	0	0	0	0.003163	0	11	197				
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	C	T	rs528877755		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:17373540C>T	ENST00000252597.3	-	4	636	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	USHBP1_ENST00000431146.2_Missense_Mutation_p.G91R|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.G155R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCTCCCCCTTCGCTTGTG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		17243	0.0		0.0	False		,,,				2504	0.001						uc002nfs.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(463-465)GGG>AGG		Usher syndrome 1C binding protein 1							62.0	60.0	61.0					19																	17373540		2203	4299	6502	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373540C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.463G>A	19.37:g.17373540C>T	ENSP00000252597:p.Gly155Arg					USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.G91R|USHBP1_uc010eam.1_Missense_Mutation_p.G83R	p.G155R	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			4	576	-			155						Missense_Mutation	SNP	ENST00000252597.3	37	c.463G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240820	0.39598	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.22743	1.95;1.94	3.85	1.63	0.23807	.	2.053200	0.02679	N	0.109440	T	0.25306	0.0615	L	0.27053	0.805	0.09310	N	1	D;P;D	0.54047	0.964;0.94;0.964	P;B;P	0.55667	0.781;0.166;0.659	T	0.21621	-1.0240	10	0.20519	T	0.43	-9.6273	5.69	0.17825	0.0:0.6835:0.2009:0.1156	.	91;155;155	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	R	155;91;155	ENSP00000252597:G155R;ENSP00000407902:G91R	ENSP00000252597:G155R	G	-	1	0	USHBP1	17234540	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	2.147000	0.42226	0.375000	0.24679	-0.499000	0.04595	GGG		0.687	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		25	10	0	0	0	0.009535	0	25	10				
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:35836516C>A	ENST00000085219.5	+	12	2286	c.2220C>A	c.(2218-2220)gcC>gcA	p.A740A	CD22_ENST00000270311.6_Intron|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000536635.2_Silent_p.A652A|CD22_ENST00000594250.1_Silent_p.A563A|CD22_ENST00000341773.6_Silent_p.A563A|CD22_ENST00000544992.2_Intron|CD22_ENST00000419549.2_Silent_p.A568A	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	740					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.A740A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTAGAAGGGCCCCCCTCTCTG	0.582																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(3)|breast(1)	9						c.(2218-2220)GCC>GCA		CD22 molecule precursor	OspA lipoprotein(DB00045)						101.0	80.0	87.0					19																	35836516		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35836516C>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2220C>A	19.37:g.35836516C>A						CD22_uc010xst.1_Silent_p.A568A|CD22_uc010edu.2_Silent_p.A652A|CD22_uc010edv.2_Intron|CD22_uc002nzb.3_Silent_p.A563A|CD22_uc010edx.2_RNA	p.A740A	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		12	2297	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		740			Cytoplasmic (Potential).		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.2220C>A	CCDS12457.1																																																																																				0.582	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		22	21	1	0	9.90768e-06	0.004656	1.11345e-05	22	21				
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	G	T	rs375916089		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:36044671G>T	ENST00000262623.3	-	17	2570	c.2542C>A	c.(2542-2544)Cgc>Agc	p.R848S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	848					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.R848S(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTTGGGTTGCGTGGACGCAGG	0.607																																							uc002oal.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2542-2544)CGC>AGC		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						114.0	78.0	90.0					19																	36044671		2202	4300	6502	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36044671G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2542C>A	19.37:g.36044671G>T	ENSP00000262623:p.Arg848Ser					ATP4A_uc010eee.1_Missense_Mutation_p.R6S	p.R848S	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		17	2571	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		848			Cytoplasmic (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2542C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830705	0.50845	.	.	ENSG00000105675	ENST00000262623	D	0.97041	-4.22	4.13	4.13	0.48395	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000008	D	0.98713	0.9568	H	0.96015	3.755	0.52099	D	0.999945	D	0.89917	1.0	D	0.97110	1.0	D	0.98847	1.0757	10	0.87932	D	0	.	9.2133	0.37331	0.0:0.0:0.7839:0.2161	.	848	P20648	ATP4A_HUMAN	S	848	ENSP00000262623:R848S	ENSP00000262623:R848S	R	-	1	0	ATP4A	40736511	0.998000	0.40836	1.000000	0.80357	0.616000	0.37450	2.790000	0.47821	2.138000	0.66242	0.313000	0.20887	CGC		0.607	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	16	1	0	1.23904e-05	0.000602	1.38814e-05	4	16				
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Start_Codon_SNP	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:39989617G>T	ENST00000205143.4	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Start_Codon_SNP_p.M1I	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	1					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)	p.M1I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAAGGCCATGGTCTCCCCAC	0.642																																							uc002olx.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|breast(1)	3						c.(1-3)ATG>ATT		delta-like 3 protein isoform 1 precursor							104.0	87.0	93.0					19																	39989617		2203	4300	6503	SO:0001582	initiator_codon_variant	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39989617G>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.3G>T	19.37:g.39989617G>T	ENSP00000205143:p.Met1Ile					DLL3_uc010egq.2_Missense_Mutation_p.M1I|DLL3_uc002olw.2_Missense_Mutation_p.M1I	p.M1I	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	61	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		1					E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.3G>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960662	0.74016	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.88354	-2.29;-2.37	3.43	3.43	0.39272	.	0.000000	0.43579	D	0.000552	D	0.84969	0.5590	.	.	.	0.26660	N	0.971929	P;P;P	0.35872	0.525;0.525;0.525	B;B;B	0.42214	0.38;0.38;0.38	T	0.76748	-0.2845	8	.	.	.	.	10.5178	0.44900	0.0:0.0:1.0:0.0	.	1;1;1	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	I	1	ENSP00000348810:M1I;ENSP00000205143:M1I	.	M	+	3	0	DLL3	44681457	1.000000	0.71417	0.991000	0.47740	0.452000	0.32318	4.566000	0.60843	1.920000	0.55613	0.561000	0.74099	ATG		0.642	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1		Missense_Mutation	5	28	1	0	0.000602214	0.000602	0.000648446	5	28				
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	G	T	rs575995034		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:40433455G>T	ENST00000221347.6	-	2	821	c.814C>A	c.(814-816)Cag>Aag	p.Q272K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	272	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.Q272K(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTGTGGCCTGGCTGGCCACA	0.602																																							uc002omp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(814-816)CAG>AAG		Fc fragment of IgG binding protein precursor							52.0	46.0	48.0					19																	40433455		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433455G>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.814C>A	19.37:g.40433455G>T	ENSP00000221347:p.Gln272Lys						p.Q272K	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	822	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		272			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.814C>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.583	1.124178	0.20959	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.29	3.23	0.37069	.	0.000000	0.56097	U	0.000024	T	0.10809	0.0264	L	0.27053	0.805	0.24115	N	0.995829	B	0.32781	0.384	B	0.30251	0.113	T	0.19549	-1.0302	10	0.72032	D	0.01	.	7.5464	0.27770	0.0894:0.0:0.747:0.1636	.	272	Q9Y6R7	FCGBP_HUMAN	K	272	ENSP00000221347:Q272K	ENSP00000221347:Q272K	Q	-	1	0	FCGBP	45125295	0.990000	0.36364	0.998000	0.56505	0.247000	0.25773	1.312000	0.33574	1.370000	0.46153	0.655000	0.94253	CAG		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	49	1	0	3.45872e-05	0.004007	3.83513e-05	13	49				
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:42471882C>A	ENST00000302102.5	-	21	3003	c.2853G>T	c.(2851-2853)gaG>gaT	p.E951D	ATP1A3_ENST00000545399.1_Missense_Mutation_p.E964D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E962D|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E921D	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	951					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.E951D(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGCCGTCTCCTCAAACA	0.667																																							uc002osg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2851-2853)GAG>GAT		Na+/K+ -ATPase alpha 3 subunit							64.0	53.0	57.0					19																	42471882		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471882C>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2853G>T	19.37:g.42471882C>A	ENSP00000302397:p.Glu951Asp					ATP1A3_uc010xwf.1_Missense_Mutation_p.E962D|ATP1A3_uc010xwg.1_Missense_Mutation_p.E921D|ATP1A3_uc010xwh.1_Missense_Mutation_p.E964D|ATP1A3_uc002osh.2_Missense_Mutation_p.E951D	p.E951D	NM_152296	NP_689509	P13637	AT1A3_HUMAN			21	3007	-			951			Helical; (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2853G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310613	0.40895	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	3.27	2.19	0.27852	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.126305	0.50627	D	0.000103	D	0.95825	0.8641	H	0.94503	3.545	0.58432	D	0.999998	B;B;B;B	0.22080	0.064;0.001;0.003;0.002	B;B;B;B	0.31442	0.13;0.009;0.037;0.015	D	0.93386	0.6747	10	0.72032	D	0.01	.	5.788	0.18345	0.0:0.7451:0.0:0.2549	.	964;962;951;951	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	D	951;951;964;921;962	ENSP00000302397:E951D;ENSP00000411503:E951D;ENSP00000444688:E964D;ENSP00000437577:E962D	ENSP00000302397:E951D	E	-	3	2	ATP1A3	47163722	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.026000	0.41069	0.695000	0.31675	0.462000	0.41574	GAG		0.667	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		9	28	1	0	1.05317e-09	0.00245	1.27086e-09	9	28				
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:43430713G>A	ENST00000406070.2	-	0	961				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493																																							uc002ovl.3		NA																	0					0						c.(865-867)CGC>TGC		pregnancy specific beta-1-glycoprotein 7							237.0	219.0	225.0					19																	43430713		2202	4284	6486			5676				female pregnancy	extracellular region		g.chr19:43430713G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430713G>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.R167C	p.R289C	NM_002783	NP_002774	Q13046	PSG7_HUMAN			5	967	-		Prostate(69;0.00682)	289			Ig-like C2-type 2.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.865C>T																																																																																					0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		86	453	0	0	0	0.00361	0	86	453				
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:44891467T>A	ENST00000330997.4	-	4	1004	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K321*|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K314*|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	314					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.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGTAGGGTTTGTCTCCTGAG	0.502																																							uc002ozd.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)	4						c.(940-942)AAA>TAA		zinc finger protein 285							85.0	89.0	88.0					19																	44891467		2203	4300	6503	SO:0001587	stop_gained	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891467T>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.940A>T	19.37:g.44891467T>A	ENSP00000333595:p.Lys314*					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Nonsense_Mutation_p.K321*	p.K314*	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1027	-			314					Q17RJ3|Q6B0A8|Q6ISR5	Nonsense_Mutation	SNP	ENST00000330997.4	37	c.940A>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	39	7.631705	0.98399	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.8	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3455	0.38107	0.0:0.0:0.1813:0.8187	.	.	.	.	X	337;314	.	ENSP00000333595:K314X	K	-	1	0	ZNF285	49583307	0.458000	0.25760	0.516000	0.27786	0.846000	0.48090	3.139000	0.50577	0.413000	0.25759	0.373000	0.22412	AAA		0.502	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		17	132	0	0	0	0.010504	0	17	132				
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48377943A>T	ENST00000222002.3	-	5	855	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.V239E(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TTTGTCCACTACATAATCAAC	0.403																																							uc002phr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(715-717)GTA>GAA		bile-salt sulfotransferase 2A1							153.0	153.0	153.0					19																	48377943		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48377943A>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.716T>A	19.37:g.48377943A>T	ENSP00000222002:p.Val239Glu						p.V239E	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	5	856	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	239						Missense_Mutation	SNP	ENST00000222002.3	37	c.716T>A	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.369646	0.24771	.	.	ENSG00000105398	ENST00000222002	T	0.01613	4.73	3.41	2.38	0.29361	Sulfotransferase domain (1);	6.140210	0.00465	N	0.000104	T	0.03871	0.0109	L	0.45352	1.415	0.09310	N	1	P	0.34934	0.476	B	0.41135	0.348	T	0.44097	-0.9350	10	0.56958	D	0.05	.	8.3911	0.32528	0.8015:0.1985:0.0:0.0	.	239	Q06520	ST2A1_HUMAN	E	239	ENSP00000222002:V239E	ENSP00000222002:V239E	V	-	2	0	SULT2A1	53069755	0.035000	0.19736	0.000000	0.03702	0.000000	0.00434	2.642000	0.46596	0.666000	0.31087	0.528000	0.53228	GTA		0.403	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		31	84	0	0	0	0.005524	0	31	84				
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48945446T>A	ENST00000263269.3	+	12	2568	c.2480T>A	c.(2479-2481)aTc>aAc	p.I827N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	827					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.I827N(2)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCTCTGGGATCTGCCACAAT	0.567																																							uc002pjc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)	6						c.(2479-2481)ATC>AAC		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						132.0	128.0	130.0					19																	48945446		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945446T>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2480T>A	19.37:g.48945446T>A	ENSP00000263269:p.Ile827Asn					GRIN2D_uc010elx.2_Missense_Mutation_p.I62N	p.I827N	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	2568	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	827			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.2480T>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769888	0.90020	.	.	ENSG00000105464	ENST00000263269	T	0.50001	0.76	4.34	4.34	0.51931	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	L	0.47716	1.5	0.54753	D	0.999988	D	0.76494	0.999	D	0.87578	0.998	T	0.64347	-0.6429	10	0.87932	D	0	.	12.9725	0.58520	0.0:0.0:0.0:1.0	.	827	O15399	NMDE4_HUMAN	N	827	ENSP00000263269:I827N	ENSP00000263269:I827N	I	+	2	0	GRIN2D	53637258	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.702000	0.84576	1.968000	0.57251	0.374000	0.22700	ATC		0.567	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			17	55	0	0	0	0.008871	0	17	55				
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:49704042G>T	ENST00000252826.5	+	19	3079	c.2953G>T	c.(2953-2955)Gtg>Ttg	p.V985L	TRPM4_ENST00000427978.2_Splice_Site_p.V840L|TRPM4_ENST00000355712.5_Splice_Site_p.V631L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	985					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.V985L(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACATGGACGGTAGGGGGGA	0.592																																							uc002pmw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2953-2955)GTG>TTG		transient receptor potential cation channel,							43.0	38.0	40.0					19																	49704042		2203	4300	6503	SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49704042G>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2953+1G>T	19.37:g.49704042G>T						TRPM4_uc010emu.2_Missense_Mutation_p.V840L|TRPM4_uc010yak.1_Missense_Mutation_p.V449L|TRPM4_uc002pmx.2_Missense_Mutation_p.V811L|TRPM4_uc010emv.2_Missense_Mutation_p.V870L|TRPM4_uc010yal.1_Missense_Mutation_p.V631L|TRPM4_uc002pmy.2_Missense_Mutation_p.V327L	p.V985L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	19	3025	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	985	EDMDVA->TIIDGP: Induces a functional channel that combines the gating hallmarks of TRPM4 (activation by Ca(2+)) with TRPV6-like sensitivity to block by extracellular Ca(2+) and Mg(2+) as well as Ca(2+) permeation.		Selectivity filter.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2953G>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795362	0.16327	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.68479	-0.33;-0.33;-0.33	4.57	4.57	0.56435	.	0.748305	0.11279	U	0.580517	T	0.52306	0.1726	N	0.13235	0.315	0.47094	D	0.999312	P;P;P;B	0.38129	0.619;0.584;0.584;0.015	B;B;B;B	0.35073	0.117;0.195;0.195;0.005	T	0.54951	-0.8216	10	0.41790	T	0.15	-13.3214	16.4999	0.84254	0.0:0.0:1.0:0.0	.	631;811;840;985	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	985;840;631	ENSP00000252826:V985L;ENSP00000407492:V840L;ENSP00000347944:V631L	ENSP00000252826:V985L	V	+	1	0	TRPM4	54395854	1.000000	0.71417	0.985000	0.45067	0.294000	0.27393	5.393000	0.66279	2.271000	0.75665	0.313000	0.20887	GTG		0.592	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Missense_Mutation	7	15	1	0	0.000442599	0.006214	0.000479446	7	15				
IRF3	3661	broad.mit.edu	37	19	50163052	50163052	+	Silent	SNP	G	G	C	rs200392275		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:50163052G>C	ENST00000597198.1	-	8	1518	c.1137C>G	c.(1135-1137)gcC>gcG	p.A379A	IRF3_ENST00000309877.7_Silent_p.A379A|IRF3_ENST00000377135.4_Silent_p.A252A|IRF3_ENST00000377139.3_Silent_p.A379A|IRF3_ENST00000598808.1_Silent_p.A233A|IRF3_ENST00000596765.1_Silent_p.A106A|IRF3_ENST00000600022.1_Silent_p.A106A|IRF3_ENST00000596822.1_Missense_Mutation_p.P68A|IRF3_ENST00000593922.1_Silent_p.A233A|IRF3_ENST00000600911.1_Missense_Mutation_p.P341A|IRF3_ENST00000599223.1_Silent_p.A252A|IRF3_ENST00000601291.1_Missense_Mutation_p.P385A|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000599144.1_Silent_p.A233A			Q14653	IRF3_HUMAN	interferon regulatory factor 3	379					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.A379A(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCCTACCCGGGCCATTTCTA	0.607																																							uc010end.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1135-1137)GCC>GCG		interferon regulatory factor 3		G	ALA/PRO,,,,,,,	0,4406		0,0,2203	79.0	78.0	78.0		1153,1032,756,699,699,318,318,1137	-4.4	0.0	19		78	2,8598	2.2+/-6.3	0,2,4298	yes	missense,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IRF3	NM_001197122.1,NM_001197123.1,NM_001197124.1,NM_001197125.1,NM_001197126.1,NM_001197127.1,NM_001197128.1,NM_001571.5	27,,,,,,,	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	,,,,,,,	385/453,344/393,252/301,233/282,233/282,106/155,106/155,379/428	50163052	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50163052G>C		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1137C>G	19.37:g.50163052G>C						IRF3_uc002pos.1_RNA|IRF3_uc002pot.1_Silent_p.A252A|IRF3_uc002pox.1_Missense_Mutation_p.P341A|IRF3_uc002poy.1_Silent_p.A379A|IRF3_uc002pou.2_Silent_p.A379A|IRF3_uc002pov.2_Silent_p.A233A|IRF3_uc002pow.2_Missense_Mutation_p.P385A	p.A379A	NM_001571	NP_001562	Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	8	1519	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	379					A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Silent	SNP	ENST00000597198.1	37	c.1137C>G	CCDS12775.1																																																																																				0.607	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		3	23	0	0	0	0.009096	0	3	23				
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:50779265G>C	ENST00000596571.1	+	25	3362	c.3362G>C	c.(3361-3363)gGg>gCg	p.G1121A	MYH14_ENST00000440075.2_Missense_Mutation_p.G1162A|MYH14_ENST00000601313.1_Missense_Mutation_p.G1162A|MYH14_ENST00000598205.1_Missense_Mutation_p.G1129A|MYH14_ENST00000262269.8_Missense_Mutation_p.G1162A|MYH14_ENST00000425460.1_Missense_Mutation_p.G1129A|MYH14_ENST00000376970.2_Missense_Mutation_p.G1154A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1121					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.G1121A(2)|p.G1162A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGAGGGTGGGGCCCGGGCC	0.647																																							uc002prr.1		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(3361-3363)GGG>GCG		myosin, heavy chain 14 isoform 2							13.0	16.0	15.0					19																	50779265		1908	4119	6027	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50779265G>C	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3362G>C	19.37:g.50779265G>C	ENSP00000472819:p.Gly1121Ala					MYH14_uc010enu.1_Missense_Mutation_p.G1162A|MYH14_uc002prq.1_Missense_Mutation_p.G1129A	p.G1121A	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	26	3409	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1121			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.3362G>C	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	0.131	-1.113134	0.01799	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.82344	-1.58;-1.6;-1.6;-1.58	4.53	4.53	0.55603	Myosin tail (1);	.	.	.	.	T	0.52224	0.1721	N	0.00765	-1.205	0.30379	N	0.782113	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.14578	0.001;0.011;0.006	T	0.51228	-0.8732	9	0.02654	T	1	.	8.911	0.35552	0.1039:0.0:0.8961:0.0	.	1162;1121;1129	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	A	1121;1162;1154;1129;1121;1162	ENSP00000406273:G1162A;ENSP00000366169:G1154A;ENSP00000407879:G1129A;ENSP00000262269:G1162A	ENSP00000262269:G1162A	G	+	2	0	MYH14	55471077	0.986000	0.35501	0.986000	0.45419	0.761000	0.43186	2.210000	0.42816	2.255000	0.74692	0.455000	0.32223	GGG		0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		3	14	0	0	0	0.004672	0	3	14				
KLK4	9622	broad.mit.edu	37	19	51412025	51412025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51412025C>A	ENST00000324041.1	-	3	284	c.285G>T	c.(283-285)caG>caT	p.Q95H	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Missense_Mutation_p.Q46H	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	95	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Q95H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCACCATCTGGCTCCCTG	0.602																																							uc002pua.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CAG>CAT		kallikrein-related peptidase 4 preproprotein							79.0	61.0	67.0					19																	51412025		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412025C>A	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.285G>T	19.37:g.51412025C>A	ENSP00000326159:p.Gln95His					KLK4_uc002pty.1_Missense_Mutation_p.Q46H|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'UTR	p.Q95H	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	3	285	-		all_neural(266;0.026)	95			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.285G>T	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	13.87	2.366698	0.41902	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.90620	-2.7;-2.7	3.82	0.053	0.14305	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.449060	0.02255	N	0.067014	D	0.90597	0.7052	M	0.82823	2.61	0.09310	N	1	P	0.37525	0.598	B	0.35413	0.202	T	0.76615	-0.2894	10	0.87932	D	0	.	6.8859	0.24199	0.1888:0.4433:0.3678:0.0	.	95	Q9Y5K2	KLK4_HUMAN	H	95;46	ENSP00000326159:Q95H;ENSP00000399448:Q46H	ENSP00000326159:Q95H	Q	-	3	2	KLK4	56103837	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	0.014000	0.14944	0.549000	0.68633	CAG		0.602	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		61	129	1	0	4.88506e-25	0.00361	7.42034e-25	61	129				
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51630332G>T	ENST00000250360.3	+	4	861	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.G265V	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	265	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.G265V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCCCAGAGGGCCAGTCTCTG	0.542																																							uc002pvu.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(793-795)GGC>GTC		sialic acid binding Ig-like lectin 9 precursor							103.0	101.0	102.0					19																	51630332		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630332G>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.794G>T	19.37:g.51630332G>T	ENSP00000250360:p.Gly265Val					SIGLEC9_uc010yct.1_Missense_Mutation_p.G265V	p.G265V	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	861	+		all_neural(266;0.0529)	265			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.794G>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.78	1.741339	0.30865	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.35048	1.33;1.33	2.3	1.22	0.21188	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.192144	0.25433	N	0.030708	T	0.67126	0.2860	H	0.97918	4.105	0.19300	N	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.58289	-0.7662	10	0.87932	D	0	.	4.8517	0.13540	0.191:0.0:0.809:0.0	.	265	Q9Y336	SIGL9_HUMAN	V	265	ENSP00000413861:G265V;ENSP00000250360:G265V	ENSP00000250360:G265V	G	+	2	0	SIGLEC9	56322144	0.989000	0.36119	0.007000	0.13788	0.059000	0.15707	0.931000	0.28871	0.182000	0.20032	0.407000	0.27541	GGC		0.542	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		50	86	1	0	1.40369e-38	0.00361	2.3287e-38	50	86				
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	G	T	rs201159850		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51828677G>T	ENST00000270642.8	+	4	469	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	157	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.V157L(2)		large_intestine(5)|lung(6)|prostate(1)	12						TTGCCTGGCCGTGGGGCGGCC	0.667																																							uc002pwc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(469-471)GTG>TTG		IgLON family member 5 precursor							31.0	34.0	33.0					19																	51828677		2021	4164	6185	SO:0001583	missense	402665					extracellular region		g.chr19:51828677G>T		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.469G>T	19.37:g.51828677G>T	ENSP00000270642:p.Val157Leu						p.V157L	NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN			4	469	+			157			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000270642.8	37	c.469G>T	CCDS46158.1	.	.	.	.	.	.	.	.	.	.	G	9.194	1.026872	0.19512	.	.	ENSG00000142549	ENST00000270642	T	0.11930	2.73	3.6	2.54	0.30619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.09291	0.0229	N	0.19112	0.55	0.37675	D	0.923289	B	0.27656	0.184	B	0.32090	0.14	T	0.23833	-1.0177	10	0.38643	T	0.18	-5.2261	9.0765	0.36525	0.1133:0.0:0.8867:0.0	.	157	A6NGN9	IGLO5_HUMAN	L	157	ENSP00000270642:V157L	ENSP00000270642:V157L	V	+	1	0	IGLON5	56520489	0.408000	0.25360	0.901000	0.35422	0.392000	0.30506	0.976000	0.29462	0.705000	0.31890	0.313000	0.20887	GTG		0.667	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		11	20	1	0	6.72482e-11	0.003163	8.32891e-11	11	20				
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51914385G>A	ENST00000339313.5	-	11	2178	c.2062C>T	c.(2062-2064)Cag>Tag	p.Q688*	SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q545*|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q630*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q445*|SIGLEC10_ENST00000353836.5_Nonsense_Mutation_p.Q593*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q510*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q535*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q503*			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	688					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.Q688*(2)|p.Q630*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAATCCGCCTGGGTGCCCTTG	0.562																																							uc002pwo.2		NA																	4	Substitution - Nonsense(4)		lung(4)	skin(1)	1						c.(2062-2064)CAG>TAG		sialic acid binding Ig-like lectin 10 precursor							106.0	104.0	105.0					19																	51914385		2203	4300	6503	SO:0001587	stop_gained	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51914385G>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.2062C>T	19.37:g.51914385G>A	ENSP00000345243:p.Gln688*					SIGLEC10_uc002pwp.2_Nonsense_Mutation_p.Q630*|SIGLEC10_uc002pwq.2_Nonsense_Mutation_p.Q535*|SIGLEC10_uc002pwr.2_Nonsense_Mutation_p.Q593*|SIGLEC10_uc010ycy.1_Nonsense_Mutation_p.Q503*|SIGLEC10_uc010ycz.1_Nonsense_Mutation_p.Q545*|SIGLEC10_uc010eow.2_Nonsense_Mutation_p.Q405*	p.Q688*	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	11	2678	-		all_neural(266;0.0199)	688			Cytoplasmic (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Nonsense_Mutation	SNP	ENST00000339313.5	37	c.2062C>T	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	15.22	2.768612	0.49680	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	.	.	.	4.55	-6.5	0.01884	.	1.613550	0.03654	N	0.241460	.	.	.	.	.	.	0.36730	A	0.881635	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	1.8742	0.03215	0.2991:0.3633:0.2149:0.1227	.	.	.	.	X	593;510;445;688;535;503;630;545;688	.	ENSP00000345243:Q688X	Q	-	1	0	SIGLEC10	56606197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.525000	0.06214	-1.024000	0.03338	-0.974000	0.02594	CAG		0.562	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		30	24	0	0	0	0.009535	0	30	24				
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	G	T	rs267605614		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51961521G>T	ENST00000321424.3	-	1	187	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACACACAGGCCCTCCTGC	0.597																																							uc002pwt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(121-123)CTG>ATG		sialic acid binding Ig-like lectin 8 precursor							141.0	123.0	129.0					19																	51961521		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961521G>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.121C>A	19.37:g.51961521G>T	ENSP00000321077:p.Leu41Met					SIGLEC8_uc010yda.1_Missense_Mutation_p.L41M|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.L41M	p.L41M	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	188	-		all_neural(266;0.0199)	41			Ig-like V-type.|Extracellular (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.121C>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	17.73	3.461205	0.63513	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.45668	0.89;0.89;0.89	2.14	1.08	0.20341	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.31102	N	0.008260	T	0.58609	0.2134	M	0.82323	2.585	0.19775	N	0.999954	D;B;D	0.76494	0.999;0.244;0.996	D;B;D	0.76575	0.988;0.026;0.978	T	0.45381	-0.9265	10	0.56958	D	0.05	.	4.793	0.13257	0.1866:0.0:0.8134:0.0	.	41;41;41	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	M	41	ENSP00000389142:L41M;ENSP00000321077:L41M;ENSP00000339448:L41M	ENSP00000321077:L41M	L	-	1	2	SIGLEC8	56653333	0.021000	0.18746	0.894000	0.35097	0.965000	0.64279	0.936000	0.28938	0.454000	0.26884	0.508000	0.49915	CTG		0.597	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		37	136	1	0	2.24893e-16	0.009718	3.0706e-16	37	136				
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	228	Ig-like C2-type.							p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552																																							uc002pwv.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(865-867)GAC>CAC		carcinoembryonic antigen-related cell adhesion							160.0	153.0	155.0					19																	51986279		1965	4158	6123	SO:0001583	missense	729767					integral to membrane		g.chr19:51986279G>C			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.682G>C	19.37:g.51986279G>C	ENSP00000379738:p.Asp228His						p.D289H	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	865	+		all_neural(266;0.0529)	289			Ig-like C2-type.		C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.865G>C		.	.	.	.	.	.	.	.	.	.	.	11.69	1.712590	0.30322	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.07327	3.2	2.76	0.386	0.16254	Immunoglobulin-like (1);	.	.	.	.	T	0.18800	0.0451	M	0.63428	1.95	0.09310	N	1	D	0.60160	0.987	P	0.61201	0.885	T	0.07693	-1.0759	9	0.72032	D	0.01	-13.5954	7.2542	0.26166	0.0:0.0:0.4815:0.5185	.	289	A8MTB9	CEA18_HUMAN	H	289;228;228	ENSP00000402203:D289H	ENSP00000379738:D228H	D	+	1	0	CEACAM18	56678091	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.400000	0.20932	0.193000	0.20303	0.456000	0.33151	GAC		0.552	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			76	214	0	0	0	0.00361	0	76	214				
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:52719903A>T	ENST00000322088.6	+	9	1173	c.1115A>T	c.(1114-1116)cAg>cTg	p.Q372L	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q193L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q317L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	372	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.Q372L(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCCTGGCTCAGCTGAAGGAT	0.552			Mis		clear cell ovarian carcinoma																																		uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		2	Substitution - Missense(2)		lung(2)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1114-1116)CAG>CTG		alpha isoform of regulatory subunit A, protein							108.0	85.0	93.0					19																	52719903		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719903A>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1115A>T	19.37:g.52719903A>T	ENSP00000324804:p.Gln372Leu					PPP2R1A_uc010ydk.1_Missense_Mutation_p.Q317L|PPP2R1A_uc010epm.1_Missense_Mutation_p.Q412L|PPP2R1A_uc002pyq.2_Missense_Mutation_p.Q193L	p.Q372L	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	9	1274	+			372			PP2A subunit B binding.|HEAT 10.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1115A>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	A	7.631	0.678937	0.14841	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.25414	1.8;1.8	4.38	4.38	0.52667	Armadillo-like helical (1);Armadillo-type fold (1);	0.100234	0.43110	N	0.000615	T	0.10508	0.0257	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.23540	0.087;0.013;0.006	B;B;B	0.21360	0.034;0.01;0.003	T	0.10520	-1.0626	10	0.02654	T	1	-20.0096	11.8898	0.52622	1.0:0.0:0.0:0.0	.	317;372;372	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	362;292;372;317	ENSP00000324804:Q372L;ENSP00000415067:Q317L	ENSP00000324804:Q372L	Q	+	2	0	PPP2R1A	57411715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.115000	0.89572	1.977000	0.57605	0.533000	0.62120	CAG		0.552	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		28	77	0	0	0	0.003271	0	28	77				
TFPT	29844	broad.mit.edu	37	19	54618637	54618637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:54618637G>C	ENST00000391759.1	-	1	418	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391758.1_5'Flank|PRPF31_ENST00000419967.1_5'Flank|TFPT_ENST00000391757.1_Missense_Mutation_p.Q5E	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	5					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q5E(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTTCTCTCTGCTCCAATTCC	0.522			T	TCF3	pre-B ALL						OREG0003633|OREG0003635	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc010yej.1		NA		Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		1	Substitution - Missense(1)		lung(1)		0						c.(13-15)CAG>GAG		TCF3 (E2A) fusion partner							140.0	119.0	126.0					19																	54618637		2203	4300	6503	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54618637G>C	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.13C>G	19.37:g.54618637G>C	ENSP00000375639:p.Gln5Glu		OREG0003635|OREG0003633	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1001	TFPT_uc010erd.2_Missense_Mutation_p.Q5E|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank	p.Q5E	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN			1	419	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		5						Missense_Mutation	SNP	ENST00000391759.1	37	c.13C>G	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506834	0.64410	.	.	ENSG00000105619	ENST00000391759;ENST00000391757	.	.	.	3.58	3.58	0.41010	.	0.572074	0.14704	N	0.303381	T	0.41949	0.1181	N	0.08118	0	0.32571	N	0.529789	P	0.43578	0.811	P	0.54924	0.764	T	0.54370	-0.8304	9	0.87932	D	0	-30.0751	10.9908	0.47549	0.0:0.0:1.0:0.0	.	5	P0C1Z6	TFPT_HUMAN	E	5	.	ENSP00000375637:Q5E	Q	-	1	0	TFPT	59310449	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.316000	0.43761	2.297000	0.77311	0.563000	0.77884	CAG		0.522	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		8	35	0	0	0	0.008291	0	8	35				
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	C	A	rs376436279		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:55146212C>A	ENST00000396331.1	+	11	1838	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S478*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S544*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S478*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S495*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S495*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	494					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.S494*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACTGGACATCGAGTGAGTAG	0.577										HNSCC(37;0.09)																													uc002qgj.2		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1480-1482)TCG>TAG		leukocyte immunoglobulin-like receptor,							141.0	131.0	134.0					19																	55146212		2203	4300	6503	SO:0001587	stop_gained	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146212C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1481C>A	19.37:g.55146212C>A	ENSP00000379622:p.Ser494*	HNSCC(37;0.09)				LILRB1_uc010erp.1_Nonsense_Mutation_p.S109*|LILRB1_uc002qgl.2_Nonsense_Mutation_p.S494*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.S495*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.S495*|LILRB1_uc010erq.2_Nonsense_Mutation_p.S478*|LILRB1_uc010err.2_RNA	p.S494*	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1821	+			494			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Nonsense_Mutation	SNP	ENST00000396331.1	37	c.1481C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381178	0.61845	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	.	.	.	1.81	0.606	0.17559	.	5.551600	0.00887	U	0.002191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7298	0.18032	0.0:0.6568:0.3432:0.0	.	.	.	.	X	494;478;494;494;495;495;494;494;544;478;495	.	ENSP00000315997:S495X	S	+	2	0	LILRB1	59838024	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.013000	0.13310	0.258000	0.21686	0.205000	0.17691	TCG		0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			74	178	1	0	5.82064e-54	0.00361	1.03223e-53	74	178				
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:55497607G>T	ENST00000543010.1	+	8	2433	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	NLRP2_ENST00000427260.2_Missense_Mutation_p.G741C|NLRP2_ENST00000339757.7_Missense_Mutation_p.G742C|NLRP2_ENST00000448584.2_Missense_Mutation_p.G764C|NLRP2_ENST00000537859.1_Missense_Mutation_p.G742C|NLRP2_ENST00000391721.4_Missense_Mutation_p.G740C|NLRP2_ENST00000538819.1_Missense_Mutation_p.G740C|NLRP2_ENST00000263437.6_Missense_Mutation_p.G761C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.G764C(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCCTTCAAGGCAATGACCA	0.443																																							uc002qij.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2290-2292)GGC>TGC		NLR family, pyrin domain containing 2							154.0	123.0	133.0					19																	55497607		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55497607G>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2290G>T	19.37:g.55497607G>T	ENSP00000445135:p.Gly764Cys					NLRP2_uc010yfp.1_Missense_Mutation_p.G741C|NLRP2_uc010esn.2_Missense_Mutation_p.G740C|NLRP2_uc010eso.2_Missense_Mutation_p.G761C|NLRP2_uc010esp.2_Missense_Mutation_p.G742C	p.G764C	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	8	2376	+			764					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2290G>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202717	0.38905	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	2.65	1.61	0.23674	.	0.000000	0.33515	N	0.004823	T	0.66317	0.2777	M	0.81942	2.565	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.52786	-0.8529	10	0.39692	T	0.17	.	5.5087	0.16868	0.1567:0.0:0.8433:0.0	.	741;742;761;740;764	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	C	764;740;742;764;742;741;740;761	ENSP00000445135:G764C;ENSP00000375601:G740C;ENSP00000344074:G742C;ENSP00000409370:G764C;ENSP00000440601:G742C;ENSP00000402474:G741C;ENSP00000441133:G740C;ENSP00000263437:G761C	ENSP00000263437:G761C	G	+	1	0	NLRP2	60189419	0.531000	0.26338	0.013000	0.15412	0.017000	0.09413	1.148000	0.31614	0.697000	0.31718	0.650000	0.86243	GGC		0.443	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		17	38	1	0	6.94344e-10	0.006122	8.41629e-10	17	38				
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:56369376C>A	ENST00000301295.6	+	3	1039	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.S206Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.S131Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.S206Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGATTTCCAGAGAGTGG	0.532																																							uc002qmd.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(616-618)TCC>TAC		NLR family, pyrin domain containing 4							92.0	92.0	92.0					19																	56369376		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369376C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.617C>A	19.37:g.56369376C>A	ENSP00000301295:p.Ser206Tyr					NLRP4_uc002qmf.2_Missense_Mutation_p.S131Y|NLRP4_uc010etf.2_Missense_Mutation_p.S37Y	p.S206Y	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1039	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	206			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.617C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255674	0.39896	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	4.24	0.731	0.18277	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.85754	0.5770	M	0.82823	2.61	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72625	0.978;0.959;0.967	T	0.73263	-0.4038	9	0.42905	T	0.14	.	7.8155	0.29256	0.0:0.4089:0.4981:0.093	.	206;131;206	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Y	206	ENSP00000301295:S206Y;ENSP00000344787:S206Y	ENSP00000301295:S206Y	S	+	2	0	NLRP4	61061188	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.048000	0.14078	0.143000	0.18926	-0.150000	0.13652	TCC		0.532	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		28	120	1	0	4.74835e-14	0.002096	6.22357e-14	28	120				
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:56370026G>T	ENST00000301295.6	+	3	1689	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	NLRP4_ENST00000346986.5_Missense_Mutation_p.G423W|NLRP4_ENST00000587891.1_Missense_Mutation_p.G348W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	423	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G423W(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGAAATGGGGTTGTTGA	0.562																																							uc002qmd.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1267-1269)GGG>TGG		NLR family, pyrin domain containing 4							111.0	109.0	110.0					19																	56370026		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370026G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1267G>T	19.37:g.56370026G>T	ENSP00000301295:p.Gly423Trp					NLRP4_uc002qmf.2_Missense_Mutation_p.G348W|NLRP4_uc010etf.2_Missense_Mutation_p.G254W	p.G423W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1689	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	423			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1267G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686920	0.48097	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.87179	-2.22;-2.22	4.1	3.06	0.35304	.	.	.	.	.	D	0.92870	0.7732	M	0.87547	2.89	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83041	-0.0157	9	0.87932	D	0	.	7.0744	0.25197	0.1212:0.0:0.8788:0.0	.	423;348;423	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	W	423	ENSP00000301295:G423W;ENSP00000344787:G423W	ENSP00000301295:G423W	G	+	1	0	NLRP4	61061838	0.313000	0.24554	0.081000	0.20488	0.004000	0.04260	0.880000	0.28159	2.278000	0.76064	0.655000	0.94253	GGG		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		37	148	1	0	1.32136e-16	0.00874	1.8133e-16	37	148				
ZNF419	79744	broad.mit.edu	37	19	58005013	58005013	+	Missense_Mutation	SNP	G	G	A	rs190991901	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:58005013G>A	ENST00000221735.7	+	5	1274	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	ZNF419_ENST00000354197.4_Missense_Mutation_p.R351H|ZNF419_ENST00000347466.6_Missense_Mutation_p.R331H|ZNF419_ENST00000415379.2_Missense_Mutation_p.R317H|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000424930.2_Missense_Mutation_p.R364H|ZNF419_ENST00000426954.2_Missense_Mutation_p.R351H|ZNF419_ENST00000442920.2_Missense_Mutation_p.R350H			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	363					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.R331H(1)|p.R338H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAACATTGGCGTGTTCATACT	0.413													G|||	9	0.00179712	0.0	0.0043	5008	,	,		21634	0.001		0.005	False		,,,				2504	0.0						uc002qov.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1087-1089)CGT>CAT		zinc finger protein 419 isoform 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	8,4394	12.9+/-30.5	0,8,2193	85.0	89.0	88.0		1091,1052,1049,992,953,950,1088	-0.6	0.0	19		88	83,8515	47.2+/-106.3	0,83,4216	no	missense,missense,missense,missense,missense,missense,missense	ZNF419	NM_001098491.1,NM_001098492.1,NM_001098493.1,NM_001098494.1,NM_001098495.1,NM_001098496.1,NM_024691.3	29,29,29,29,29,29,29	0,91,6409	AA,AG,GG		0.9653,0.1817,0.7	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	364/512,351/499,350/498,331/479,318/466,317/465,363/511	58005013	91,12909	2201	4299	6500	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005013G>A	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1088G>A	19.37:g.58005013G>A	ENSP00000221735:p.Arg363His					ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.R364H|ZNF419_uc010etz.1_Missense_Mutation_p.R351H|ZNF419_uc010eua.1_Missense_Mutation_p.R350H|ZNF419_uc002qow.2_Missense_Mutation_p.R331H|ZNF419_uc010eub.1_Missense_Mutation_p.R318H|ZNF419_uc010euc.1_Missense_Mutation_p.R317H	p.R363H	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1328	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	363			C2H2-type 6.		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.1088G>A	CCDS54326.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	14.15	2.448114	0.43429	0.001817	0.009653	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78	1.8	-0.582	0.11709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36110	0.0955	M	0.79805	2.47	0.09310	N	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;P;D;D;D;D;D	0.79108	0.992;0.88;0.983;0.975;0.962;0.946;0.962	T	0.21177	-1.0253	9	0.87932	D	0	.	2.9454	0.05845	0.2787:0.0:0.5051:0.2162	.	317;317;350;351;364;331;363	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	H	338;364;351;351;350;364;331;317;363	ENSP00000388864:R364H;ENSP00000390916:R351H;ENSP00000346136:R351H;ENSP00000414709:R350H;ENSP00000299860:R331H;ENSP00000392129:R317H;ENSP00000221735:R363H	ENSP00000221735:R363H	R	+	2	0	ZNF419	62696825	0.001000	0.12720	0.001000	0.08648	0.250000	0.25880	0.874000	0.28065	-0.073000	0.12842	0.205000	0.17691	CGT		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		4	105	0	0	0	0.009096	0	4	105				
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:1544403G>A	ENST00000345913.4	+	16	2747	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	TPO_ENST00000349624.3_Missense_Mutation_p.E713K|TPO_ENST00000329066.4_Missense_Mutation_p.E886K|TPO_ENST00000382201.3_Missense_Mutation_p.E829K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.E713K|TPO_ENST00000337415.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.E842K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	886					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.E886K(2)		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)	GCCCATCTCGGAGACAGGCGG	0.642																																							uc002qww.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2656-2658)GAG>AAG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						92.0	79.0	83.0					2																	1544403		2203	4300	6503	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.chr2:1544403G>A		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.2656G>A	2.37:g.1544403G>A	ENSP00000318820:p.Glu886Lys					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E829K|TPO_uc002qwr.2_Missense_Mutation_p.E886K|TPO_uc002qwx.2_Missense_Mutation_p.E829K|TPO_uc010yio.1_Missense_Mutation_p.E713K|TPO_uc010yip.1_Missense_Mutation_p.E842K|TPO_uc002qwy.1_Missense_Mutation_p.E182K|TPO_uc002qwz.2_Intron	p.E886K	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	16	2747	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	886			Cytoplasmic (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2656G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652442	0.29336	.	.	ENSG00000115705	ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	T;T;T;T;T;T;T;T;T	0.75477	-0.47;-0.29;-0.24;-0.47;-0.51;-0.24;-0.35;0.49;-0.94	1.43	1.43	0.22495	.	.	.	.	.	T	0.60405	0.2266	N	0.08118	0	0.18873	N	0.999988	P;D;P;P	0.54964	0.728;0.969;0.728;0.608	B;P;B;B	0.53313	0.297;0.723;0.297;0.156	T	0.50541	-0.8816	9	0.27785	T	0.31	-16.3448	6.3205	0.21215	0.0:0.0:1.0:0.0	.	842;713;829;886	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	K	886;842;713;886;829;713;771;316;107	ENSP00000318820:E886K;ENSP00000263886:E842K;ENSP00000332044:E713K;ENSP00000329869:E886K;ENSP00000371636:E829K;ENSP00000371633:E713K;ENSP00000405788:E771K;ENSP00000419461:E316K;ENSP00000389659:E107K	ENSP00000329869:E886K	E	+	1	0	TPO	1523410	0.000000	0.05858	0.003000	0.11579	0.056000	0.15407	-0.100000	0.10990	1.088000	0.41272	0.306000	0.20318	GAG		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		10	55	0	0	0	0.000978	0	10	55				
TRIB2	28951	broad.mit.edu	37	2	12880889	12880890	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:12880889_12880890TG>AT	ENST00000155926.4	+	3	2420_2421	c.1001_1002TG>AT	c.(1000-1002)aTG>aAT	p.M334N	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198N	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTCAACATGGAAGAGAACT	0.515																																							uc002rbv.3		NA																	2	Substitution - Missense(2)		lung(2)	stomach(1)	1						c.(1000-1002)ATG>AAT		tribbles homolog 2																																				SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880889_12880890TG>AT	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	Exception_encountered	2.37:g.12880889_12880890delinsAT	ENSP00000155926:p.Met334Asn					TRIB2_uc010yjp.1_Missense_Mutation_p.M198N	p.M334N	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			3	2437_2438	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		334						Missense_Mutation	DNP	ENST00000155926.4	37	c.1001_1002TG>AT	CCDS1683.1																																																																																				0.515	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		49	180	0	0	0	0.004672	0	49	180				
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:15417226C>A	ENST00000281513.5	-	43	5164		c.e43-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence						negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.?(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGGACAAACTGAAATTAAG	0.358																																							uc002rcc.1		NA																	2	Unknown(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.e43-1		neuroblastoma-amplified protein							47.0	47.0	47.0					2																	15417226		2203	4300	6503	SO:0001630	splice_region_variant	51594							g.chr2:15417226C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5139-1G>T	2.37:g.15417226C>A						NBAS_uc010exl.1_Splice_Site_p.G785_splice|NBAS_uc002rcd.1_Splice_Site	p.G1713_splice	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			43	5165	-								O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Splice_Site	SNP	ENST00000281513.5	37	c.5139_splice	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614136	0.87359	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000442506	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7705	0.96361	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NBAS	15334677	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.873000	0.75541	2.756000	0.94617	0.655000	0.94253	.		0.358	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	Intron	10	79	1	0	0.000151284	0.001855	0.000166044	10	79				
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:15468435C>A	ENST00000281513.5	-	37	4374	c.4349G>T	c.(4348-4350)gGg>gTg	p.G1450V	NBAS_ENST00000441750.1_Splice_Site_p.G1330V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACATTTTTGCCCCTaaaaaga	0.388																																							uc002rcc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(4348-4350)GGG>GTG		neuroblastoma-amplified protein							115.0	110.0	112.0					2																	15468435		2203	4300	6503	SO:0001630	splice_region_variant	51594							g.chr2:15468435C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4348-1G>T	2.37:g.15468435C>A						NBAS_uc010exl.1_Missense_Mutation_p.G522V|NBAS_uc002rcd.1_RNA	p.G1450V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			37	4375	-			1450					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4349G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.764114|1.764114	0.31228|0.31228	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513	T|T;T	0.20738|0.11385	2.05|2.78;2.96	5.31|5.31	3.51|3.51	0.40186|0.40186	.|.	0.141685|0.141685	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.29620|0.29620	0.0739|0.0739	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.01309|0.01309	-1.1389|-1.1389	8|10	0.72032|0.87932	D|D	0.01|0	.|.	9.2273|9.2273	0.37414|0.37414	0.0:0.8289:0.0:0.1711|0.0:0.8289:0.0:0.1711	.|.	.|1330;1450	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	C|V	498|1330;1450	ENSP00000398411:G498C|ENSP00000413201:G1330V;ENSP00000281513:G1450V	ENSP00000398411:G498C|ENSP00000281513:G1450V	G|G	-|-	1|2	0|0	NBAS|NBAS	15385886|15385886	0.971000|0.971000	0.33674|0.33674	0.835000|0.835000	0.33067|0.33067	0.007000|0.007000	0.05969|0.05969	2.011000|2.011000	0.40922|0.40922	0.724000|0.724000	0.32296|0.32296	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.388	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	Missense_Mutation	78	457	1	0	8.60386e-38	0.00361	1.423e-37	78	457				
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:17836616C>A	ENST00000406397.1	+	4	1056	c.531C>A	c.(529-531)agC>agA	p.S177R	VSNL1_ENST00000295156.4_Missense_Mutation_p.S177R|VSNL1_ENST00000404666.2_Missense_Mutation_p.S177R			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443																																							uc002rcm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(529-531)AGC>AGA		visinin-like 1							124.0	105.0	111.0					2																	17836616		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17836616C>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.531C>A	2.37:g.17836616C>A	ENSP00000384719:p.Ser177Arg						p.S177R	NM_003385	NP_003376	P62760	VISL1_HUMAN			4	915	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		177			EF-hand 4.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.531C>A	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	c	11.76	1.736149	0.30774	.	.	ENSG00000163032	ENST00000404666;ENST00000295156;ENST00000406397	T;T;T	0.65732	-0.17;-0.17;-0.17	5.58	3.77	0.43336	EF-hand-like domain (1);	0.037546	0.85682	D	0.000000	T	0.45756	0.1358	N	0.25957	0.775	0.58432	D	0.999999	B	0.21225	0.053	B	0.19148	0.024	T	0.32134	-0.9918	10	0.21540	T	0.41	.	11.2225	0.48864	0.0:0.7896:0.0:0.2104	.	177	P62760	VISL1_HUMAN	R	177	ENSP00000384014:S177R;ENSP00000295156:S177R;ENSP00000384719:S177R	ENSP00000295156:S177R	S	+	3	2	VSNL1	17700097	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.446000	0.21694	1.370000	0.46153	-0.127000	0.14921	AGC		0.443	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		35	318	1	0	6.07928e-31	0.009718	9.65532e-31	35	318				
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:20482749C>T	ENST00000361078.2	-	11	1701	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PUM2_ENST00000338086.5_Missense_Mutation_p.G560D|PUM2_ENST00000536417.1_Missense_Mutation_p.G504D|PUM2_ENST00000319801.5_Missense_Mutation_p.G560D|PUM2_ENST00000403432.1_Missense_Mutation_p.G560D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	560	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.G560D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATAGCAGCACCCAAAGAGTT	0.428																																							uc002rds.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1678-1680)GGT>GAT		pumilio homolog 2							86.0	86.0	86.0					2																	20482749		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482749C>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1679G>A	2.37:g.20482749C>T	ENSP00000354370:p.Gly560Asp					PUM2_uc002rdt.1_Missense_Mutation_p.G560D|PUM2_uc002rdr.2_Missense_Mutation_p.G499D|PUM2_uc010yjy.1_Missense_Mutation_p.G560D|PUM2_uc002rdu.1_Missense_Mutation_p.G560D|PUM2_uc010yjz.1_Missense_Mutation_p.G499D	p.G560D	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			11	1702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		560			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1679G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.136499	0.94517	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.24908	1.85;2.17;2.4;2.11;1.85;1.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.45086	-0.9285	10	0.72032	D	0.01	-12.3376	20.8794	0.99867	0.0:1.0:0.0:0.0	.	504;560;560	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	D	560;560;560;451;560;504	ENSP00000338173:G560D;ENSP00000354370:G560D;ENSP00000326746:G560D;ENSP00000409905:G451D;ENSP00000385992:G560D;ENSP00000440093:G504D	ENSP00000326746:G560D	G	-	2	0	PUM2	20346230	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.523000	0.81856	2.941000	0.99782	0.655000	0.94253	GGT		0.428	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		20	84	0	0	0	0.002299	0	20	84				
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:21239499G>T	ENST00000233242.1	-	21	3271	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1048					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T1048T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATGTCATGGTAGCCTCAG	0.468																																							uc002red.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(3142-3144)ACC>ACA		apolipoprotein B precursor	Atorvastatin(DB01076)						114.0	101.0	106.0					2																	21239499		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21239499G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3144C>A	2.37:g.21239499G>T							p.T1048T	NM_000384	NP_000375	P04114	APOB_HUMAN			21	3272	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1048					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.3144C>A	CCDS1703.1																																																																																				0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			29	250	1	0	2.48696e-23	0.003271	3.69452e-23	29	250				
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:21245902G>T	ENST00000233242.1	-	18	2744	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	873					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L873M(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGCCACCAGTTCAGCCTGC	0.473																																							uc002red.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2617-2619)CTG>ATG		apolipoprotein B precursor	Atorvastatin(DB01076)						92.0	96.0	94.0					2																	21245902		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245902G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2617C>A	2.37:g.21245902G>T	ENSP00000233242:p.Leu873Met						p.L873M	NM_000384	NP_000375	P04114	APOB_HUMAN			18	2745	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		873					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2617C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277398	0.40294	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19938	2.11	5.51	4.64	0.57946	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.000000	0.48286	D	0.000183	T	0.48978	0.1530	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55704	-0.8099	10	0.66056	D	0.02	.	14.8779	0.70507	0.0694:0.0:0.9305:0.0	.	873	P04114	APOB_HUMAN	M	873	ENSP00000233242:L873M	ENSP00000233242:L873M	L	-	1	2	APOB	21099407	0.982000	0.34865	0.717000	0.30585	0.346000	0.29079	1.776000	0.38594	1.481000	0.48307	-0.137000	0.14449	CTG		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	103	1	0	9.31168e-06	0.001855	1.04756e-05	10	103				
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:27481082C>T	ENST00000233535.4	-	3	723	c.371G>A	c.(370-372)tGg>tAg	p.W124*	SLC30A3_ENST00000447008.2_Nonsense_Mutation_p.W119*	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	124					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.W124*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGAGCCAGAGGGAGAA	0.637																																							uc002rjk.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(370-372)TGG>TAG		solute carrier family 30 (zinc transporter),							60.0	62.0	61.0					2																	27481082		2203	4300	6503	SO:0001587	stop_gained	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481082C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.371G>A	2.37:g.27481082C>T	ENSP00000233535:p.Trp124*					SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Nonsense_Mutation_p.W119*	p.W124*	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			3	557	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		124			Helical; (Potential).		Q8TC03	Nonsense_Mutation	SNP	ENST00000233535.4	37	c.371G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847917	0.91277	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7377	17.2848	0.87138	0.0:1.0:0.0:0.0	.	.	.	.	X	124;119;75;111;102;75;75	.	ENSP00000233535:W124X	W	-	2	0	SLC30A3	27334586	1.000000	0.71417	0.998000	0.56505	0.679000	0.39708	7.796000	0.85898	2.768000	0.95171	0.561000	0.74099	TGG		0.637	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			7	22	0	0	0	0.004482	0	7	22				
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28464261G>T	ENST00000342045.2	+	10	992		c.e10+1		BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000344773.2_Splice_Site	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.?(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTTTGGCACGTAAGTTCTGC	0.438																																							uc002rlr.2		NA																	9	Unknown(9)		lung(6)|endometrium(3)	lung(1)|kidney(1)|skin(1)	3						c.e10+1		brain and reproductive organ-expressed (TNFRSF1A							169.0	137.0	148.0					2																	28464261		2203	4300	6503	SO:0001630	splice_region_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28464261G>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.851+1G>T	2.37:g.28464261G>T						BRE_uc002rlp.1_Splice_Site_p.T284_splice|BRE_uc002rlq.2_Splice_Site_p.T284_splice|BRE_uc002rls.2_Splice_Site_p.T284_splice|BRE_uc002rlt.2_Splice_Site_p.T284_splice|BRE_uc002rlu.2_Splice_Site_p.T284_splice|BRE_uc002rlv.2_Splice_Site_p.T146_splice	p.T284_splice	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			10	1169	+	Acute lymphoblastic leukemia(172;0.155)								Splice_Site	SNP	ENST00000342045.2	37	c.851_splice	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214499	0.95104	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BRE	28317765	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.058000	0.93896	2.826000	0.97356	0.655000	0.94253	.		0.438	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1		Intron	14	189	1	0	1.33834e-09	0.007413	1.61138e-09	14	189				
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28855858C>A	ENST00000327757.5	+	56	4094	c.4050C>A	c.(4048-4050)ttC>ttA	p.F1350L	AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000422425.2_Missense_Mutation_p.F1339L|PLB1_ENST00000541605.1_Missense_Mutation_p.F315L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1350	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.F1339L(2)|p.F1350L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTTTCACTTCTCAGACCGCG	0.562																																							uc002rmb.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(4048-4050)TTC>TTA		phospholipase B1 precursor							148.0	138.0	142.0					2																	28855858		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28855858C>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4050C>A	2.37:g.28855858C>A	ENSP00000330442:p.Phe1350Leu					PLB1_uc010ezj.1_Missense_Mutation_p.F1339L|PLB1_uc002rme.1_Missense_Mutation_p.F315L|PLB1_uc002rmf.1_RNA	p.F1350L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			56	4050	+	Acute lymphoblastic leukemia(172;0.155)		1350			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.4050C>A	CCDS33168.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.0|21.0|21.0	4.088440|4.088440|4.088440	0.76756|0.76756|0.76756	.|.|.	.|.|.	ENSG00000163803|ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605|ENST00000436775|ENST00000404858	T;T;T|.|.	0.13196|.|.	2.61;2.61;2.61|.|.	5.77|5.77|5.77	3.9|3.9|3.9	0.45041|0.45041|0.45041	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.|.	0.061993|.|.	0.64402|.|.	N|.|.	0.000005|.|.	T|T|T	0.60689|0.60689|0.60689	0.2288|0.2288|0.2288	L|L|L	0.52823|0.52823|0.52823	1.66|1.66|1.66	0.46774|0.46774|0.46774	D|D|D	0.999195|0.999195|0.999195	D;D|.|.	0.89917|.|.	0.999;1.0|.|.	D;D|.|.	0.85130|.|.	0.997;0.996|.|.	T|T|T	0.55952|0.55952|0.55952	-0.8059|-0.8059|-0.8059	10|5|5	0.02654|.|.	T|.|.	1|.|.	-17.9485|-17.9485|-17.9485	11.347|11.347|11.347	0.49567|0.49567|0.49567	0.3299:0.6701:0.0:0.0|0.3299:0.6701:0.0:0.0|0.3299:0.6701:0.0:0.0	.|.|.	1339;1350|.|.	Q6P1J6-3;Q6P1J6|.|.	.;PLB1_HUMAN|.|.	L|I|Y	1350;1339;315|78|1338	ENSP00000330442:F1350L;ENSP00000416440:F1339L;ENSP00000437426:F315L|.|.	ENSP00000330442:F1350L|.|.	F|L|S	+|+|+	3|1|2	2|0|0	PLB1|PLB1|PLB1	28709362|28709362|28709362	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.810000|0.810000|0.810000	0.45777|0.45777|0.45777	2.027000|2.027000|2.027000	0.41078|0.41078|0.41078	0.726000|0.726000|0.726000	0.32339|0.32339|0.32339	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	TTC|CTC|TCT		0.562	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			30	264	1	0	1.69901e-12	0.005524	2.17409e-12	30	264				
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28855888C>T	ENST00000327757.5	+	56	4124	c.4080C>T	c.(4078-4080)atC>atT	p.I1360I	AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000422425.2_Silent_p.I1349I|PLB1_ENST00000541605.1_Silent_p.I325I	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1360	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.I1349I(2)|p.I1360I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGATGGCCATCGCACTCTGGA	0.547																																							uc002rmb.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(4078-4080)ATC>ATT		phospholipase B1 precursor							112.0	103.0	106.0					2																	28855888		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28855888C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4080C>T	2.37:g.28855888C>T						PLB1_uc010ezj.1_Silent_p.I1349I|PLB1_uc002rme.1_Silent_p.I325I|PLB1_uc002rmf.1_RNA	p.I1360I	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			56	4080	+	Acute lymphoblastic leukemia(172;0.155)		1360			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.4080C>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.488|7.488	0.649997|0.649997	0.14516|0.14516	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000436775|ENST00000404858	.|.	.|.	.|.	5.77|5.77	-5.06|-5.06	0.02946|0.02946	.|.	.|.	.|.	.|.	.|.	T|T	0.51805|0.51805	0.1696|0.1696	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999989|0.999989	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51841|0.51841	-0.8654|-0.8654	4|4	.|.	.|.	.|.	-23.9906|-23.9906	9.7439|9.7439	0.40435|0.40435	0.0:0.3398:0.0973:0.5629|0.0:0.3398:0.0973:0.5629	.|.	.|.	.|.	.|.	C|L	88|1348	.|.	.|.	R|S	+|+	1|2	0|0	PLB1|PLB1	28709392|28709392	0.577000|0.577000	0.26708|0.26708	0.510000|0.510000	0.27712|0.27712	0.807000|0.807000	0.45602|0.45602	-0.616000|-0.616000	0.05591|0.05591	-1.199000|-1.199000	0.02666|0.02666	-1.134000|-1.134000	0.01955|0.01955	CGC|TCG		0.547	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			30	196	0	0	0	0.003271	0	30	196				
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:29551271C>A	ENST00000389048.3	-	6	2265	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	453	LDL-receptor class A.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q453H(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGTCACAGGCCTGCCCAAGCT	0.607			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1357-1359)CAG>CAT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						83.0	72.0	75.0					2																	29551271		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29551271C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1359G>T	2.37:g.29551271C>A	ENSP00000373700:p.Gln453His						p.Q453H	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			6	2266	-	Acute lymphoblastic leukemia(172;0.155)		453			LDL-receptor class A.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1359G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	18.16	3.562209	0.65538	.	.	ENSG00000171094	ENST00000389048	D	0.95377	-3.69	5.27	3.0	0.34707	.	0.000000	0.45361	U	0.000362	D	0.92756	0.7697	L	0.29908	0.895	0.80722	D	1	P	0.48834	0.916	P	0.52909	0.713	D	0.89390	0.3688	9	.	.	.	.	7.2135	0.25947	0.0:0.7388:0.0:0.2612	.	453	Q9UM73	ALK_HUMAN	H	453	ENSP00000373700:Q453H	.	Q	-	3	2	ALK	29404775	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	1.141000	0.31528	0.884000	0.36064	0.450000	0.29827	CAG		0.607	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		12	116	1	0	2.80697e-09	0.000978	3.36837e-09	12	116				
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:32477681G>T	ENST00000404025.2	-	4	557	c.69C>A	c.(67-69)atC>atA	p.I23I	NLRC4_ENST00000402280.1_Silent_p.I23I|NLRC4_ENST00000342905.6_Silent_p.I23I|NLRC4_ENST00000360906.5_Silent_p.I23I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	23	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I23I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTCATCTGTGATTTGCTTTA	0.393																																							uc002roi.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(67-69)ATC>ATA		caspase recruitment domain protein 12							123.0	113.0	117.0					2																	32477681		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32477681G>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.69C>A	2.37:g.32477681G>T						NLRC4_uc002roj.1_Silent_p.I23I|NLRC4_uc010ezt.1_Silent_p.I23I	p.I23I	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			3	315	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		23			LRR 1.|CARD.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.69C>A	CCDS33174.1																																																																																				0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		112	317	1	0	6.14176e-70	0.00361	1.1476e-69	112	317				
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:33359928G>T	ENST00000404816.2	+	5	1455	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	LTBP1_ENST00000402934.1_Missense_Mutation_p.G42C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G42C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G42C|LTBP1_ENST00000418533.2_Missense_Mutation_p.G42C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G42C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G368C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	368					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G368C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547																																							uc002ros.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1102-1104)GGC>TGC		latent transforming growth factor beta binding							103.0	89.0	94.0					2																	33359928		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33359928G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1102G>T	2.37:g.33359928G>T	ENSP00000386043:p.Gly368Cys					LTBP1_uc002rot.2_Missense_Mutation_p.G42C|LTBP1_uc002rou.2_Missense_Mutation_p.G42C|LTBP1_uc002rov.2_Missense_Mutation_p.G42C|LTBP1_uc010ymz.1_Missense_Mutation_p.G42C|LTBP1_uc010yna.1_Missense_Mutation_p.G42C	p.G368C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			5	1102	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	368					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1102G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609781	0.66558	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.84223	-1.82;-1.78;-1.63;-1.61;-1.64;-1.63;-1.6	5.57	5.57	0.84162	.	.	.	.	.	D	0.91250	0.7242	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.957;0.998;0.997;0.986;0.998	D	0.91841	0.5483	9	0.87932	D	0	.	15.0718	0.72042	0.0:0.1414:0.8586:0.0	.	368;42;42;42;42;368	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	C	368;368;57;42;42;42;42;42	ENSP00000386043:G368C;ENSP00000346467:G368C;ENSP00000374653:G42C;ENSP00000393057:G42C;ENSP00000384373:G42C;ENSP00000385359:G42C;ENSP00000384091:G42C	ENSP00000346467:G368C	G	+	1	0	LTBP1	33213432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.191000	0.72063	2.611000	0.88343	0.462000	0.41574	GGC		0.547	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		67	192	1	0	6.5469e-37	0.00361	1.07457e-36	67	192				
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:44145419C>G	ENST00000260665.7	-	28	3072	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Q1005H(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGGAACTTCCTGGTTACCCT	0.338																																							uc002rtr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3013-3015)CAG>CAC		leucine-rich PPR motif-containing protein							113.0	123.0	119.0					2																	44145419		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44145419C>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3015G>C	2.37:g.44145419C>G	ENSP00000260665:p.Gln1005His					LRPPRC_uc010yob.1_Missense_Mutation_p.Q905H	p.Q1005H	NM_133259	NP_573566	P42704	LPPRC_HUMAN			28	3073	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1005					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.3015G>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316658	0.60524	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.12984	2.63	6.02	3.24	0.37175	.	0.136997	0.51477	D	0.000081	T	0.29914	0.0748	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.981	T	0.18681	-1.0329	10	0.12766	T	0.61	-7.9978	9.0667	0.36467	0.0:0.6437:0.0:0.3563	.	905;1005	F5H4J6;P42704	.;LPPRC_HUMAN	H	905;1005	ENSP00000260665:Q1005H	ENSP00000260665:Q1005H	Q	-	3	2	LRPPRC	43998923	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.151000	0.31651	0.422000	0.26005	0.655000	0.94253	CAG		0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		33	121	0	0	0	0.00361	0	33	121				
LHCGR	3973	broad.mit.edu	37	2	48941147	48941147	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:48941147T>G	ENST00000294954.7	-	7	604	c.583A>C	c.(583-585)Aat>Cat	p.N195H	LHCGR_ENST00000401907.1_Missense_Mutation_p.N195H|LHCGR_ENST00000405626.1_Missense_Mutation_p.N195H|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.N195H|LHCGR_ENST00000403273.1_Missense_Mutation_p.N195H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	195					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.N195H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCGTCCCATTGAATGCATGA	0.378																																							uc002rwu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(583-585)AAT>CAT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						167.0	133.0	144.0					2																	48941147		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48941147T>G		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.583A>C	2.37:g.48941147T>G	ENSP00000294954:p.Asn195His					GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.N195H	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	653	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	195			LRR 4.|Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.583A>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773076	0.69992	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;T;D;D	0.91577	-2.87;-2.87;-1.49;-2.87;-2.87	5.52	5.52	0.82312	.	0.045508	0.85682	D	0.000000	D	0.93897	0.8047	L	0.59967	1.855	0.31479	N	0.66746	D	0.89917	1.0	D	0.91635	0.999	D	0.93238	0.6623	9	.	.	.	.	14.9764	0.71277	0.0:0.0:0.0:1.0	.	195	P22888	LSHR_HUMAN	H	195	ENSP00000344301:N195H;ENSP00000294954:N195H;ENSP00000386033:N195H;ENSP00000385847:N195H;ENSP00000385406:N195H	.	N	-	1	0	LHCGR	48794651	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.977000	0.63792	2.317000	0.78254	0.460000	0.39030	AAT		0.378	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		22	198	0	0	0	0.007291	0	22	198				
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:54893182G>T	ENST00000356805.4	+	34	7071	c.6790G>T	c.(6790-6792)Gtg>Ttg	p.V2264L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2264	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.V2264L(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCTGCGAAGTGGCCCTTGA	0.468																																							uc002rxu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(6790-6792)GTG>TTG		spectrin, beta, non-erythrocytic 1 isoform 1							137.0	137.0	137.0					2																	54893182		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54893182G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6790G>T	2.37:g.54893182G>T	ENSP00000349259:p.Val2264Leu					SPTBN1_uc010you.1_Missense_Mutation_p.V254L	p.V2264L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		34	7039	+			2264			PH.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6790G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608377	0.87258	.	.	ENSG00000115306	ENST00000356805	T	0.29917	1.55	5.61	5.61	0.85477	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.141870	0.47093	D	0.000243	T	0.34571	0.0902	L	0.52266	1.64	0.80722	D	1	B;B	0.18013	0.006;0.025	B;B	0.30782	0.027;0.12	T	0.13522	-1.0506	10	0.72032	D	0.01	.	14.8645	0.70404	0.0708:0.0:0.9292:0.0	.	254;2264	B4DIF8;Q01082	.;SPTB2_HUMAN	L	2264	ENSP00000349259:V2264L	ENSP00000349259:V2264L	V	+	1	0	SPTBN1	54746686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.266000	0.51569	2.638000	0.89438	0.655000	0.94253	GTG		0.468	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			29	349	1	0	3.67414e-24	0.002445	5.52656e-24	29	349				
USP34	9736	broad.mit.edu	37	2	61505418	61505418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:61505418C>A	ENST00000398571.2	-	41	5391	c.5315G>T	c.(5314-5316)aGg>aTg	p.R1772M		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1772					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R1772M(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGGATCTCCCTACTACAAAA	0.338																																							uc002sbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(5314-5316)AGG>ATG		ubiquitin specific protease 34							79.0	68.0	71.0					2																	61505418		1840	4087	5927	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61505418C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5315G>T	2.37:g.61505418C>A	ENSP00000381577:p.Arg1772Met					USP34_uc002sbf.2_Translation_Start_Site	p.R1772M	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		41	5337	-			1772					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5315G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001721	0.74932	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.04654	3.69;3.58	5.53	5.53	0.82687	.	0.052312	0.85682	D	0.000000	T	0.07728	0.0194	L	0.49126	1.545	0.58432	D	0.999998	P	0.47604	0.898	B	0.39876	0.312	T	0.04708	-1.0932	10	0.87932	D	0	.	17.6497	0.88159	0.0:1.0:0.0:0.0	.	1772	Q70CQ2	UBP34_HUMAN	M	1620;1620;1772;50	ENSP00000381577:R1772M;ENSP00000410559:R50M	ENSP00000263989:R1620M	R	-	2	0	USP34	61358922	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.569000	0.82380	2.607000	0.88179	0.563000	0.77884	AGG		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			27	81	1	0	1.61788e-16	0.002445	2.21178e-16	27	81				
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:69049651C>A	ENST00000295381.3	+	10	1796	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S420R|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S460R|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S452R|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S453R|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.S153R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	459					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.S453R(2)|p.S460R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCCAACAGCAGCAAAATGG	0.478																																							uc002seu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|breast(2)	4						c.(1375-1377)AGC>AGA		Rho GTPase activating protein 25 isoform a							87.0	89.0	88.0					2																	69049651		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69049651C>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1377C>A	2.37:g.69049651C>A	ENSP00000295381:p.Ser459Arg					ARHGAP25_uc010fdg.2_Missense_Mutation_p.S460R|ARHGAP25_uc010yql.1_Missense_Mutation_p.S420R|ARHGAP25_uc002sew.2_Missense_Mutation_p.S452R|ARHGAP25_uc002sex.2_Missense_Mutation_p.S453R|ARHGAP25_uc002sey.2_Missense_Mutation_p.S186R	p.S459R	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			10	1741	+			459					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1377C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.869814|1.869814	0.33069|0.33069	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844	.|T;T;T;T;T;T	.|0.25749	.|2.6;2.59;2.34;2.58;2.58;1.78	5.38|5.38	2.45|2.45	0.29901|0.29901	.|.	.|0.168368	.|0.52532	.|D	.|0.000080	T|T	0.16854|0.16854	0.0405|0.0405	L|L	0.32530|0.32530	0.975|0.975	0.42599|0.42599	D|D	0.993272|0.993272	.|P;P;P;B;B	.|0.43633	.|0.664;0.631;0.813;0.101;0.002	.|B;B;B;B;B	.|0.41135	.|0.143;0.348;0.348;0.019;0.017	T|T	0.03249|0.03249	-1.1056|-1.1056	5|10	.|0.41790	.|T	.|0.15	.|.	4.9201|4.9201	0.13865|0.13865	0.0:0.5015:0.2477:0.2507|0.0:0.5015:0.2477:0.2507	.|.	.|420;460;453;452;459	.|E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.|.;.;.;.;RHG25_HUMAN	E|R	319|459;460;420;452;453;453;444;153	.|ENSP00000295381:S459R;ENSP00000386911:S460R;ENSP00000420583:S420R;ENSP00000386863:S452R;ENSP00000386241:S453R;ENSP00000417467:S153R	.|ENSP00000295381:S459R	A|S	+|+	2|3	0|2	ARHGAP25|ARHGAP25	68903155|68903155	0.095000|0.095000	0.21747|0.21747	0.580000|0.580000	0.28601|0.28601	0.966000|0.966000	0.64601|0.64601	0.208000|0.208000	0.17415|0.17415	0.767000|0.767000	0.33267|0.33267	0.557000|0.557000	0.71058|0.71058	GCA|AGC		0.478	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		26	162	1	0	2.47511e-08	0.008361	2.91825e-08	26	162				
ALMS1	7840	broad.mit.edu	37	2	73827999	73827999	+	Missense_Mutation	SNP	T	T	G	rs45528134		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:73827999T>G	ENST00000264448.6	+	18	11971	c.11860T>G	c.(11860-11862)Tcc>Gcc	p.S3954A	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3912A|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3954					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAGAAGAATTCCCATGAAGG	0.403													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21601	0.0		0.0	False		,,,				2504	0.0						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11866-11868)TCC>GCC		Alstrom syndrome 1		T	ALA/SER	1,4405	2.1+/-5.4	0,1,2202	88.0	90.0	89.0		11860	4.2	0.0	2	dbSNP_127	89	0,8596		0,0,4298	no	missense	ALMS1	NM_015120.4	99	0,1,6500	GG,GT,TT		0.0,0.0227,0.0077	benign	3954/4168	73827999	1,13001	2203	4298	6501	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73827999T>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11860T>G	2.37:g.73827999T>G	ENSP00000264448:p.Ser3954Ala					ALMS1_uc002sjf.1_Missense_Mutation_p.S3912A|ALMS1_uc002sjh.1_Missense_Mutation_p.S3342A	p.S3956A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			20	11977	+			3954					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11866T>G	CCDS42697.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	0.009	-1.838020	0.00573	2.27E-4	0.0	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05580	3.42;3.42	5.3	4.16	0.48862	.	0.975478	0.08433	N	0.946677	T	0.04363	0.0120	N	0.22421	0.69	0.19575	N	0.999968	B;B	0.27732	0.025;0.187	B;B	0.28011	0.015;0.085	T	0.39623	-0.9605	10	0.02654	T	1	.	7.0748	0.25199	0.0:0.1014:0.0:0.8986	rs45528134	3912;3954	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	A	3912;3954	ENSP00000386627:S3912A;ENSP00000264448:S3954A	ENSP00000264448:S3954A	S	+	1	0	ALMS1	73681507	0.000000	0.05858	0.010000	0.14722	0.108000	0.19459	0.246000	0.18160	1.054000	0.40438	0.528000	0.53228	TCC		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	54	0	0	0	0.001882	0	7	54				
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:74043181C>A	ENST00000409561.1	+	3	1952	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.							p.Q581K(2)|p.Q611K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAGAAAAATCAACCTGAGCT	0.438																																							uc002sjr.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1831-1833)CAA>AAA		hypothetical protein LOC388960							87.0	84.0	85.0					2																	74043181		1860	4101	5961	SO:0001583	missense	388960							g.chr2:74043181C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1831C>A	2.37:g.74043181C>A	ENSP00000387124:p.Gln611Lys						p.Q611K	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1952	+			611			Lys-rich.			Missense_Mutation	SNP	ENST00000409561.1	37	c.1831C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281798	0.01398	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.13	3.29	0.37713	.	1.061350	0.07424	N	0.894460	T	0.46014	0.1371	M	0.71581	2.175	0.09310	N	1	P	0.49253	0.921	P	0.46543	0.52	T	0.27971	-1.0058	9	0.22109	T	0.4	-0.9301	6.5453	0.22402	0.0:0.7176:0.1853:0.097	.	611	A6NCI8	CB078_HUMAN	K	611;581	.	ENSP00000340692:Q581K	Q	+	1	0	C2orf78	73896689	0.010000	0.17322	0.007000	0.13788	0.021000	0.10359	1.224000	0.32539	1.284000	0.44531	-0.302000	0.09304	CAA		0.438	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		35	118	1	0	4.90274e-10	0.00623	5.96279e-10	35	118				
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:77745831G>A	ENST00000409093.1	-	3	1500	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	LRRTM4_ENST00000409884.1_Silent_p.T388T|LRRTM4_ENST00000409088.3_Silent_p.T388T|LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409911.1_Silent_p.T389T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473																																							uc002snr.2		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(3)|ovary(1)	4						c.(1162-1164)ACC>ACT		leucine rich repeat transmembrane neuronal 4							152.0	145.0	147.0					2																	77745831		1882	4111	5993	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745831G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1164C>T	2.37:g.77745831G>A						LRRTM4_uc002snq.2_Silent_p.T388T|LRRTM4_uc002sns.2_Silent_p.T388T|LRRTM4_uc002snt.2_Silent_p.T389T	p.T388T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1579	-			388			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1164C>T	CCDS46346.1																																																																																				0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		16	58	0	0	0	0.008871	0	16	58				
REG3A	5068	broad.mit.edu	37	2	79384728	79384728	+	Missense_Mutation	SNP	C	C	T	rs199786695	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79384728C>T	ENST00000409839.3	-	5	466	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	REG3A_ENST00000305165.2_Missense_Mutation_p.G144S|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.G144S	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.G144S(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACAGTGGCCGGGGCTTGAG	0.542													C|||	3	0.000599042	0.0	0.0043	5008	,	,		17055	0.0		0.0	False		,,,				2504	0.0						uc002sod.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(430-432)GGC>AGC		pancreatitis-associated protein precursor							106.0	106.0	106.0					2																	79384728		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384728C>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.430G>A	2.37:g.79384728C>T	ENSP00000386630:p.Gly144Ser					REG3A_uc002soe.1_Missense_Mutation_p.G144S|REG3A_uc002sof.1_Missense_Mutation_p.G144S	p.G144S	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	685	-			144			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.430G>A	CCDS1965.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.70	3.195463	0.58126	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18174	2.23;2.23;2.23	3.87	3.87	0.44632	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.122449	0.37348	N	0.002139	T	0.26991	0.0661	L	0.54965	1.715	0.09310	N	1	D	0.53745	0.962	P	0.53722	0.733	T	0.03483	-1.1032	10	0.72032	D	0.01	.	11.5972	0.50981	0.0:1.0:0.0:0.0	.	144	Q06141	REG3A_HUMAN	S	144	ENSP00000386630:G144S;ENSP00000377456:G144S;ENSP00000304311:G144S	ENSP00000304311:G144S	G	-	1	0	REG3A	79238236	0.038000	0.19896	0.005000	0.12908	0.002000	0.02628	2.985000	0.49362	2.451000	0.82905	0.491000	0.48974	GGC		0.542	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		8	233	0	0	0	0.00308	0	8	233				
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79384784C>A	ENST00000409839.3	-	5	410	c.374G>T	c.(373-375)aGt>aTt	p.S125I	REG3A_ENST00000305165.2_Missense_Mutation_p.S125I|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.S125I	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.S125I(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCACATCACTGCTACTCCA	0.542																																							uc002sod.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(373-375)AGT>ATT		pancreatitis-associated protein precursor							135.0	127.0	130.0					2																	79384784		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384784C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.374G>T	2.37:g.79384784C>A	ENSP00000386630:p.Ser125Ile					REG3A_uc002soe.1_Missense_Mutation_p.S125I|REG3A_uc002sof.1_Missense_Mutation_p.S125I	p.S125I	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	629	-			125			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.374G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224777	0.39300	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.19250	2.16;2.16;2.16	3.87	-6.19	0.02078	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.522520	0.01365	N	0.012378	T	0.22627	0.0546	M	0.72894	2.215	0.09310	N	1	P	0.36535	0.557	B	0.33339	0.162	T	0.41945	-0.9480	10	0.72032	D	0.01	.	8.4492	0.32860	0.0:0.2355:0.1738:0.5907	.	125	Q06141	REG3A_HUMAN	I	125	ENSP00000386630:S125I;ENSP00000377456:S125I;ENSP00000304311:S125I	ENSP00000304311:S125I	S	-	2	0	REG3A	79238292	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.642000	0.00863	-1.356000	0.02183	-0.479000	0.04858	AGT		0.542	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		67	225	1	0	1.34568e-36	0.00361	2.19868e-36	67	225				
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:80530120C>A	ENST00000295057.3	-	2	1481	c.825G>T	c.(823-825)gtG>gtT	p.V275V	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.V275V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V275V(4)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGTCTCGAACACATGGGGCT	0.582										HNSCC(69;0.2)																													uc002sok.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(823-825)GTG>GTT		leucine rich repeat transmembrane neuronal 1							77.0	76.0	76.0					2																	80530120		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530120C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.825G>T	2.37:g.80530120C>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.V275V	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1095	-			275			LRR 8.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.825G>T	CCDS1966.1																																																																																				0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		8	28	1	0	0.00448238	0.004482	0.00470454	8	28				
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:80816575G>T	ENST00000402739.4	+	14	2159	c.2154G>T	c.(2152-2154)atG>atT	p.M718I	CTNNA2_ENST00000466387.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M752I|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M397I|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M718I|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M718I|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000595478.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	718					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.M718I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAAGCAGATGTGTATGATCA	0.458																																							uc010ysh.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2152-2154)ATG>ATT		catenin, alpha 2 isoform 1							124.0	133.0	130.0					2																	80816575		2200	4300	6500	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816575G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2154G>T	2.37:g.80816575G>T	ENSP00000384638:p.Met718Ile					CTNNA2_uc010yse.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysf.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysg.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysi.1_Missense_Mutation_p.M350I|CTNNA2_uc010ysj.1_Missense_Mutation_p.M47I	p.M718I	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2159	+			718					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2154G>T		.	.	.	.	.	.	.	.	.	.	G	32	5.157885	0.94686	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	M	0.88450	2.955	0.80722	D	1	P;D;D;P	0.56035	0.768;0.961;0.974;0.841	P;P;P;P	0.59012	0.584;0.85;0.786;0.69	T	0.78378	-0.2227	9	.	.	.	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	350;718;718;718	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	I	718;718;752;718;718;718;397	ENSP00000418191:M718I;ENSP00000419295:M718I;ENSP00000355398:M752I;ENSP00000384638:M718I;ENSP00000444675:M718I;ENSP00000441705:M718I;ENSP00000341500:M397I	.	M	+	3	0	CTNNA2	80670086	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.780000	0.95670	0.655000	0.94253	ATG		0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		106	408	1	0	3.6033e-41	0.00361	6.0522e-41	106	408				
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:86678331A>G	ENST00000409556.1	+	5	813	c.448A>G	c.(448-450)Ata>Gta	p.I150V	KDM3A_ENST00000542128.1_Missense_Mutation_p.I98V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I150V|KDM3A_ENST00000312912.5_Missense_Mutation_p.I150V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	150					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.I150V(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTGAAGCCTATACAGGTAAA	0.363																																					NSCLC(96;1150 1523 6936 46253 49736)	NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NA																	4	Substitution - Missense(4)		lung(4)	breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(448-450)ATA>GTA		jumonji domain containing 1A							57.0	55.0	56.0					2																	86678331		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86678331A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.448A>G	2.37:g.86678331A>G	ENSP00000386660:p.Ile150Val					KDM3A_uc010ytj.1_Missense_Mutation_p.I150V|KDM3A_uc010ytk.1_Missense_Mutation_p.I98V	p.I150V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			4	775	+			150					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.448A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976606	0.34848	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000427678;ENST00000542128	T;T;T;T	0.59502	0.29;0.29;0.29;0.26	5.77	5.77	0.91146	.	0.063176	0.64402	D	0.000004	T	0.45296	0.1335	L	0.31294	0.92	0.35580	D	0.806246	B;B	0.24258	0.1;0.06	B;B	0.23574	0.047;0.021	T	0.51818	-0.8657	9	.	.	.	.	13.4601	0.61223	1.0:0.0:0.0:0.0	.	98;150	F5H070;Q9Y4C1	.;KDM3A_HUMAN	V	150;150;150;150;150;98	ENSP00000386660:I150V;ENSP00000323659:I150V;ENSP00000386516:I150V;ENSP00000438324:I98V	.	I	+	1	0	KDM3A	86531842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.650000	0.46665	2.200000	0.70718	0.533000	0.62120	ATA		0.363	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		7	53	0	0	0	0.00308	0	7	53				
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:86718115C>T	ENST00000409556.1	+	25	4050	c.3685C>T	c.(3685-3687)Caa>Taa	p.Q1229*	KDM3A_ENST00000542128.1_Nonsense_Mutation_p.Q1177*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.Q1229*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1229	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q1229*(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTATGGAGTTCAAGGCTGGGC	0.423																																					NSCLC(96;1150 1523 6936 46253 49736)	NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NA																	4	Substitution - Nonsense(4)		lung(4)	breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(3685-3687)CAA>TAA		jumonji domain containing 1A							126.0	118.0	121.0					2																	86718115		2203	4300	6503	SO:0001587	stop_gained	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86718115C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3685C>T	2.37:g.86718115C>T	ENSP00000386660:p.Gln1229*					KDM3A_uc010ytj.1_Nonsense_Mutation_p.Q1229*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.Q1177*	p.Q1229*	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			24	4012	+			1229			JmjC.		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Nonsense_Mutation	SNP	ENST00000409556.1	37	c.3685C>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	41	8.629453	0.98892	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	.	.	.	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	17.4252	0.87525	0.0:1.0:0.0:0.0	.	.	.	.	X	1229;1229;1229;1229;1177	.	ENSP00000323659:Q1229X	Q	+	1	0	KDM3A	86571626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.427000	0.82271	0.655000	0.94253	CAA		0.423	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		58	520	0	0	0	0.00361	0	58	520				
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:95945675G>T	ENST00000317620.9	+	11	1490	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	PROM2_ENST00000542147.1_Missense_Mutation_p.G453C|PROM2_ENST00000403131.2_Missense_Mutation_p.G453C|PROM2_ENST00000317668.4_Missense_Mutation_p.G453C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	453					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.G453C(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGCATCTGGGGCCTGTCTGC	0.642																																							uc002suh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1357-1359)GGC>TGC		prominin 2 precursor							94.0	74.0	81.0					2																	95945675		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95945675G>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1357G>T	2.37:g.95945675G>T	ENSP00000318270:p.Gly453Cys					PROM2_uc002sui.2_Missense_Mutation_p.G453C|PROM2_uc002suj.2_Missense_Mutation_p.G107C|PROM2_uc002suk.2_Missense_Mutation_p.G453C|PROM2_uc002sul.2_5'UTR|PROM2_uc002sum.2_RNA	p.G453C	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			11	1490	+			453			Cytoplasmic (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1357G>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192971	0.78902	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.58	5.58	0.84498	.	0.171974	0.41500	D	0.000871	D	0.93331	0.7874	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93462	0.6811	10	0.56958	D	0.05	-37.933	15.0722	0.72046	0.0:0.0:1.0:0.0	.	453	Q8N271	PROM2_HUMAN	C	453	ENSP00000385716:G453C;ENSP00000318520:G453C;ENSP00000318270:G453C;ENSP00000442542:G453C	ENSP00000318270:G453C	G	+	1	0	PROM2	95309402	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.300000	0.78841	2.630000	0.89119	0.655000	0.94253	GGC		0.642	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	26	1	0	0.004672	0.004672	0.00487985	3	26				
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:96801117G>C	ENST00000342380.2	-	3	215	c.216C>G	c.(214-216)ttC>ttG	p.F72L		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.F72L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCGATGAGGAAGCTGCTCT	0.607																																							uc010yui.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(214-216)TTC>TTG		astacin-like metalloendopeptidase precursor							101.0	86.0	91.0					2																	96801117		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96801117G>C	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.216C>G	2.37:g.96801117G>C	ENSP00000343674:p.Phe72Leu						p.F72L	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			3	216	-			72						Missense_Mutation	SNP	ENST00000342380.2	37	c.216C>G	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	7.079	0.569778	0.13560	.	.	ENSG00000188886	ENST00000342380	T	0.63744	-0.06	4.42	1.48	0.22813	.	0.134219	0.33772	N	0.004567	T	0.49575	0.1565	L	0.34521	1.04	0.20975	N	0.999814	P	0.45902	0.868	P	0.46718	0.525	T	0.39333	-0.9619	10	0.22109	T	0.4	-12.6259	6.7732	0.23604	0.3309:0.0:0.6691:0.0	.	72	Q6HA08	ASTL_HUMAN	L	72	ENSP00000343674:F72L	ENSP00000343674:F72L	F	-	3	2	ASTL	96164844	1.000000	0.71417	0.920000	0.36463	0.020000	0.10135	0.389000	0.20751	0.093000	0.17368	-0.143000	0.13931	TTC		0.607	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			4	22	0	0	0	0.001168	0	4	22				
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:96858109C>G	ENST00000337288.5	-	6	1224	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	281	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)	p.E281Q(2)|p.E206Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AAACTCACCTCATCAAATGAC	0.493																																							uc002svm.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(841-843)GAG>CAG		START domain containing 7 precursor							163.0	154.0	157.0					2																	96858109		2203	4300	6503	SO:0001583	missense	56910					mitochondrion		g.chr2:96858109C>G	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.841G>C	2.37:g.96858109C>G	ENSP00000338030:p.Glu281Gln					STARD7_uc002svl.2_Missense_Mutation_p.E59Q	p.E281Q	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN			6	1242	-			281			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	c.841G>C	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	33	5.276954	0.95459	.	.	ENSG00000084090	ENST00000337288	T	0.31510	1.49	5.91	5.91	0.95273	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	L	0.40543	1.245	0.80722	D	1	P	0.49090	0.919	P	0.51055	0.657	T	0.01371	-1.1372	10	0.33141	T	0.24	-28.2687	15.7986	0.78433	0.0:1.0:0.0:0.0	.	281	Q9NQZ5	STAR7_HUMAN	Q	281	ENSP00000338030:E281Q	ENSP00000338030:E281Q	E	-	1	0	STARD7	96221836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.904000	0.75708	2.793000	0.96121	0.655000	0.94253	GAG		0.493	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			78	241	0	0	0	0.00361	0	78	241				
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:99804653G>T	ENST00000338148.3	+	3	263	c.65G>T	c.(64-66)gGt>gTt	p.G22V	MRPL30_ENST00000409145.1_Missense_Mutation_p.G22V|MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000410042.1_Missense_Mutation_p.G22V|C2orf15_ENST00000512183.2_Missense_Mutation_p.G22V	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	22						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.G22V(2)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAAGGTGTGGAGTCT	0.313																																							uc002szu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(64-66)GGT>GTT		RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;							51.0	51.0	51.0					2																	99804653		2203	4298	6501	SO:0001583	missense	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99804653G>T	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.65G>T	2.37:g.99804653G>T	ENSP00000338057:p.Gly22Val					MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.G22V|MRPL30_uc002szt.1_Intron|MRPL30_uc002szv.2_Missense_Mutation_p.G22V	p.G22V	NM_145213	NP_660214	Q8TCC3	RM30_HUMAN			3	227	+			22					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	c.65G>T	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886397	0.17540	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409145;ENST00000409841	T;T;T	0.49139	0.79;0.79;0.79	5.31	4.41	0.53225	.	0.786016	0.12186	N	0.491693	T	0.46718	0.1407	M	0.64997	1.995	0.47905	D	0.999545	P;P	0.45474	0.664;0.859	B;P	0.45829	0.299;0.494	T	0.19712	-1.0297	10	0.16420	T	0.52	-7.19	8.3809	0.32470	0.1712:0.0:0.8288:0.0	.	22;22	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	V	22;35;22;22;22;22	ENSP00000420959:G22V;ENSP00000338057:G22V;ENSP00000386752:G22V	ENSP00000312464:G35V	G	+	2	0	C2orf15;MRPL30	99171085	0.003000	0.15002	0.981000	0.43875	0.024000	0.10985	0.443000	0.21644	2.759000	0.94783	0.643000	0.83706	GGT		0.313	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			18	77	1	0	7.4402e-23	0.003954	1.10225e-22	18	77				
REV1	51455	broad.mit.edu	37	2	100058928	100058928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:100058928G>C	ENST00000258428.3	-	5	582	c.354C>G	c.(352-354)atC>atG	p.I118M	REV1_ENST00000393445.3_Missense_Mutation_p.I118M|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	118	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.I118M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCAGCTTTGATGCTGAAAC	0.413								Direct reversal of damage																															uc002tad.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(352-354)ATC>ATG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							111.0	104.0	106.0					2																	100058928		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100058928G>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.354C>G	2.37:g.100058928G>C	ENSP00000258428:p.Ile118Met					REV1_uc002tac.2_Missense_Mutation_p.I118M|REV1_uc002tae.1_Missense_Mutation_p.I97M	p.I118M	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			5	566	-			118			BRCT.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.354C>G	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272799	0.59649	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	D;D	0.82893	-1.66;-1.66	5.59	2.35	0.29111	BRCT (4);	0.096495	0.64402	D	0.000002	D	0.90293	0.6964	M	0.91872	3.25	0.49051	D	0.999742	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.994;0.998;0.983	D	0.87744	0.2587	10	0.87932	D	0	.	3.8707	0.09035	0.2958:0.0:0.4288:0.2754	.	97;118;118	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	M	118	ENSP00000377091:I118M;ENSP00000258428:I118M	ENSP00000258428:I118M	I	-	3	3	REV1	99425360	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	0.332000	0.19751	0.733000	0.32492	0.655000	0.94253	ATC		0.413	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		7	228	0	0	0	0.008291	0	7	228				
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:108604640C>A	ENST00000264047.2	+	2	305	c.29C>A	c.(28-30)gCt>gAt	p.A10D	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A10D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	10					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.A10D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGACTGATAGCTATCATCGTG	0.443																																							uc002tdv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(28-30)GCT>GAT		solute carrier family 5 (choline transporter),	Choline(DB00122)						152.0	142.0	145.0					2																	108604640		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108604640C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.29C>A	2.37:g.108604640C>A	ENSP00000264047:p.Ala10Asp					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.A10D|SLC5A7_uc010ywn.1_Intron	p.A10D	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			2	305	+			10			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.29C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120160	0.94385	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.92048	-2.96;-2.96	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	M	0.86178	2.8	0.80722	D	1	D	0.63046	0.992	D	0.64237	0.923	D	0.96179	0.9129	10	0.66056	D	0.02	-3.4075	20.0887	0.97806	0.0:1.0:0.0:0.0	.	10	Q9GZV3	SC5A7_HUMAN	D	10	ENSP00000387346:A10D;ENSP00000264047:A10D	ENSP00000264047:A10D	A	+	2	0	SLC5A7	107971072	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	GCT		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			49	162	1	0	7.91745e-34	0.00361	1.27434e-33	49	162				
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:113089158C>G	ENST00000409871.1	+	12	3064	c.2663C>G	c.(2662-2664)cCt>cGt	p.P888R	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.P888R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	888							metal ion binding (GO:0046872)	p.P888R(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTCCAGTACCTTTACCTAAA	0.403																																							uc002thq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(2662-2664)CCT>CGT		zinc finger CCCH-type domain containing 6							73.0	66.0	68.0					2																	113089158		1884	4100	5984	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089158C>G	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2663C>G	2.37:g.113089158C>G	ENSP00000386764:p.Pro888Arg						p.P888R	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			12	3057	+			888					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.2663C>G	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297254	0.60086	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.29917	1.55;1.55	5.97	5.97	0.96955	.	0.054254	0.85682	D	0.000000	T	0.58366	0.2117	M	0.69823	2.125	0.48341	D	0.999638	D	0.89917	1.0	D	0.73708	0.981	T	0.58031	-0.7708	10	0.87932	D	0	-15.9966	20.4214	0.99039	0.0:1.0:0.0:0.0	.	888	P61129	ZC3H6_HUMAN	R	888;888;865	ENSP00000386764:P888R;ENSP00000340298:P888R	ENSP00000340298:P888R	P	+	2	0	ZC3H6	112805629	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	5.551000	0.67274	2.820000	0.97059	0.655000	0.94253	CCT		0.403	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		20	69	0	0	0	0.001882	0	20	69				
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:114257955A>T	ENST00000306507.5	+	1	1295	c.1122A>T	c.(1120-1122)ggA>ggT	p.G374G		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G374G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATCAGGAGGAGGACTGCGCC	0.687																																							uc002tjw.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1120-1122)GGA>GGT		forkhead box D4-like 1							46.0	53.0	51.0					2																	114257955		2140	4145	6285	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257955A>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.1122A>T	2.37:g.114257955A>T							p.G374G	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	1295	+			374					B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.1122A>T	CCDS2117.1																																																																																				0.687	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		4	49	0	0	0	0.009096	0	4	49				
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:122106236T>A	ENST00000263710.4	-	38	4654	c.4265A>T	c.(4264-4266)cAg>cTg	p.Q1422L	CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1355L|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q1139L|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1362L|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1378L|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1361L|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q1129L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1422	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.Q1422L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATGCACTGCTCCGGGTG	0.587																																							uc002tnc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(4264-4266)CAG>CTG		CLIP-associating protein 1 isoform 1							86.0	101.0	96.0					2																	122106236		2182	4281	6463	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122106236T>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4265A>T	2.37:g.122106236T>A	ENSP00000263710:p.Gln1422Leu					CLASP1_uc010yyv.1_Missense_Mutation_p.Q468L|CLASP1_uc002tmz.2_Missense_Mutation_p.Q507L|CLASP1_uc002tna.2_Missense_Mutation_p.Q468L|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.Q1363L|CLASP1_uc010yza.1_Missense_Mutation_p.Q1355L|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.Q258L	p.Q1422L	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			37	4655	-	Renal(3;0.0496)		1422			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.4265A>T		.	.	.	.	.	.	.	.	.	.	T	16.56	3.157237	0.57259	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.72	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.054529	0.85682	N	0.000000	T	0.65344	0.2682	L	0.36672	1.1	0.80722	D	1	B;D;B	0.63880	0.007;0.993;0.005	B;D;B	0.66497	0.022;0.944;0.034	T	0.60182	-0.7313	10	0.07644	T	0.81	-9.4789	14.1776	0.65552	0.0:0.0:0.0:1.0	.	1355;1362;1422	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	L	1422;1378;1362;1361;1139;1355;1129	ENSP00000263710:Q1422L;ENSP00000389372:Q1378L;ENSP00000380717:Q1362L;ENSP00000441625:Q1361L;ENSP00000441770:Q1139L;ENSP00000386442:Q1355L;ENSP00000438620:Q1129L	ENSP00000263710:Q1422L	Q	-	2	0	CLASP1	121822706	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.717000	0.84732	1.758000	0.51981	0.379000	0.24179	CAG		0.587	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		13	60	0	0	0	0.003163	0	13	60				
TUBA3E	112714	broad.mit.edu	37	2	130951377	130951377	+	Missense_Mutation	SNP	C	C	G	rs148936100	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:130951377C>G	ENST00000312988.7	-	4	1138	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	346					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGTCGGGCACCAATCCACAA	0.542													.|||	2	0.000399361	0.0	0.0014	5008	,	,		20543	0.0		0.001	False		,,,				2504	0.0						uc002tqv.2		NA																	0				skin(1)	1						c.(1036-1038)TGG>TGC		tubulin, alpha 3e		C	CYS/TRP	1,4405	2.1+/-5.4	0,1,2202	118.0	100.0	106.0		1038	3.0	1.0	2	dbSNP_134	106	11,8589	8.4+/-32.0	0,11,4289	no	missense	TUBA3E	NM_207312.2	215	0,12,6491	GG,GC,CC		0.1279,0.0227,0.0923	probably-damaging	346/451	130951377	12,12994	2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951377C>G	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1038G>C	2.37:g.130951377C>G	ENSP00000318197:p.Trp346Cys						p.W346C	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	1139	-	Colorectal(110;0.1)		346						Missense_Mutation	SNP	ENST00000312988.7	37	c.1038G>C	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	11.52	1.662089	0.29515	2.27E-4	0.001279	ENSG00000152086	ENST00000312988	D	0.95342	-3.68	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.50627	U	0.000109	D	0.98283	0.9431	H	0.99286	4.5	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98119	1.0424	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	346	Q6PEY2	TBA3E_HUMAN	C	346	ENSP00000318197:W346C	ENSP00000318197:W346C	W	-	3	0	TUBA3E	130667847	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	4.989000	0.63870	1.668000	0.50843	0.455000	0.32223	TGG		0.542	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		3	79	0	0	0	0.004672	0	3	79				
NCKAP5	344148	broad.mit.edu	37	2	133554252	133554252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:133554252C>A	ENST00000409261.1	-	12	1231	c.858G>T	c.(856-858)gaG>gaT	p.E286D	NCKAP5_ENST00000405974.3_Missense_Mutation_p.E286D|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E286D|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E286D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	286								p.E286D(1)|p.E125D(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						TTCTTTCCACCTCTGAAAGCA	0.408																																							uc002ttp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(856-858)GAG>GAT		Nck-associated protein 5 isoform 1							73.0	72.0	72.0					2																	133554252		1902	4119	6021	SO:0001583	missense	344148						protein binding	g.chr2:133554252C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.858G>T	2.37:g.133554252C>A	ENSP00000387128:p.Glu286Asp					NCKAP5_uc002ttq.2_Missense_Mutation_p.E286D	p.E286D	NM_207363	NP_997246	O14513	NCKP5_HUMAN			12	1232	-			286					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.858G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510960	0.27036	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.49432	2.74;0.78;2.74;0.78	5.35	-1.92	0.07618	.	.	.	.	.	T	0.17323	0.0416	N	0.02539	-0.55	0.19945	N	0.999949	B;B	0.17038	0.001;0.02	B;B	0.16722	0.005;0.016	T	0.15435	-1.0437	9	0.30854	T	0.27	.	2.6991	0.05143	0.1466:0.4128:0.289:0.1517	.	286;286	O14513-2;O14513	.;NCKP5_HUMAN	D	286	ENSP00000387128:E286D;ENSP00000386952:E286D;ENSP00000380603:E286D;ENSP00000385692:E286D	ENSP00000380603:E286D	E	-	3	2	NCKAP5	133270722	0.000000	0.05858	0.677000	0.29947	0.989000	0.77384	-0.762000	0.04745	-0.465000	0.06953	-0.345000	0.07892	GAG		0.408	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	88	1	0	0.000673444	0.008291	0.000722264	8	88				
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:136393555A>T	ENST00000264160.4	+	10	1164	c.794A>T	c.(793-795)aAa>aTa	p.K265I	R3HDM1_ENST00000329971.3_Missense_Mutation_p.K221I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.K221I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.K265I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.K209I	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	265	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.						poly(A) RNA binding (GO:0044822)	p.K265I(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTTTGACAAAGATGATAAC	0.323																																							uc002tuo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(793-795)AAA>ATA		R3H domain containing 1							91.0	103.0	98.0					2																	136393555		2203	4299	6502	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136393555A>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.794A>T	2.37:g.136393555A>T	ENSP00000264160:p.Lys265Ile					R3HDM1_uc010fni.2_Missense_Mutation_p.K263I|R3HDM1_uc002tup.2_Missense_Mutation_p.K209I|R3HDM1_uc010zbh.1_Missense_Mutation_p.K97I	p.K265I	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	10	1164	+			265					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.794A>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.227474|4.227474	0.79576|0.79576	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000456040	T;T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86;0.86|.	5.31|5.31	5.31|5.31	0.75309|0.75309	SUZ domain (1);|.	0.094831|0.094831	0.64402|0.64402	D|D	0.000001|0.000001	T|.	0.57666|.	0.2069|.	L|L	0.59436|0.59436	1.845|1.845	0.25905|0.25905	N|N	0.983305|0.983305	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.974;0.972;0.999;0.999|.	T|.	0.57136|.	-0.7863|.	10|.	0.54805|0.72032	T|D	0.06|0.01	-14.1496|-14.1496	15.5595|15.5595	0.76229|0.76229	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	221;265;209;265|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	I|X	221;221;265;221;209;265|248	ENSP00000386457:K221I;ENSP00000264160:K265I;ENSP00000331396:K221I;ENSP00000386877:K209I;ENSP00000387010:K265I|.	ENSP00000264160:K265I|ENSP00000405668:K248X	K|K	+|+	2|1	0|0	R3HDM1|R3HDM1	136110025|136110025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.044000|5.044000	0.64214|0.64214	2.126000|2.126000	0.65437|0.65437	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.323	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		42	141	0	0	0	0.00361	0	42	141				
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:152512820G>A	ENST00000172853.10	-	49	6489	c.6342C>T	c.(6340-6342)caC>caT	p.H2114H	NEB_ENST00000409198.1_Silent_p.H2114H|NEB_ENST00000427231.2_Silent_p.H2114H|NEB_ENST00000604864.1_Silent_p.H2114H|NEB_ENST00000603639.1_Silent_p.H2114H|NEB_ENST00000397345.3_Silent_p.H2114H			P20929	NEBU_HUMAN	nebulin	2114					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.H2114H(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGCAGGGGTGTGGTAGCTGG	0.478																																							uc010fnx.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(6340-6342)CAC>CAT		nebulin isoform 3							257.0	258.0	258.0					2																	152512820		2101	4229	6330	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512820G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6342C>T	2.37:g.152512820G>A							p.H2114H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	49	6533	-			2114			Nebulin 56.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.6342C>T																																																																																					0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		95	290	0	0	0	0.00361	0	95	290				
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	545	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383																																							uc010fph.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1633-1635)GAA>AAA		polypeptide N-acetylgalactosaminyltransferase 3							139.0	121.0	127.0					2																	166606398		2203	4299	6502	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166606398C>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1633G>A	2.37:g.166606398C>T	ENSP00000376465:p.Glu545Lys						p.E545K	NM_004482	NP_004473	Q14435	GALT3_HUMAN			10	2020	-			545			Ricin B-type lectin.|Lumenal (Potential).		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1633G>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768422	0.90020	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	T;T	0.26957	1.7;1.7	5.43	5.43	0.79202	Ricin B-related lectin (1);Ricin B lectin (3);	0.054208	0.64402	D	0.000001	T	0.44159	0.1280	M	0.84585	2.705	0.80722	D	1	B	0.27380	0.177	B	0.39935	0.314	T	0.40270	-0.9572	10	0.17832	T	0.49	.	19.2459	0.93902	0.0:1.0:0.0:0.0	.	545	Q14435	GALT3_HUMAN	K	545;283	ENSP00000376465:E545K;ENSP00000386955:E283K	ENSP00000376465:E545K	E	-	1	0	GALNT3	166314644	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.814000	0.86154	2.551000	0.86045	0.655000	0.94253	GAA		0.383	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		16	513	0	0	0	0.008871	0	16	513				
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:166896013C>A	ENST00000303395.4	-	14	2508	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G826C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G837C|SCN1A_ENST00000409050.1_Missense_Mutation_p.G809C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	837					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G837C(2)|p.G826C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAATAAAACCGTCAAAGATA	0.363																																							uc010zcz.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(6)|large_intestine(1)	13						c.(2476-2478)GGT>TGT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						79.0	78.0	78.0					2																	166896013		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166896013C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2509G>T	2.37:g.166896013C>A	ENSP00000303540:p.Gly837Cys					SCN1A_uc002udo.3_Missense_Mutation_p.G706C|SCN1A_uc010fpk.2_Missense_Mutation_p.G678C	p.G826C	NM_006920	NP_008851	P35498	SCN1A_HUMAN			14	2494	-			837			II.|Helical; Name=S3 of repeat II; (By similarity).		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2476G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078638	0.55753	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	4.66	3.76	0.43208	Ion transport (1);	0.294548	0.29451	N	0.012118	D	0.96128	0.8738	N	0.05554	-0.025	0.50467	D	0.999875	D;D;B	0.57571	0.975;0.98;0.001	P;P;B	0.59595	0.78;0.86;0.026	D	0.94969	0.8115	10	0.35671	T	0.21	.	12.4706	0.55785	0.0:0.9176:0.0:0.0824	.	826;809;837	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	837;837;826;809	ENSP00000407030:G837C;ENSP00000303540:G837C;ENSP00000364554:G826C;ENSP00000386312:G809C	ENSP00000303540:G837C	G	-	1	0	SCN1A	166604259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.071000	0.50041	2.307000	0.77673	0.650000	0.86243	GGT		0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		19	88	1	0	7.41877e-09	0.001882	8.85334e-09	19	88				
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:167133545T>A	ENST00000409435.1	-	15	2821	c.2822A>T	c.(2821-2823)cAa>cTa	p.Q941L	SCN9A_ENST00000375387.4_Missense_Mutation_p.Q942L|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q930L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q942L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	941					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.Q930L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCACATAGCTTGACCAGCGAC	0.448																																							uc010fpl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(2788-2790)CAA>CTA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						254.0	235.0	241.0					2																	167133545		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133545T>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2822A>T	2.37:g.167133545T>A	ENSP00000386330:p.Gln941Leu					uc002udp.2_Intron	p.Q930L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			16	3130	-			941			II.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2789A>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.929262	0.92389	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.65	5.65	0.86999	.	0.000000	0.35096	N	0.003453	D	0.96207	0.8763	L	0.39245	1.2	0.58432	D	0.999999	P	0.51449	0.945	P	0.49999	0.628	D	0.96809	0.9595	10	0.87932	D	0	.	16.175	0.81844	0.0:0.0:0.0:1.0	.	930	E7EUN6	.	L	930;942;942;941	ENSP00000386306:Q930L;ENSP00000364536:Q942L;ENSP00000304748:Q942L;ENSP00000386330:Q941L	ENSP00000304748:Q942L	Q	-	2	0	SCN9A	166841791	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	7.947000	0.87758	2.274000	0.75844	0.528000	0.53228	CAA		0.448	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		108	738	0	0	0	0.00361	0	108	738				
TTC30B	150737	broad.mit.edu	37	2	178416257	178416257	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:178416257G>A	ENST00000408939.3	-	1	1485	c.1235C>T	c.(1234-1236)gCa>gTa	p.A412V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	412					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTCATTCACTGCCTTTTTGAT	0.413																																							uc002uln.2		NA																	0					0						c.(1234-1236)GCA>GTA		tetratricopeptide repeat domain 30B							263.0	270.0	267.0					2																	178416257		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416257G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1235C>T	2.37:g.178416257G>A	ENSP00000386181:p.Ala412Val					TTC30B_uc010zfc.1_Missense_Mutation_p.A184V	p.A412V	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1268	-			412			TPR 5.		Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1235C>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875341	0.33162	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.38240	1.15	4.53	4.53	0.55603	Tetratricopeptide-like helical (1);	0.207572	0.49916	D	0.000121	T	0.43897	0.1268	M	0.77406	2.37	0.58432	D	0.999994	B	0.12013	0.005	B	0.14023	0.01	T	0.47249	-0.9132	10	0.52906	T	0.07	.	17.8012	0.88587	0.0:0.0:1.0:0.0	.	412	Q8N4P2	TT30B_HUMAN	V	365;412	ENSP00000386181:A412V	ENSP00000386181:A412V	A	-	2	0	TTC30B	178124503	0.997000	0.39634	0.997000	0.53966	0.988000	0.76386	5.064000	0.64338	2.513000	0.84729	0.655000	0.94253	GCA		0.413	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		10	658	0	0	0	0.003163	0	10	658				
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	G	T	rs377160175		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179259071G>T	ENST00000190611.4	+	24	2981	c.2605G>T	c.(2605-2607)Gca>Tca	p.A869S	OSBPL6_ENST00000409045.3_Missense_Mutation_p.A838S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A894S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A833S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A833S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A873S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	869					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.A894S(2)|p.A869S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGCTGCAGCATCAGAGAA	0.348																																							uc002ulx.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(2605-2607)GCA>TCA		oxysterol-binding protein-like protein 6 isoform							107.0	122.0	117.0					2																	179259071		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179259071G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2605G>T	2.37:g.179259071G>T	ENSP00000190611:p.Ala869Ser					OSBPL6_uc002uly.2_Missense_Mutation_p.A894S|OSBPL6_uc010zfe.1_Missense_Mutation_p.A838S|OSBPL6_uc002ulz.2_Missense_Mutation_p.A833S|OSBPL6_uc002uma.2_Missense_Mutation_p.A873S	p.A869S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		24	2983	+			869					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2605G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399187	0.62177	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	6.07	6.07	0.98685	.	0.156649	0.64402	D	0.000017	T	0.19485	0.0468	N	0.05078	-0.115	0.41152	D	0.986039	B;B;B;B;B	0.18166	0.002;0.004;0.006;0.026;0.007	B;B;B;B;B	0.16289	0.008;0.003;0.012;0.015;0.005	T	0.10776	-1.0615	10	0.23302	T	0.38	-16.8199	20.6525	0.99598	0.0:0.0:1.0:0.0	.	838;873;833;894;869	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	S	894;833;838;869;833;873	ENSP00000376293:A894S;ENSP00000352713:A833S;ENSP00000387248:A838S;ENSP00000190611:A869S;ENSP00000386885:A833S;ENSP00000318723:A873S	ENSP00000190611:A869S	A	+	1	0	OSBPL6	178967317	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.995000	0.57001	2.890000	0.99128	0.585000	0.79938	GCA		0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		59	171	1	0	2.72187e-29	0.00361	4.2727e-29	59	171				
TTN	7273	broad.mit.edu	37	2	179443719	179443719	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179443719T>C	ENST00000591111.1	-	270	63339	c.63115A>G	c.(63115-63117)Atc>Gtc	p.I21039V	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20112V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13740V|TTN_ENST00000460472.2_Missense_Mutation_p.I13615V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I13807V|TTN_ENST00000589042.1_Missense_Mutation_p.I22680V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21039	Fibronectin type-III 52. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I20110V(1)|p.I13740V(1)|p.I20112V(1)|p.I13615V(1)|p.I13807V(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)			TTCTCTAGGATATAGTTGGTG	0.478																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(60334-60336)ATC>GTC		titin isoform N2-A							93.0	90.0	91.0					2																	179443719		1958	4141	6099	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443719T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63115A>G	2.37:g.179443719T>C	ENSP00000465570:p.Ile21039Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I13807V|TTN_uc010zfi.1_Missense_Mutation_p.I13740V|TTN_uc010zfj.1_Missense_Mutation_p.I13615V|uc002umv.1_5'UTR	p.I20112V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	60558	-			21039					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60334A>G		.	.	.	.	.	.	.	.	.	.	T	9.792	1.178285	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.76	3.34	0.38264	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39784	0.1091	L	0.31207	0.915	0.41281	D	0.986919	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.10450	0.002;0.002;0.002;0.005	T	0.21690	-1.0238	9	0.87932	D	0	.	9.4029	0.38444	0.0:0.2129:0.0:0.7871	.	13615;13740;13807;21039	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20112;13615;13807;13740;13613	ENSP00000343764:I20112V;ENSP00000434586:I13615V;ENSP00000340554:I13807V;ENSP00000352154:I13740V	ENSP00000340554:I13807V	I	-	1	0	TTN	179151965	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.315000	0.51951	0.424000	0.26061	0.528000	0.53228	ATC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	86	0	0	0	0.001368	0	11	86				
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179592523C>T	ENST00000591111.1	-	66	19055	c.18831G>A	c.(18829-18831)aaG>aaA	p.K6277K	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.K5350K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.K6594K			Q8WZ42	TITIN_HUMAN	titin	13054	Ig-like 44.				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.K5350K(2)		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)			TTAGTATTGCCTTAAATTCCA	0.373																																							uc010zfg.1		NA																	2	Substitution - coding silent(2)		lung(2)	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.(16048-16050)AAG>AAA		titin isoform N2-A							114.0	112.0	113.0					2																	179592523		1852	4090	5942	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592523C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18831G>A	2.37:g.179592523C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2011K	p.K5350K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	16274	-			6277					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.16050G>A																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	152	0	0	0	0.00361	0	64	152				
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	T	rs150716378		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:182784139G>T	ENST00000431877.2	+	14	3289	c.3110G>T	c.(3109-3111)cGc>cTc	p.R1037L	SSFA2_ENST00000409136.1_Missense_Mutation_p.R546L|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.R1037L|SSFA2_ENST00000320370.7_Missense_Mutation_p.R1037L|SSFA2_ENST00000428267.2_Missense_Mutation_p.R884L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1037						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1037L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17139	0.0		0.0	False		,,,				2504	0.0						uc002uoi.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3109-3111)CGC>CTC		sperm specific antigen 2 isoform 1		G	LEU/ARG,LEU/ARG	7,4399	12.9+/-30.5	0,7,2196	122.0	123.0	123.0		3110,3110	-2.8	0.0	2	dbSNP_134	123	0,8600		0,0,4300	no	missense,missense	SSFA2	NM_001130445.1,NM_006751.5	102,102	0,7,6496	TT,TG,GG		0.0,0.1589,0.0538	benign,benign	1037/1260,1037/1257	182784139	7,12999	2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182784139G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3110G>T	2.37:g.182784139G>T	ENSP00000388731:p.Arg1037Leu					SSFA2_uc002uoh.2_Missense_Mutation_p.R1037L|SSFA2_uc002uoj.2_Missense_Mutation_p.R1037L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R884L|SSFA2_uc002uol.2_Missense_Mutation_p.R884L|SSFA2_uc002uom.2_Missense_Mutation_p.R505L	p.R1037L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		14	3432	+			1037			Potential.		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.3110G>T	CCDS46467.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.17	2.753675	0.49362	0.001589	0.0	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000457421	T;T;T;T;T	0.16196	2.6;2.37;2.66;2.66;2.36	5.99	-2.81	0.05805	.	0.981338	0.08396	N	0.952142	T	0.17195	0.0413	L	0.54323	1.7	0.09310	N	1	P;P;P;P;P	0.35844	0.524;0.524;0.524;0.524;0.524	B;B;B;B;B	0.38378	0.272;0.272;0.185;0.185;0.185	T	0.32587	-0.9901	10	0.45353	T	0.12	2.4433	8.5548	0.33474	0.5959:0.1096:0.2946:0.0	.	884;546;1037;1037;1037	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	L	1037;1037;1037;884;546;41	ENSP00000388731:R1037L;ENSP00000314669:R1037L;ENSP00000387319:R1037L;ENSP00000409867:R884L;ENSP00000386916:R546L	ENSP00000314669:R1037L	R	+	2	0	SSFA2	182492384	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.598000	0.24074	-0.445000	0.07159	-0.136000	0.14681	CGC		0.532	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		7	222	1	0	0.00448238	0.004482	0.00470454	7	222				
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:187626258G>T	ENST00000304698.5	+	8	1392	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	397						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.V397F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTTGAGGTCCTCAAGAG	0.358																																							uc002ups.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(1189-1191)GTC>TTC		KIAA1946							138.0	148.0	144.0					2																	187626258		2197	4294	6491	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626258G>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1189G>T	2.37:g.187626258G>T	ENSP00000304108:p.Val397Phe					FAM171B_uc002upr.1_Missense_Mutation_p.V397F|FAM171B_uc002upt.2_5'Flank	p.V397F	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	1301	+			397			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1189G>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732626	0.48939	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.32515	1.45	5.93	3.94	0.45596	.	0.119263	0.56097	D	0.000025	T	0.36248	0.0960	L	0.43152	1.355	0.44798	D	0.997808	P;P	0.51537	0.946;0.946	P;P	0.55055	0.767;0.767	T	0.03818	-1.1001	10	0.36615	T	0.2	-6.6177	8.7697	0.34724	0.2514:0.0:0.7486:0.0	.	397;398	Q6P995;A8K122	F171B_HUMAN;.	F	397	ENSP00000304108:V397F	ENSP00000272804:V397F	V	+	1	0	FAM171B	187334503	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	2.036000	0.41165	0.694000	0.31654	0.655000	0.94253	GTC		0.358	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		89	265	1	0	1.2136e-71	0.00361	2.2755e-71	89	265				
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189849689G>T	ENST00000304636.3	+	2	452		c.e2+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.?(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCCAACTGCTGTGAGTTTAAA	0.388																																							uc002uqj.1		NA																	2	Unknown(2)		lung(2)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.e2+1		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						52.0	46.0	48.0					2																	189849689		2203	4299	6502	SO:0001630	splice_region_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189849689G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.282+1G>T	2.37:g.189849689G>T							p.A94_splice	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		2	399	+								D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Splice_Site	SNP	ENST00000304636.3	37	c.282_splice	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797938	0.50208	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0896	0.89471	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL3A1	189557934	1.000000	0.71417	0.996000	0.52242	0.660000	0.38997	3.831000	0.55776	2.644000	0.89710	0.467000	0.42956	.		0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	Intron	11	25	1	0	6.42651e-13	0.000978	8.30219e-13	11	25				
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189872628G>A	ENST00000304636.3	+	46	3551	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1127	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.Q1127Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CTGGTCAGCAGGGTGCAATCG	0.463																																							uc002uqj.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(3379-3381)CAG>CAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						74.0	76.0	76.0					2																	189872628		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189872628G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3381G>A	2.37:g.189872628G>A							p.Q1127Q	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		46	3498	+			1127			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.3381G>A	CCDS2297.1																																																																																				0.463	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		61	74	0	0	0	0.00361	0	61	74				
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189904126G>A	ENST00000374866.3	-	51	4071	c.3797C>T	c.(3796-3798)cCa>cTa	p.P1266L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|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)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1266L(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGAACCCCTGGGTCCGTTTT	0.517																																							uc002uqk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3796-3798)CCA>CTA		alpha 2 type V collagen preproprotein							99.0	88.0	92.0					2																	189904126		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189904126G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3797C>T	2.37:g.189904126G>A	ENSP00000364000:p.Pro1266Leu					COL5A2_uc010frx.2_Missense_Mutation_p.P842L	p.P1266L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		51	4072	-			1266			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3797C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558757	0.27827	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.83419	-1.72	5.28	5.28	0.74379	Fibrillar collagen, C-terminal (2);	0.000000	0.48286	D	0.000198	T	0.81945	0.4930	N	0.25201	0.72	0.80722	D	1	D;D	0.62365	0.982;0.991	P;P	0.55667	0.781;0.781	T	0.78748	-0.2083	10	0.19147	T	0.46	.	18.9001	0.92439	0.0:0.0:1.0:0.0	.	906;1266	Q5PR22;P05997	.;CO5A2_HUMAN	L	1266;906	ENSP00000364000:P1266L	ENSP00000364000:P1266L	P	-	2	0	COL5A2	189612371	1.000000	0.71417	0.986000	0.45419	0.430000	0.31655	7.804000	0.85993	2.451000	0.82905	0.655000	0.94253	CCA		0.517	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		24	48	0	0	0	0.005443	0	24	48				
ZDBF2	57683	broad.mit.edu	37	2	207172847	207172847	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:207172847G>A	ENST00000374423.3	+	5	3981	c.3595G>A	c.(3595-3597)Gta>Ata	p.V1199I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1199							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGGTTCTGAAGTAAGTTTTGA	0.418																																							uc002vbp.2		NA																	0				ovary(3)	3						c.(3595-3597)GTA>ATA		zinc finger, DBF-type containing 2							99.0	95.0	96.0					2																	207172847		1910	4139	6049	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172847G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3595G>A	2.37:g.207172847G>A	ENSP00000363545:p.Val1199Ile						p.V1199I	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	3845	+			1199					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3595G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	0.289	-0.981570	0.02197	.	.	ENSG00000204186	ENST00000374423	T	0.44083	0.93	4.1	0.583	0.17417	.	.	.	.	.	T	0.15912	0.0383	N	0.04297	-0.235	0.22888	N	0.99861	B	0.09022	0.002	B	0.06405	0.002	T	0.30387	-0.9980	9	0.06757	T	0.87	.	6.5019	0.22174	0.5812:0.0:0.4188:0.0	.	1199	Q9HCK1	ZDBF2_HUMAN	I	1199	ENSP00000363545:V1199I	ENSP00000363545:V1199I	V	+	1	0	ZDBF2	206881092	0.999000	0.42202	0.983000	0.44433	0.621000	0.37620	0.300000	0.19156	0.101000	0.17610	-1.027000	0.02421	GTA		0.418	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		5	174	0	0	0	0.00308	0	5	174				
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:209302554C>A	ENST00000272847.2	+	4	572	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	120					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.A120D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	AAAACATGGGCCAATTATTCA	0.403																																							uc002vdb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(358-360)GCC>GAC		parathyroid hormone 2 receptor precursor							96.0	92.0	93.0					2																	209302554		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302554C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.359C>A	2.37:g.209302554C>A	ENSP00000272847:p.Ala120Asp					PTH2R_uc010zjb.1_Missense_Mutation_p.A131D	p.A120D	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	4	572	+			120			Extracellular (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.359C>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397848	0.83120	.	.	ENSG00000144407	ENST00000272847	T	0.62941	-0.01	5.07	5.07	0.68467	GPCR, family 2, extracellular hormone receptor domain (3);	0.130493	0.31709	N	0.007196	T	0.74935	0.3782	M	0.80422	2.495	0.37655	D	0.922562	P;P	0.51537	0.923;0.946	P;P	0.54460	0.594;0.753	T	0.79509	-0.1774	10	0.42905	T	0.14	.	16.297	0.82782	0.0:1.0:0.0:0.0	.	9;120	B4DFN8;P49190	.;PTH2R_HUMAN	D	120	ENSP00000272847:A120D	ENSP00000272847:A120D	A	+	2	0	PTH2R	209010799	0.999000	0.42202	0.972000	0.41901	0.740000	0.42216	3.275000	0.51639	2.509000	0.84616	0.467000	0.42956	GCC		0.403	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		12	176	1	0	1.99824e-07	0.00499	2.31307e-07	12	176				
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378																																							uc002vft.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(478-480)CCT>TCT		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						130.0	123.0	125.0					2																	216923646		2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216923646G>A	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.478C>T	2.37:g.216923646G>A	ENSP00000265322:p.Pro160Ser					PECR_uc010zjq.1_Intron|PECR_uc002vfr.2_Missense_Mutation_p.P22S|PECR_uc002vfs.2_Missense_Mutation_p.P14S	p.P160S	NM_018441	NP_060911	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	546	-		Renal(323;0.0327)	160					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.478C>T	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	G	2.455	-0.325359	0.05350	.	.	ENSG00000115425	ENST00000265322	T	0.41400	1.0	5.77	-6.36	0.01969	NAD(P)-binding domain (1);	0.997042	0.08128	N	0.993586	T	0.12050	0.0293	N	0.01202	-0.96	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.41413	-0.9510	10	0.08599	T	0.76	.	9.7823	0.40656	0.0643:0.5789:0.1357:0.2211	.	160;14	Q9BY49;Q9BY49-2	PECR_HUMAN;.	S	160	ENSP00000265322:P160S	ENSP00000265322:P160S	P	-	1	0	PECR	216631891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.742000	0.04850	-0.735000	0.04837	-2.537000	0.00180	CCT		0.378	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		33	74	0	0	0	0.007835	0	33	74				
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:219492945A>T	ENST00000450993.2	+	7	1305	c.966A>T	c.(964-966)ggA>ggT	p.G322G	PLCD4_ENST00000432688.1_Silent_p.G322G|PLCD4_ENST00000417849.1_Silent_p.G322G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGTCGAGGGATATATACGGT	0.512																																							uc002vij.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(964-966)GGA>GGT		phospholipase C, delta 4							127.0	123.0	124.0					2																	219492945		2033	4181	6214	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219492945A>T	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.966A>T	2.37:g.219492945A>T						PLCD4_uc002vik.1_Silent_p.G169G|PLCD4_uc010zkk.1_Intron	p.G322G	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1161	+		Renal(207;0.0915)	322			PI-PLC X-box.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.966A>T	CCDS46516.1																																																																																				0.512	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			9	190	0	0	0	0.001368	0	9	190				
TTLL4	9654	broad.mit.edu	37	2	219611895	219611895	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:219611895G>A	ENST00000392102.1	+	9	2484	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	TTLL4_ENST00000442769.1_Intron|TTLL4_ENST00000457313.1_Missense_Mutation_p.R550H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R715H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	715	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.R715H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGCAGCAGCCGCCAAAAGTGG	0.542																																					GBM(172;1818 2053 15407 20943 49753)	GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2143-2145)CGC>CAC		tubulin tyrosine ligase-like family, member 4							52.0	56.0	55.0					2																	219611895		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219611895G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2144G>A	2.37:g.219611895G>A	ENSP00000375951:p.Arg715His					TTLL4_uc010zkl.1_Missense_Mutation_p.R550H|TTLL4_uc010fvx.2_Intron|TTLL4_uc010zkm.1_5'UTR	p.R715H	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	9	2514	+		Renal(207;0.0915)	715			TTL.		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.2144G>A	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.898650|3.898650	0.72639|0.72639	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000448224|ENST00000457313;ENST00000392102;ENST00000258398	.|T;T;T	.|0.08008	.|3.14;3.14;3.14	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|2.052620	.|0.01831	.|N	.|0.034737	T|T	0.15046|0.15046	0.0363|0.0363	L|L	0.53729|0.53729	1.69|1.69	0.52099|0.52099	D|D	0.999943|0.999943	.|B;B	.|0.32573	.|0.376;0.112	.|B;B	.|0.29716	.|0.106;0.066	T|T	0.28902|0.28902	-1.0029|-1.0029	5|10	.|0.52906	.|T	.|0.07	.|.	14.5068|14.5068	0.67758|0.67758	0.0717:0.0:0.9283:0.0|0.0717:0.0:0.9283:0.0	.|.	.|550;715	.|E9PH58;Q14679	.|.;TTLL4_HUMAN	T|H	47|550;715;715	.|ENSP00000393332:R550H;ENSP00000375951:R715H;ENSP00000258398:R715H	.|ENSP00000258398:R715H	A|R	+|+	1|2	0|0	TTLL4|TTLL4	219320139|219320139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.566000|2.566000	0.45948|0.45948	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		3	37	0	0	0	0.004672	0	3	37				
TUBA4B	80086	broad.mit.edu	37	2	220136384	220136384	+	RNA	SNP	T	T	C	rs533362502		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220136384T>C	ENST00000490341.1	+	0	854					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										TGGCAGAGATTACCAATGCCT	0.552													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21794	0.0		0.0	False		,,,				2504	0.0						uc002vkv.1		NA																	0					0						c.(688-690)TTA>TCA		RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B;																																						80086							g.chr2:220136384T>C	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136384T>C						TUBA4B_uc002vku.2_RNA	p.L230S	NR_003063						4	854	+									Missense_Mutation	SNP	ENST00000490341.1	37	c.689T>C																																																																																					0.552	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		3	68	0	0	0	0.006214	0	3	68				
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	G	T	rs201143360	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220353298G>T	ENST00000312358.7	+	33	8069	c.7937G>T	c.(7936-7938)cGg>cTg	p.R2646L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R2646L(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCATCCCCCGGGCGGGCAAG	0.642																																							uc010fwg.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(7936-7938)CGG>CTG		SPEG complex locus							47.0	53.0	51.0					2																	220353298		2077	4209	6286	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220353298G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7937G>T	2.37:g.220353298G>T	ENSP00000311684:p.Arg2646Leu						p.R2646L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	33	7937	+		Renal(207;0.0183)	2646			Ig-like 9.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.7937G>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474707	0.43942	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.74106	-0.81	4.37	4.37	0.52481	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35677	N	0.003059	T	0.67316	0.2880	L	0.38692	1.165	0.80722	D	1	D	0.52996	0.957	P	0.50754	0.649	T	0.66548	-0.5896	10	0.39692	T	0.17	.	4.5664	0.12189	0.1441:0.2264:0.6294:0.0	.	2646	Q15772	SPEG_HUMAN	L	2646	ENSP00000311684:R2646L	ENSP00000265327:R2646L	R	+	2	0	SPEG	220061542	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	4.225000	0.58600	2.268000	0.75426	0.563000	0.77884	CGG		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	13	1	0	1.024e-07	0.000602	1.19172e-07	4	13				
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	C	G	rs149014949		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220404338C>G	ENST00000243776.6	-	4	2343	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E537Q	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.E699Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGCTCCTCTTCTTGTTCT	0.647																																							uc002vmc.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2095-2097)GAG>CAG		chondroitin polymerizing factor		C	GLN/GLU,GLN/GLU	0,4406		0,0,2203	48.0	54.0	52.0		1609,2095	4.6	1.0	2	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CHPF	NM_001195731.1,NM_024536.5	29,29	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	537/614,699/776	220404338	2,13004	2203	4300	6503	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404338C>G	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.2095G>C	2.37:g.220404338C>G	ENSP00000243776:p.Glu699Gln					CHPF_uc010zlh.1_Missense_Mutation_p.E537Q	p.E699Q	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2322	-		Renal(207;0.0183)	699			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.2095G>C	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181872	0.57800	0.0	2.33E-4	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.17213	2.29;2.29	4.57	4.57	0.56435	.	0.062472	0.64402	D	0.000008	T	0.36054	0.0953	L	0.57536	1.79	0.54753	D	0.999985	D	0.56746	0.977	D	0.63381	0.914	T	0.02444	-1.1158	10	0.33940	T	0.23	-24.8711	17.9229	0.88973	0.0:1.0:0.0:0.0	.	699	Q8IZ52	CHSS2_HUMAN	Q	699;537	ENSP00000243776:E699Q;ENSP00000445571:E537Q	ENSP00000243776:E699Q	E	-	1	0	CHPF	220112582	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.837000	0.69381	2.544000	0.85801	0.561000	0.74099	GAG		0.647	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		4	51	0	0	0	0.00308	0	4	51				
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652																																							uc002vmp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(946-948)CGG>CAG		solute carrier family 4, anion exchanger, member							26.0	31.0	30.0					2																	220496825		2197	4297	6494	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496825G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.947G>A	2.37:g.220496825G>A	ENSP00000350756:p.Arg316Gln					SLC4A3_uc002vmn.2_Missense_Mutation_p.R343Q|SLC4A3_uc002vmo.3_Missense_Mutation_p.R343Q|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR	p.R316Q	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1216	+		Renal(207;0.0183)	316			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.947G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569750	0.86439	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	4.43	4.43	0.53597	.	0.141390	0.45867	D	0.000327	T	0.51227	0.1662	L	0.35854	1.095	0.38534	D	0.949048	D;D	0.64830	0.994;0.988	P;P	0.54372	0.707;0.75	T	0.58487	-0.7628	10	0.59425	D	0.04	.	15.0118	0.71555	0.0:0.0:1.0:0.0	.	316;343	P48751;P48751-3	B3A3_HUMAN;.	Q	316;316;343;343;316;118	ENSP00000350756:R316Q;ENSP00000362865:R316Q;ENSP00000273063:R343Q;ENSP00000362867:R343Q;ENSP00000314006:R316Q;ENSP00000414722:R118Q	ENSP00000273063:R343Q	R	+	2	0	SLC4A3	220205069	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.568000	0.67385	2.291000	0.77112	0.561000	0.74099	CGG		0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		5	11	0	0	0	0.001984	0	5	11				
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	C	A	rs202012720		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:224463262C>A	ENST00000305409.2	-	2	971	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.		A -> V (in MEN1; almost complete loss of histone methylation; loss of JUND- binding; no repression of JUND transactivation). {ECO:0000269|PubMed:14992727, ECO:0000269|PubMed:9989505}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.G247*(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGTCTTCTCCCCCGACCACA	0.413																																							uc002vnm.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(739-741)GGA>TGA		secretogranin II precursor							220.0	220.0	220.0					2																	224463262		2203	4300	6503	SO:0001587	stop_gained	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463262C>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.739G>T	2.37:g.224463262C>A	ENSP00000304133:p.Gly247*						p.G247*	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	872	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	247					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000305409.2	37	c.739G>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	37	6.457704	0.97581	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	.	.	.	5.74	5.74	0.90152	.	0.183902	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	.	.	.	X	247;107	.	ENSP00000304133:G247X	G	-	1	0	SCG2	224171506	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.676000	0.68131	2.712000	0.92718	0.650000	0.86243	GGA		0.413	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		168	543	1	0	3.92034e-43	0.00361	6.67819e-43	168	543				
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:230341871A>G	ENST00000341772.4	-	7	1380	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.C416R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACACTGGCAGGTGAATCCA	0.378																																							uc002vpv.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|skin(1)	8						c.(1246-1248)TGC>CGC		delta-notch-like EGF repeat-containing							75.0	74.0	75.0					2																	230341871		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230341871A>G	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1246T>C	2.37:g.230341871A>G	ENSP00000345229:p.Cys416Arg					DNER_uc010zly.1_Missense_Mutation_p.C144R	p.C416R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	7	1393	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	416			Extracellular (Potential).|EGF-like 5.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1246T>C	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702735	0.68501	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.99992	-12.4	5.95	5.95	0.96441	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.087293	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99993	1.4806	10	0.87932	D	0	.	15.4041	0.74863	1.0:0.0:0.0:0.0	.	416	Q8NFT8	DNER_HUMAN	R	416;144	ENSP00000345229:C416R	ENSP00000345229:C416R	C	-	1	0	DNER	230050115	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.282000	0.72639	2.285000	0.76669	0.533000	0.62120	TGC		0.378	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		17	66	0	0	0	0.007835	0	17	66				
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:238726701C>T	ENST00000409864.1	+	3	1396	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBM44_ENST00000316997.4_Missense_Mutation_p.S381F|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.S381F(4)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTCAAACTTCCTGGACCTCT	0.378																																							uc002vxi.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)	4						c.(1141-1143)TCC>TTC		RNA binding motif protein 44							55.0	56.0	56.0					2																	238726701		1850	4104	5954	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726701C>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1142C>T	2.37:g.238726701C>T	ENSP00000386727:p.Ser381Phe						p.S381F	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1274	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	380					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1142C>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661771	0.47572	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.26067	1.76;1.76	5.64	2.76	0.32466	.	0.429788	0.22532	N	0.058824	T	0.23171	0.0560	M	0.64997	1.995	0.09310	N	1	B	0.23185	0.081	B	0.20384	0.029	T	0.27938	-1.0059	10	0.72032	D	0.01	-0.3341	4.7722	0.13162	0.1565:0.6117:0.1509:0.0809	.	380	Q6ZP01	RBM44_HUMAN	F	381	ENSP00000321179:S381F;ENSP00000386727:S381F	ENSP00000321179:S381F	S	+	2	0	RBM44	238391440	0.001000	0.12720	0.022000	0.16811	0.781000	0.44180	1.190000	0.32126	0.288000	0.22398	0.591000	0.81541	TCC		0.378	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		9	70	0	0	0	0.008291	0	9	70				
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:240066294G>A	ENST00000345617.3	-	8	1641	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	HDAC4_ENST00000541256.1_Missense_Mutation_p.P253S|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P284S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACATCCAACGGACGCTTTTTT	0.577																																							uc002vyk.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|skin(2)|ovary(1)	6						c.(850-852)CCG>TCG		histone deacetylase 4							107.0	101.0	103.0					2																	240066294		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240066294G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.850C>T	2.37:g.240066294G>A	ENSP00000264606:p.Pro284Ser					HDAC4_uc010fyz.1_Missense_Mutation_p.P279S|HDAC4_uc010zoa.1_Missense_Mutation_p.P279S|HDAC4_uc010fza.2_Missense_Mutation_p.P284S|HDAC4_uc010fyy.2_Missense_Mutation_p.P236S|HDAC4_uc010znz.1_Missense_Mutation_p.P167S|HDAC4_uc010fzb.1_RNA	p.P284S	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	8	1642	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	284			Interaction with MEF2A.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.850C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180386	0.38511	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.57107	0.42;1.57	4.66	4.66	0.58398	.	0.053328	0.85682	D	0.000000	T	0.31918	0.0812	N	0.05259	-0.085	0.80722	D	1	B;B;B;B;B;B	0.33528	0.06;0.048;0.416;0.1;0.028;0.065	B;B;B;B;B;B	0.31337	0.014;0.034;0.128;0.038;0.015;0.015	T	0.16719	-1.0393	9	.	.	.	.	17.9561	0.89069	0.0:0.0:1.0:0.0	.	279;167;253;253;252;284	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	S	284;167;253;167	ENSP00000264606:P284S;ENSP00000443057:P253S	.	P	-	1	0	HDAC4	239731231	0.999000	0.42202	0.811000	0.32455	0.949000	0.60115	3.141000	0.50593	2.316000	0.78162	0.655000	0.94253	CCG		0.577	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		12	39	0	0	0	0.003163	0	12	39				
OR6B2	389090	broad.mit.edu	37	2	240969840	240969840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:240969840C>G	ENST00000402971.2	-	1	66	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G3R(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		ACATTCTCCCCACTCATGCCT	0.592																																							uc002vyr.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(7-9)GGG>CGG		olfactory receptor, family 6, subfamily B,							26.0	27.0	27.0					2																	240969840		2019	4191	6210	SO:0001583	missense	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969840C>G		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.7G>C	2.37:g.240969840C>G	ENSP00000384563:p.Gly3Arg					OR6B2_uc010zoc.1_Missense_Mutation_p.G3R	p.G3R	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	53	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	3			Extracellular (Potential).		B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	c.7G>C	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	N	0.023	-1.401419	0.01165	.	.	ENSG00000182083	ENST00000402971	T	0.00575	6.46	4.28	1.44	0.22558	.	0.876088	0.09471	N	0.797636	T	0.00356	0.0011	N	0.05383	-0.06	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.39482	-0.9612	10	0.16896	T	0.51	.	4.3144	0.10986	0.0:0.5992:0.1893:0.2115	.	3	Q6IFH4	OR6B2_HUMAN	R	3	ENSP00000384563:G3R	ENSP00000384563:G3R	G	-	1	0	OR6B2	240618513	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.314000	0.19432	0.169000	0.19679	-0.237000	0.12165	GGG		0.592	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		10	27	0	0	0	0.006214	0	10	27				
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:2840774G>T	ENST00000380445.3	+	3	289	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	VPS16_ENST00000380469.3_Missense_Mutation_p.G73C|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	73					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.G73C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCTGCTTCCGGCATGCCTCT	0.577																																							uc002whe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(217-219)GGC>TGC		vacuolar protein sorting 16 isoform 1							93.0	87.0	89.0					20																	2840774		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2840774G>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.217G>T	20.37:g.2840774G>T	ENSP00000369810:p.Gly73Cys					VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.G73C|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	p.G73C	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			3	265	+			73					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.217G>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273837	0.80580	.	.	ENSG00000215305	ENST00000380445;ENST00000380469	T;T	0.79247	-0.97;-1.25	5.97	5.97	0.96955	Vps16, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	D	0.91028	0.4862	10	0.52906	T	0.07	-28.0489	15.9281	0.79635	0.0:0.0:1.0:0.0	.	73;73	Q9H269-2;Q9H269	.;VPS16_HUMAN	C	73	ENSP00000369810:G73C;ENSP00000369836:G73C	ENSP00000369810:G73C	G	+	1	0	VPS16	2788774	1.000000	0.71417	0.528000	0.27938	0.974000	0.67602	5.045000	0.64220	2.837000	0.97791	0.655000	0.94253	GGC		0.577	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		14	27	1	0	9.16793e-09	0.00499	1.08926e-08	14	27				
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A	rs369276882		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547																																					Melanoma(158;1891 3343 50738)	Melanoma(158;1891 3343 50738)	uc002wld.2		NA																	3	Substitution - Missense(3)	p.R194H(1)	lung(2)|ovary(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(580-582)CGC>CTC		Ras association domain family 2							160.0	139.0	146.0					20																	4770300		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4770300C>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.581G>T	20.37:g.4770300C>A	ENSP00000368710:p.Arg194Leu					RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R194L|RASSF2_uc010gbh.2_5'Flank	p.R194L	NM_170774	NP_739580	P50749	RASF2_HUMAN			7	635	-			194			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.581G>T	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165634	0.94768	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16073	2.37;2.37	5.04	5.04	0.67666	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57522	-0.7797	10	0.62326	D	0.03	.	17.1313	0.86727	0.0:1.0:0.0:0.0	.	194	P50749	RASF2_HUMAN	L	194	ENSP00000368710:R194L;ENSP00000368684:R194L	ENSP00000368684:R194L	R	-	2	0	RASSF2	4718300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.622000	0.88805	0.655000	0.94253	CGC		0.547	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		12	60	1	0	6.31663e-08	0.003163	7.35918e-08	12	60				
PLCB1	23236	broad.mit.edu	37	20	8770893	8770894	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:8770893_8770894GG>TT	ENST00000338037.6	+	31	3435_3436	c.3408_3409GG>TT	c.(3406-3411)ctGGat>ctTTat	p.D1137Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D1137Y|PLCB1_ENST00000378641.3_Missense_Mutation_p.D1137Y	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1137					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGATCCTGGATGAAAAGCC	0.342																																							uc002wnb.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3406-3411)CTGGAT>CTTTAT		phosphoinositide-specific phospholipase C beta 1																																				SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8770893_8770894GG>TT	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	Exception_encountered	20.37:g.8770893_8770894delinsTT	ENSP00000338185:p.Asp1137Tyr					PLCB1_uc002wna.2_Missense_Mutation_p.D1137Y	p.D1137Y	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			31	3411_3412	+			1137					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	DNP	ENST00000338037.6	37	c.3408_3409GG>TT	CCDS13102.1																																																																																				0.342	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			29	106	0	0	0	0.004672	0	29	106				
BPIFB1	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:31873972C>T	ENST00000253354.1	+	2	254	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	31					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.L31L(2)									TTCTCATCCTCGGCCCAAAAG	0.567																																							uc002wyw.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)	4						c.(91-93)CTC>CTT		LPLUNC1 protein precursor							130.0	107.0	115.0					20																	31873972		2203	4300	6503	SO:0001819	synonymous_variant	92747					extracellular space	lipid binding	g.chr20:31873972C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.93C>T	20.37:g.31873972C>T						C20orf114_uc010gej.1_Silent_p.L31L	p.L31L	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			2	254	+			31					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	c.93C>T	CCDS13218.1																																																																																				0.567	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		8	44	0	0	0	0.00308	0	8	44				
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:33876672G>T	ENST00000374408.3	-	2	699	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	201								p.Y201*(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGAGCAGGTACACAGGGA	0.602																																							uc010zux.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(601-603)TAC>TAA		hypothetical protein LOC128876							102.0	87.0	92.0					20																	33876672		2203	4300	6503	SO:0001587	stop_gained	128876							g.chr20:33876672G>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.603C>A	20.37:g.33876672G>T	ENSP00000363529:p.Tyr201*					FAM83C_uc002xcb.1_Nonsense_Mutation_p.Y25*	p.Y201*	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	721	-			201					Q14D67|Q5JWN6|Q8N276	Nonsense_Mutation	SNP	ENST00000374408.3	37	c.603C>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084163	0.36758	.	.	ENSG00000125998	ENST00000374408	.	.	.	4.32	2.36	0.29203	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7501	8.9633	0.35860	0.2572:0.0:0.7428:0.0	.	.	.	.	X	201	.	ENSP00000363529:Y201X	Y	-	3	2	FAM83C	33340086	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	2.728000	0.47319	0.577000	0.29470	-0.229000	0.12294	TAC		0.602	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			15	62	1	0	2.4624e-09	0.008871	2.95816e-09	15	62				
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:35540928G>A	ENST00000262878.4	-	10	1289	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.H149Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	364					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H364Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGCGAGTGTGGAACATGTCA	0.328																																							uc002xgh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1090-1092)CAC>TAC		SAM domain- and HD domain-containing protein 1							111.0	106.0	108.0					20																	35540928		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35540928G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1090C>T	20.37:g.35540928G>A	ENSP00000262878:p.His364Tyr						p.H364Y	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			10	1220	-		Myeloproliferative disorder(115;0.00878)	364					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1090C>T	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	g	14.97	2.692866	0.48202	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.95069	-3.6;-3.6	5.57	4.62	0.57501	HD domain (1);	0.046141	0.85682	N	0.000000	D	0.92110	0.7499	M	0.75085	2.285	0.58432	D	0.999998	B	0.15141	0.012	B	0.11329	0.006	D	0.86187	0.1610	10	0.02654	T	1	-18.1568	13.8376	0.63419	0.0741:0.0:0.9259:0.0	.	364	Q9Y3Z3	SAMH1_HUMAN	Y	364;149	ENSP00000262878:H364Y;ENSP00000362798:H149Y	ENSP00000262878:H364Y	H	-	1	0	SAMHD1	34974342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.807000	0.55591	1.350000	0.45770	0.558000	0.71614	CAC		0.328	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		39	113	0	0	0	0.00361	0	39	113				
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:36993349G>T	ENST00000217407.2	+	8	1025	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	288					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.T288T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTTCAACACGGCCAGCCTGG	0.473																																							uc002xic.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(862-864)ACG>ACT		lipopolysaccharide-binding protein precursor							198.0	173.0	182.0					20																	36993349		2203	4300	6503	SO:0001819	synonymous_variant	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36993349G>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.864G>T	20.37:g.36993349G>T							p.T288T	NM_004139	NP_004130	P18428	LBP_HUMAN			8	899	+		Myeloproliferative disorder(115;0.00878)	288					B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	ENST00000217407.2	37	c.864G>T	CCDS13304.1																																																																																				0.473	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		41	227	1	0	1.02687e-29	0.003214	1.61429e-29	41	227				
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:36993396C>A	ENST00000217407.2	+	8	1072	c.911C>A	c.(910-912)aCa>aAa	p.T304K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	304					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.T304K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTCTCCATCACAGATGACATG	0.453																																							uc002xic.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(910-912)ACA>AAA		lipopolysaccharide-binding protein precursor							152.0	134.0	140.0					20																	36993396		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36993396C>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.911C>A	20.37:g.36993396C>A	ENSP00000217407:p.Thr304Lys						p.T304K	NM_004139	NP_004130	P18428	LBP_HUMAN			8	946	+		Myeloproliferative disorder(115;0.00878)	304					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.911C>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902965	0.33628	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.08896	3.04	5.55	4.59	0.56863	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.140037	0.49916	D	0.000135	T	0.20455	0.0492	M	0.77103	2.36	0.44719	D	0.997713	P	0.42908	0.793	P	0.49953	0.627	T	0.01583	-1.1319	10	0.32370	T	0.25	-2.6143	14.0067	0.64468	0.0:0.8475:0.1525:0.0	.	304	P18428	LBP_HUMAN	K	304	ENSP00000217407:T304K	ENSP00000217407:T304K	T	+	2	0	LBP	36426810	0.996000	0.38824	0.989000	0.46669	0.269000	0.26545	3.035000	0.49759	1.545000	0.49373	0.655000	0.94253	ACA		0.453	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		27	199	1	0	2.81731e-10	0.002096	3.44197e-10	27	199				
CHD6	84181	broad.mit.edu	37	20	40081428	40081428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:40081428T>A	ENST00000373233.3	-	21	3452	c.3275A>T	c.(3274-3276)tAc>tTc	p.Y1092F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1092					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.Y1092F(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGCTCGGAGGTAGCGCCTGGC	0.517																																							uc002xka.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(3274-3276)TAC>TTC		chromodomain helicase DNA binding protein 6							139.0	122.0	128.0					20																	40081428		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40081428T>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3275A>T	20.37:g.40081428T>A	ENSP00000362330:p.Tyr1092Phe						p.Y1092F	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			21	3453	-		Myeloproliferative disorder(115;0.00425)	1092					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.3275A>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651752	0.88056	.	.	ENSG00000124177	ENST00000373233	D	0.86769	-2.17	5.27	4.14	0.48551	.	0.126379	0.36409	N	0.002609	D	0.90116	0.6912	L	0.49350	1.555	0.80722	D	1	P	0.51351	0.944	D	0.62955	0.909	D	0.90047	0.4146	10	0.72032	D	0.01	-13.7951	12.3261	0.55011	0.0:0.0:0.1416:0.8584	.	1092	Q8TD26	CHD6_HUMAN	F	1092	ENSP00000362330:Y1092F	ENSP00000362330:Y1092F	Y	-	2	0	CHD6	39514842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	0.912000	0.36772	0.482000	0.46254	TAC		0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			5	170	0	0	0	0.001168	0	5	170				
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:44505620C>T	ENST00000255152.2	+	2	632	c.423C>T	c.(421-423)gcC>gcT	p.A141A	ZSWIM3_ENST00000454862.2_Silent_p.A135A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	141							zinc ion binding (GO:0008270)	p.A141A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTGACACTGCCGAGAAGTCCC	0.517																																							uc002xqd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(421-423)GCC>GCT		zinc finger, SWIM domain containing 3							77.0	70.0	73.0					20																	44505620		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44505620C>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.423C>T	20.37:g.44505620C>T						ZSWIM3_uc010zxg.1_Silent_p.A135A	p.A141A	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	626	+		Myeloproliferative disorder(115;0.0122)	141					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.423C>T	CCDS13381.1																																																																																				0.517	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		6	78	0	0	0	0.001168	0	6	78				
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:44637627C>T	ENST00000372330.3	+	1	81	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	21					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P21L(2)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TTTGCTGCCCCCAGACAGCGC	0.617																																							uc002xqz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(61-63)CCC>CTC		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						48.0	42.0	44.0					20																	44637627		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44637627C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.62C>T	20.37:g.44637627C>T	ENSP00000361405:p.Pro21Leu						p.P21L	NM_004994	NP_004985	P14780	MMP9_HUMAN			1	81	+		Myeloproliferative disorder(115;0.0122)	21					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.62C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678250	0.47886	.	.	ENSG00000100985	ENST00000372330	T	0.19938	2.11	4.55	4.55	0.56014	.	1.210460	0.05679	N	0.589968	T	0.53818	0.1820	M	0.83223	2.63	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.19976	-1.0289	10	0.35671	T	0.21	.	14.981	0.71311	0.0:1.0:0.0:0.0	.	21	P14780	MMP9_HUMAN	L	21	ENSP00000361405:P21L	ENSP00000361405:P21L	P	+	2	0	MMP9	44071034	0.922000	0.31269	0.690000	0.30148	0.061000	0.15899	3.883000	0.56168	2.515000	0.84797	0.462000	0.41574	CCC		0.617	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			6	14	0	0	0	0.001168	0	6	14				
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:52591957C>G	ENST00000395961.3	-	8	1319	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000371435.2_Missense_Mutation_p.D385H|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.D385H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGACTGAGTCCTCTTTAACT	0.403																																							uc002xws.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1153-1155)GAC>CAC		breast carcinoma amplified sequence 1							86.0	80.0	82.0					20																	52591957		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52591957C>G	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1153G>C	20.37:g.52591957C>G	ENSP00000379290:p.Asp385His					BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.D333H|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Missense_Mutation_p.D385H	p.D385H	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		8	1491	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		385					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1153G>C	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.626709|3.626709	0.66901|0.66901	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448710;ENST00000395961;ENST00000371435|ENST00000422805	T;T|.	0.08896|.	3.04;3.04|.	5.97|5.97	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.64994|0.64994	0.2649|0.2649	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;P;D|.	0.69078|.	0.986;0.951;0.997|.	P;P;D|.	0.63192|.	0.824;0.698;0.912|.	T|T	0.63883|0.63883	-0.6536|-0.6536	9|5	0.72032|.	D|.	0.01|.	.|.	12.3222|12.3222	0.54991|0.54991	0.1689:0.8311:0.0:0.0|0.1689:0.8311:0.0:0.0	.|.	385;385;385|.	B2RCQ5;G3XAF7;O75363|.	.;.;BCAS1_HUMAN|.	H|S	263;385;385|103	ENSP00000379290:D385H;ENSP00000360490:D385H|.	ENSP00000360490:D385H|.	D|R	-|-	1|3	0|2	BCAS1|BCAS1	52025364|52025364	0.989000|0.989000	0.36119|0.36119	0.983000|0.983000	0.44433|0.44433	0.997000|0.997000	0.91878|0.91878	1.364000|1.364000	0.34171|0.34171	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	GAC|AGG		0.403	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		14	118	0	0	0	0.006122	0	14	118				
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:52612502C>A	ENST00000395961.3	-	5	977	c.811G>T	c.(811-813)Gca>Tca	p.A271S	BCAS1_ENST00000371440.3_Missense_Mutation_p.A271S|BCAS1_ENST00000371435.2_Missense_Mutation_p.A271S|BCAS1_ENST00000434986.2_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A271S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCGTCCTTTGCAGTCTCCAGT	0.473																																							uc002xws.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(811-813)GCA>TCA		breast carcinoma amplified sequence 1							129.0	113.0	119.0					20																	52612502		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52612502C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.811G>T	20.37:g.52612502C>A	ENSP00000379290:p.Ala271Ser					BCAS1_uc010zza.1_5'UTR|BCAS1_uc010zzb.1_Missense_Mutation_p.A174S|BCAS1_uc010gim.2_Missense_Mutation_p.A174S|BCAS1_uc002xwt.2_Missense_Mutation_p.A271S|BCAS1_uc010gil.1_Missense_Mutation_p.A271S	p.A271S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		5	1149	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		271					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.811G>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691875	0.30052	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.76	0.245	0.15512	.	0.557017	0.18061	N	0.152922	T	0.10551	0.0258	L	0.59436	1.845	0.09310	N	1	B;B;D;D;D	0.54207	0.041;0.041;0.965;0.957;0.957	B;B;P;P;P	0.51415	0.016;0.029;0.625;0.669;0.669	T	0.16541	-1.0399	10	0.36615	T	0.2	-1.7025	0.6832	0.00878	0.2785:0.3502:0.1356:0.2358	.	271;271;271;271;271	B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;BCAS1_HUMAN	S	133;271;149;271;271	ENSP00000396361:A133S;ENSP00000360495:A271S;ENSP00000379290:A271S;ENSP00000360490:A271S	ENSP00000360490:A271S	A	-	1	0	BCAS1	52045909	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.155000	0.16362	-0.172000	0.10779	0.655000	0.94253	GCA		0.473	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		73	207	1	0	1.62783e-20	0.00361	2.34407e-20	73	207				
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57829002C>G	ENST00000371030.2	+	5	4238	c.4238C>G	c.(4237-4239)aCt>aGt	p.T1413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T1413S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCACAGCACTGCTGCCACA	0.498																																							uc002yan.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(13)|ovary(1)	14						c.(4237-4239)ACT>AGT		zinc finger protein 831							76.0	80.0	79.0					20																	57829002		2016	4194	6210	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829002C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4238C>G	20.37:g.57829002C>G	ENSP00000360069:p.Thr1413Ser						p.T1413S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4238	+	all_lung(29;0.0085)		1413					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4238C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182241	0.38511	.	.	ENSG00000124203	ENST00000371030	T	0.05199	3.48	5.52	-2.35	0.06684	.	0.844699	0.10437	N	0.674739	T	0.05318	0.0141	L	0.56769	1.78	0.09310	N	1	B	0.26744	0.158	B	0.20184	0.028	T	0.40232	-0.9574	10	0.35671	T	0.21	5.1708	0.6276	0.00789	0.3236:0.3049:0.1186:0.2528	.	1413	Q5JPB2	ZN831_HUMAN	S	1413	ENSP00000360069:T1413S	ENSP00000360069:T1413S	T	+	2	0	ZNF831	57262397	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	0.173000	0.16724	-0.771000	0.04608	0.650000	0.86243	ACT		0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		29	218	0	0	0	0.003271	0	29	218				
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	A	rs142051051		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57876663C>A	ENST00000337938.2	+	2	637	c.251C>A	c.(250-252)gCg>gAg	p.A84E	EDN3_ENST00000311585.7_Missense_Mutation_p.A84E|EDN3_ENST00000371025.3_Missense_Mutation_p.A84E|EDN3_ENST00000395654.3_Missense_Mutation_p.A84E|EDN3_ENST00000371028.2_Missense_Mutation_p.A84E	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	84					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15517	0.0		0.0	False		,,,				2504	0.0						uc002yap.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(250-252)GCG>GAG		endothelin 3 isoform 1 preproprotein		C	GLU/ALA,GLU/ALA,GLU/ALA,GLU/ALA	2,4404	4.2+/-10.8	0,2,2201	67.0	67.0	67.0		251,251,251,251	-9.6	0.0	20	dbSNP_134	67	0,8596		0,0,4298	no	missense,missense,missense,missense	EDN3	NM_000114.2,NM_207032.1,NM_207033.1,NM_207034.1	107,107,107,107	0,2,6499	AA,AC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign	84/239,84/220,84/225,84/239	57876663	2,13000	2203	4298	6501	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57876663C>A	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.251C>A	20.37:g.57876663C>A	ENSP00000337128:p.Ala84Glu					EDN3_uc002yao.1_Missense_Mutation_p.A84E|EDN3_uc002yaq.2_Missense_Mutation_p.A84E|EDN3_uc002yar.2_Missense_Mutation_p.A84E|EDN3_uc002yas.2_Missense_Mutation_p.A84E	p.A84E	NM_000114	NP_000105	P14138	EDN3_HUMAN			2	620	+	all_lung(29;0.0115)		84					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.251C>A	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	5.768	0.326098	0.10900	4.54E-4	0.0	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.8	-9.59	0.00556	.	5.397720	0.00977	N	0.003325	T	0.72661	0.3488	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.11329	0.006;0.003;0.003;0.002	T	0.64024	-0.6504	10	0.10636	T	0.68	-4.3155	1.688	0.02845	0.2978:0.34:0.1841:0.1781	.	84;84;84;84	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	E	84	ENSP00000337128:A84E;ENSP00000311854:A84E;ENSP00000360067:A84E;ENSP00000360064:A84E;ENSP00000379015:A84E	ENSP00000311854:A84E	A	+	2	0	EDN3	57310058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.245000	0.02899	-2.172000	0.00774	-4.272000	0.00008	GCG		0.662	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		7	19	1	0	8.12818e-05	0.001984	8.93935e-05	7	19				
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:58348406C>T	ENST00000371015.1	+	6	1291	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PHACTR3_ENST00000395636.2_Missense_Mutation_p.P234L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P234L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P234L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P272L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	275						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.P275L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCTCCACACCCACGGGGTCT	0.662																																							uc002yau.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(823-825)CCC>CTC		phosphatase and actin regulator 3 isoform 1							82.0	75.0	77.0					20																	58348406		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348406C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.824C>T	20.37:g.58348406C>T	ENSP00000360054:p.Pro275Leu					PHACTR3_uc002yat.2_Missense_Mutation_p.P272L|PHACTR3_uc010zzw.1_Missense_Mutation_p.P234L|PHACTR3_uc002yav.2_Missense_Mutation_p.P234L|PHACTR3_uc002yaw.2_Missense_Mutation_p.P234L|PHACTR3_uc002yax.2_Missense_Mutation_p.P164L	p.P275L	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1291	+	all_lung(29;0.00344)		275					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.824C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412701	0.83340	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.57;1.56;1.48;1.62;1.62;1.62;1.48	5.13	5.13	0.70059	.	0.052789	0.85682	D	0.000000	T	0.51770	0.1694	M	0.67953	2.075	0.80722	D	1	D;P;P	0.62365	0.991;0.949;0.949	P;P;P	0.61800	0.894;0.778;0.778	T	0.51052	-0.8754	10	0.46703	T	0.11	-21.5781	17.5855	0.87980	0.0:1.0:0.0:0.0	.	164;275;272	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	L	272;275;164;234;234;234;164	ENSP00000353002:P272L;ENSP00000360054:P275L;ENSP00000379001:P164L;ENSP00000442483:P234L;ENSP00000347866:P234L;ENSP00000378998:P234L;ENSP00000354555:P164L	ENSP00000347866:P234L	P	+	2	0	PHACTR3	57781801	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.293000	0.78740	2.389000	0.81357	0.655000	0.94253	CCC		0.662	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		4	45	0	0	0	0.004482	0	4	45				
SLC17A9	63910	broad.mit.edu	37	20	61588903	61588903	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:61588903T>C	ENST00000370351.4	+	3	499	c.368T>C	c.(367-369)tTc>tCc	p.F123S	SLC17A9_ENST00000370349.3_Missense_Mutation_p.F117S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	123					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.F123S(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCATGACCTTCTCACGCATC	0.647																																							uc002yea.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(367-369)TTC>TCC		vesicular nucleotide transporter SLC17A9							51.0	55.0	53.0					20																	61588903		2113	4232	6345	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61588903T>C	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.368T>C	20.37:g.61588903T>C	ENSP00000359376:p.Phe123Ser					SLC17A9_uc002ydz.3_Missense_Mutation_p.F117S|SLC17A9_uc011aap.1_Missense_Mutation_p.F143S	p.F123S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			3	552	+			123			Helical; (Potential).		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.368T>C	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	T	2.176	-0.388818	0.04932	.	.	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.58797	0.31;0.31;0.31	4.57	0.976	0.19727	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.469748	0.24377	N	0.039048	T	0.42787	0.1218	L	0.43152	1.355	0.27782	N	0.943113	B;B;B	0.15141	0.012;0.006;0.005	B;B;B	0.18263	0.021;0.014;0.008	T	0.25641	-1.0126	10	0.34782	T	0.22	.	5.4766	0.16700	0.0:0.2244:0.2682:0.5075	.	143;123;117	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	S	123;117;143	ENSP00000359376:F123S;ENSP00000359374:F117S;ENSP00000388215:F143S	ENSP00000359374:F117S	F	+	2	0	SLC17A9	61059348	0.491000	0.26019	0.622000	0.29159	0.042000	0.13812	0.862000	0.27899	-0.096000	0.12329	-0.375000	0.07067	TTC		0.647	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		3	30	0	0	0	0.004672	0	3	30				
KRTAP26-1	388818	broad.mit.edu	37	21	31691975	31691975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:31691975G>T	ENST00000360542.3	-	1	632	c.379C>A	c.(379-381)Ccg>Acg	p.P127T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	127						intermediate filament (GO:0005882)		p.P127T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGAGCAGCGGCCTCAGTGGA	0.537																																							uc002ynw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)CCG>ACG		keratin associated protein 26-1							122.0	124.0	123.0					21																	31691975		2203	4300	6503	SO:0001583	missense	388818					intermediate filament		g.chr21:31691975G>T	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.379C>A	21.37:g.31691975G>T	ENSP00000353742:p.Pro127Thr						p.P127T	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	633	-			127					B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	c.379C>A	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	G	1.817	-0.473214	0.04445	.	.	ENSG00000197683	ENST00000360542	T	0.03124	4.04	3.95	-2.58	0.06228	.	2.732160	0.02232	N	0.064956	T	0.02888	0.0086	N	0.22421	0.69	0.09310	N	1	B	0.15719	0.014	B	0.16722	0.016	T	0.44236	-0.9341	10	0.52906	T	0.07	-4.7147	0.9187	0.01310	0.4118:0.1613:0.2622:0.1647	.	127	Q6PEX3	KR261_HUMAN	T	127	ENSP00000353742:P127T	ENSP00000353742:P127T	P	-	1	0	KRTAP26-1	30613846	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.200000	0.09478	-0.469000	0.06911	-0.740000	0.03531	CCG		0.537	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		15	351	1	0	8.60227e-14	0.004007	1.12475e-13	15	351				
KRTAP13-1	140258	broad.mit.edu	37	21	31768708	31768708	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:31768708T>G	ENST00000355459.2	+	1	317	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	102						intermediate filament (GO:0005882)		p.F102V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCTAGGCTTTGGATCCAG	0.597																																							uc002yoa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)TTT>GTT		keratin associated protein 13-1							56.0	57.0	57.0					21																	31768708		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768708T>G	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.304T>G	21.37:g.31768708T>G	ENSP00000347635:p.Phe102Val						p.F102V	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	317	+			102					Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.304T>G	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767962	0.49680	.	.	ENSG00000198390	ENST00000355459	T	0.06687	3.27	4.41	3.23	0.37069	.	0.159342	0.28815	N	0.014059	T	0.14013	0.0339	M	0.86268	2.805	0.09310	N	1	B	0.14805	0.011	B	0.26416	0.069	T	0.14924	-1.0455	10	0.30078	T	0.28	.	8.8988	0.35481	0.167:0.0:0.0:0.8329	.	102	Q8IUC0	KR131_HUMAN	V	102	ENSP00000347635:F102V	ENSP00000347635:F102V	F	+	1	0	KRTAP13-1	30690579	0.003000	0.15002	0.001000	0.08648	0.422000	0.31414	1.273000	0.33121	0.975000	0.38392	0.455000	0.32223	TTT		0.597	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			5	67	0	0	0	0.001984	0	5	67				
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	C	A	rs142846225	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:37833580C>A	ENST00000399137.1	-	3	1280	c.414G>T	c.(412-414)tgG>tgT	p.W138C	AP000695.4_ENST00000428667.1_RNA|AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.W138C|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399135.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399136.1_Missense_Mutation_p.W138C	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	138					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.W138C(2)		endometrium(1)|lung(5)|skin(1)	7						CGTTGGTGGTCCAGGAGACGG	0.637																																							uc002yvk.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(412-414)TGG>TGT		claudin 14							71.0	72.0	72.0					21																	37833580		2203	4300	6503	SO:0001583	missense	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833580C>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.414G>T	21.37:g.37833580C>A	ENSP00000382090:p.Trp138Cys					CLDN14_uc002yvn.1_Missense_Mutation_p.W138C|CLDN14_uc002yvo.1_Missense_Mutation_p.W138C|CLDN14_uc002yvl.1_Missense_Mutation_p.W138C|CLDN14_uc002yvm.1_Missense_Mutation_p.W138C	p.W138C	NM_012130	NP_036262	O95500	CLD14_HUMAN			2	556	-			138			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000399137.1	37	c.414G>T	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323280	0.81580	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97695	1.0181	10	0.87932	D	0	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	138	O95500	CLD14_HUMAN	C	138	ENSP00000382092:W138C;ENSP00000382090:W138C;ENSP00000382087:W138C;ENSP00000382088:W138C;ENSP00000339292:W138C	ENSP00000339292:W138C	W	-	3	0	CLDN14	36755450	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.705000	0.84606	2.526000	0.85167	0.462000	0.41574	TGG		0.637	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		10	37	1	0	1.61879e-10	0.001368	1.98219e-10	10	37				
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:39775598T>G	ENST00000417133.2	-	6	628	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	ERG_ENST00000398910.1_Missense_Mutation_p.Q148P|ERG_ENST00000398907.1_Missense_Mutation_p.Q141P|ERG_ENST00000398919.2_Missense_Mutation_p.Q148P|ERG_ENST00000442448.1_Missense_Mutation_p.Q148P|ERG_ENST00000288319.7_Missense_Mutation_p.Q141P|ERG_ENST00000453032.2_Missense_Mutation_p.Q49P|ERG_ENST00000398905.1_Missense_Mutation_p.Q141P|ERG_ENST00000398911.1_Missense_Mutation_p.Q148P|ERG_ENST00000398897.1_Missense_Mutation_p.Q49P|ERG_ENST00000429727.2_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.Q148P(2)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTCCAGCCACTGCCGCACATG	0.507			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NA		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	2	Substitution - Missense(2)		lung(2)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(442-444)CAG>CCG		ets-related isoform 4							85.0	76.0	79.0					21																	39775598		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39775598T>G		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.443A>C	21.37:g.39775598T>G	ENSP00000414150:p.Gln148Pro					ERG_uc002yxa.2_Missense_Mutation_p.Q141P|ERG_uc011aek.1_Missense_Mutation_p.Q49P|ERG_uc010gnv.2_Missense_Mutation_p.Q49P|ERG_uc010gnx.2_Missense_Mutation_p.Q148P|ERG_uc011ael.1_Missense_Mutation_p.Q148P|ERG_uc002yxb.2_Missense_Mutation_p.Q148P|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Missense_Mutation_p.Q148P|ERG_uc010gny.1_RNA	p.Q148P	NM_001136155	NP_001129627	P11308	ERG_HUMAN			6	738	-		Prostate(19;3.6e-06)	148			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.443A>C	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582498	0.86748	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	4.79	4.79	0.61399	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.996;0.999;0.998	D;D;D;D;D	0.87578	0.995;0.997;0.998;0.995;0.989	T	0.73691	-0.3903	10	0.87932	D	0	.	14.6578	0.68847	0.0:0.0:0.0:1.0	.	148;141;148;148;141	P11308;B5MDW0;P11308-6;P11308-1;P11308-4	ERG_HUMAN;.;.;.;.	P	141;141;141;49;148;148;148;148;49;148	ENSP00000381877:Q141P;ENSP00000381879:Q141P;ENSP00000288319:Q141P;ENSP00000381871:Q49P;ENSP00000381882:Q148P;ENSP00000414150:Q148P;ENSP00000381881:Q148P;ENSP00000394694:Q148P;ENSP00000396268:Q49P;ENSP00000381891:Q148P	ENSP00000288319:Q141P	Q	-	2	0	ERG	38697468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.960000	0.87893	1.913000	0.55393	0.533000	0.62120	CAG		0.507	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		57	183	0	0	0	0.00361	0	57	183				
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41137527G>T	ENST00000380588.4	+	3	269	c.166G>T	c.(166-168)Gct>Tct	p.A56S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	56	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A56S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGGCTCCCAGGCTCGCTTCAA	0.527																																							uc002yyo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(166-168)GCT>TCT		immunoglobulin superfamily 5 like							69.0	62.0	64.0					21																	41137527		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41137527G>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.166G>T	21.37:g.41137527G>T	ENSP00000369962:p.Ala56Ser						p.A56S	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			3	269	+		Prostate(19;5.35e-06)	56			Ig-like V-type 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380588.4	37	c.166G>T	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524771	0.64747	.	.	ENSG00000183067	ENST00000380588	T	0.32988	1.43	4.05	4.05	0.47172	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197500	0.42682	D	0.000675	T	0.55497	0.1924	M	0.75264	2.295	0.48901	D	0.999724	D	0.76494	0.999	D	0.83275	0.996	T	0.62440	-0.6854	10	0.87932	D	0	-23.845	15.2938	0.73888	0.0:0.0:1.0:0.0	.	56	Q9NSI5	IGSF5_HUMAN	S	56	ENSP00000369962:A56S	ENSP00000369962:A56S	A	+	1	0	IGSF5	40059397	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	5.426000	0.66476	2.208000	0.71279	0.650000	0.86243	GCT		0.527	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			65	138	1	0	1.25089e-41	0.00361	2.10758e-41	65	138				
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	C	T	rs373921750		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41725556C>T	ENST00000400454.1	-	5	1247	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	257	Ig-like C2-type 3.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R257H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCAGCCAGCGGTAATCTGG	0.602																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(769-771)CGC>CAC		Down syndrome cell adhesion molecule isoform		C	HIS/ARG	1,3851		0,1,1925	43.0	43.0	43.0		770	4.4	1.0	21		43	1,8257		0,1,4128	no	missense	DSCAM	NM_001389.3	29	0,2,6053	TT,TC,CC		0.0121,0.026,0.0165	probably-damaging	257/2013	41725556	2,12108	1926	4129	6055	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41725556C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.770G>A	21.37:g.41725556C>T	ENSP00000383303:p.Arg257His					DSCAM_uc002yyr.1_RNA	p.R257H	NM_001389	NP_001380	O60469	DSCAM_HUMAN			5	1222	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	257			Extracellular (Potential).|Ig-like C2-type 3.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.770G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818929	0.90873	2.6E-4	1.21E-4	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67698	-0.28;-0.28	5.31	4.4	0.53042	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056037	0.64402	D	0.000001	T	0.62829	0.2460	L	0.42245	1.32	0.54753	D	0.999988	P	0.44478	0.836	B	0.43867	0.434	T	0.68131	-0.5490	10	0.62326	D	0.03	.	14.849	0.70281	0.0:0.9267:0.0:0.0733	.	257	O60469	DSCAM_HUMAN	H	257;9	ENSP00000383303:R257H;ENSP00000385342:R9H	ENSP00000383303:R257H	R	-	2	0	DSCAM	40647426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.618000	0.67722	2.629000	0.89072	0.650000	0.86243	CGC		0.602	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		4	67	0	0	0	0.001984	0	4	67				
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:42771258C>T	ENST00000330714.3	+	10	1592	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	470					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q470*(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTAATACCCAAAAAGGTAA	0.443																																							uc002yzf.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1408-1410)CAA>TAA		myxovirus resistance protein 2							65.0	69.0	68.0					21																	42771258		2203	4300	6503	SO:0001587	stop_gained	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42771258C>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1408C>T	21.37:g.42771258C>T	ENSP00000333657:p.Gln470*					MX2_uc002yzg.1_Nonsense_Mutation_p.Q193*|MX2_uc010gop.1_Intron	p.Q470*	NM_002463	NP_002454	P20592	MX2_HUMAN			10	1512	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	470					B7Z5D3|D3DSI7	Nonsense_Mutation	SNP	ENST00000330714.3	37	c.1408C>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032242	0.93575	.	.	ENSG00000183486	ENST00000330714	.	.	.	4.09	-0.486	0.12064	.	1.119980	0.06853	N	0.797673	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.1792	13.447	0.61146	0.0:0.3389:0.6611:0.0	.	.	.	.	X	470	.	ENSP00000333657:Q470X	Q	+	1	0	MX2	41693128	0.000000	0.05858	0.012000	0.15200	0.046000	0.14306	-1.240000	0.02914	0.086000	0.17137	0.591000	0.81541	CAA		0.443	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		10	109	0	0	0	0.001855	0	10	109				
ZBTB21	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43412161G>T	ENST00000310826.5	-	3	2227	c.2044C>A	c.(2044-2046)Ctc>Atc	p.L682I	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L682I|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L682I	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	682					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.L682I(2)									AATTGAGAGAGAAAGCGGTAC	0.433																																							uc002zab.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2044-2046)CTC>ATC		zinc finger protein 295 isoform L							102.0	113.0	109.0					21																	43412161		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43412161G>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2044C>A	21.37:g.43412161G>T	ENSP00000308759:p.Leu682Ile					ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.L682I|ZNF295_uc002zaa.3_Missense_Mutation_p.L682I	p.L682I	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2258	-			682			C2H2-type 3.		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2044C>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177171	0.57692	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.52754	0.65;0.65;0.65	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.248378	0.34338	N	0.004050	T	0.54647	0.1871	N	0.20881	0.62	0.45056	D	0.998079	D	0.71674	0.998	D	0.69307	0.963	T	0.48222	-0.9054	10	0.22109	T	0.4	-20.9728	19.2587	0.93959	0.0:0.0:1.0:0.0	.	682	Q9ULJ3	ZN295_HUMAN	I	682	ENSP00000308759:L682I;ENSP00000381512:L682I;ENSP00000381523:L682I	ENSP00000308759:L682I	L	-	1	0	ZNF295	42285230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.222000	0.95196	2.560000	0.86352	0.591000	0.81541	CTC		0.433	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		8	101	1	0	0.00448238	0.004482	0.00470454	8	101				
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	G	T	rs150059583		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43524089G>T	ENST00000408910.2	+	9	1411	c.1411G>T	c.(1411-1413)Gtg>Ttg	p.V471L	UMODL1_ENST00000408989.2_Missense_Mutation_p.V471L|C21orf128_ENST00000329015.2_Missense_Mutation_p.H48Q|UMODL1_ENST00000400427.1_Missense_Mutation_p.V399L|UMODL1_ENST00000400424.2_Missense_Mutation_p.V399L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	471	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.H48Q(4)|p.V399L(2)|p.V471L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGCTCACCGTGCAGGACCC	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	8	Substitution - Missense(8)		lung(8)	ovary(2)|skin(1)	3						c.(1411-1413)GTG>TTG		uromodulin-like 1 isoform 1 precursor							157.0	146.0	150.0					21																	43524089		2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524089G>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1411G>T	21.37:g.43524089G>T	ENSP00000386147:p.Val471Leu					UMODL1_uc002zad.1_Missense_Mutation_p.V399L|UMODL1_uc002zae.1_Missense_Mutation_p.V399L|UMODL1_uc002zag.1_Missense_Mutation_p.V471L|UMODL1_uc010gow.1_Missense_Mutation_p.V263L|UMODL1_uc002zai.1_Missense_Mutation_p.V122L|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.V122L|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V216L|C21orf128_uc002zak.2_Missense_Mutation_p.H48Q	p.V471L	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			9	1411	+			471			Extracellular (Potential).|SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1411G>T	CCDS42936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.765|3.765	-0.048809|-0.048809	0.07407|0.07407	.|.	.|.	ENSG00000184385|ENSG00000177398	ENST00000329015|ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T|T;T;T;T	0.52983|0.35605	0.64|1.3;1.3;1.3;1.3	3.49|3.49	0.538|0.538	0.17150|0.17150	.|SEA (1);	.|0.361935	.|0.19322	.|N	.|0.117102	T|T	0.24774|0.24774	0.0601|0.0601	N|N	0.17872|0.17872	0.535|0.535	0.09310|0.09310	N|N	1|1	P|B;P;B	0.51147|0.37176	0.942|0.079;0.586;0.011	B|B;P;B	0.44133|0.46452	0.442|0.05;0.517;0.079	T|T	0.16571|0.16571	-1.0398|-1.0398	9|10	0.87932|0.21014	D|T	0|0.42	-8.4905|-8.4905	4.3904|4.3904	0.11337|0.11337	0.2213:0.3941:0.3846:0.0|0.2213:0.3941:0.3846:0.0	.|.	48|399;471;471	Q8N2C9|Q5DID0-3;Q5DID0-2;Q5DID0	CU128_HUMAN|.;.;UROL1_HUMAN	Q|L	48|399;399;471;471	ENSP00000328495:H48Q|ENSP00000383279:V399L;ENSP00000383276:V399L;ENSP00000386126:V471L;ENSP00000386147:V471L	ENSP00000328495:H48Q|ENSP00000383276:V399L	H|V	-|+	3|1	2|0	C21orf128|UMODL1	42397158|42397158	0.007000|0.007000	0.16637|0.16637	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	0.356000|0.356000	0.20181|0.20181	0.092000|0.092000	0.17331|0.17331	0.655000|0.655000	0.94253|0.94253	CAC|GTG		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			17	71	1	0	7.21436e-19	0.008871	1.02251e-18	17	71				
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:46032564G>T	ENST00000334662.2	+	1	569	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632																																							uc002zfo.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(547-549)GCT>TCT		keratin associated protein 10-8							189.0	190.0	190.0					21																	46032564		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032564G>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.547G>T	21.37:g.46032564G>T	ENSP00000335565:p.Ala183Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A183S	NM_198695	NP_941968	P60410	KR108_HUMAN			1	569	+			183			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.547G>T	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.655679	0.00779	.	.	ENSG00000187766	ENST00000334662	T	0.00792	5.69	2.75	-1.32	0.09201	.	.	.	.	.	T	0.00552	0.0018	N	0.11000	0.08	0.09310	N	1	B	0.15473	0.013	B	0.15052	0.012	T	0.42716	-0.9435	9	0.15066	T	0.55	.	10.8118	0.46551	0.0:0.0:0.6604:0.3396	.	183	P60410	KR108_HUMAN	S	183	ENSP00000335565:A183S	ENSP00000335565:A183S	A	+	1	0	KRTAP10-8	44856992	0.880000	0.30214	0.001000	0.08648	0.008000	0.06430	-0.279000	0.08479	-0.429000	0.07329	-0.520000	0.04383	GCT		0.632	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		93	338	1	0	1.8585e-67	0.00361	3.44876e-67	93	338				
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:17071902C>G	ENST00000359963.3	-	1	1798	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	513					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.Q513H(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498																																							uc002zlp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1537-1539)CAG>CAC		T-complex protein 1							102.0	95.0	97.0					22																	17071902		2203	4297	6500	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071902C>G	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1539G>C	22.37:g.17071902C>G	ENSP00000353048:p.Gln513His						p.Q513H	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1799	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	513					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1539G>C	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.82	1.459287	0.26248	.	.	ENSG00000198445	ENST00000359963	T	0.79141	-1.24	1.98	0.923	0.19413	.	0.210963	0.23668	U	0.045744	T	0.67258	0.2874	L	0.54323	1.7	0.27640	N	0.947751	P	0.51240	0.943	B	0.42245	0.381	T	0.64076	-0.6492	10	0.87932	D	0	-11.0455	3.8629	0.09004	0.0:0.7691:0.0:0.2309	.	513	Q96SF2	TCPQM_HUMAN	H	513	ENSP00000353048:Q513H	ENSP00000353048:Q513H	Q	-	3	2	CCT8L2	15451902	0.241000	0.23857	0.655000	0.29622	0.394000	0.30568	-0.078000	0.11375	1.115000	0.41800	0.379000	0.24179	CAG		0.498	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			41	77	0	0	0	0.00361	0	41	77				
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:18301457C>A	ENST00000441493.2	-	26	4322	c.3970G>T	c.(3970-3972)Gtg>Ttg	p.V1324L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1324	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.V1324L(2)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AACTCCTCCACCAGGTCGCTC	0.662																																							uc002zng.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3970-3972)GTG>TTG		microtubule associated monoxygenase, calponin							49.0	56.0	53.0					22																	18301457		2037	4190	6227	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301457C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3970G>T	22.37:g.18301457C>A	ENSP00000416015:p.Val1324Leu					MICAL3_uc011agl.1_Missense_Mutation_p.V1240L	p.V1324L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4323	-		all_epithelial(15;0.198)	1324			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3970G>T	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.148015|3.148015	0.57151|0.57151	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.70045|.	-0.45|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	T|T	0.63117|0.63117	0.2484|0.2484	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.43431|.	0.807|.	B|.	0.27380|.	0.079|.	T|T	0.61850|0.61850	-0.6978|-0.6978	9|5	0.45353|.	T|.	0.12|.	.|.	11.2757|11.2757	0.49165|0.49165	0.0:0.9161:0.0:0.0839|0.0:0.9161:0.0:0.0839	.|.	1324|.	Q7RTP6|.	MICA3_HUMAN|.	L|C	1324|305	ENSP00000416015:V1324L|.	ENSP00000416015:V1324L|.	V|W	-|-	1|3	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681457|16681457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.217000|0.217000	0.24651|0.24651	5.587000|5.587000	0.67510|0.67510	2.188000|2.188000	0.69820|0.69820	0.462000|0.462000	0.41574|0.41574	GTG|TGG		0.662	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			3	9	1	0	0.00024832	0.009096	0.000270348	3	9				
SEZ6L	23544	broad.mit.edu	37	22	26761403	26761403	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:26761403C>A	ENST00000248933.6	+	13	2760	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	SEZ6L_ENST00000529632.2_Silent_p.R889R|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000404234.3_Silent_p.R889R|SEZ6L_ENST00000360929.3_Silent_p.R825R|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000411842.2_Silent_p.R86R|SEZ6L_ENST00000402979.1_Silent_p.R662R			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	889	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.R889R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTGTACAAGCGACTCTACCT	0.547																																							uc003acb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2665-2667)CGA>AGA		seizure related 6 homolog (mouse)-like							118.0	104.0	109.0					22																	26761403		2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26761403C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2665C>A	22.37:g.26761403C>A						SEZ6L_uc003acc.2_Silent_p.R889R|SEZ6L_uc011akc.1_Silent_p.R889R|SEZ6L_uc003acd.2_Silent_p.R825R|SEZ6L_uc011akd.1_Silent_p.R889R|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Silent_p.R662R|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA	p.R889R	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			13	2821	+			889			Sushi 5.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.2665C>A	CCDS13833.1																																																																																				0.547	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			65	112	1	0	4.81439e-37	0.00361	7.92614e-37	65	112				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(2)|p.S372S(1)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1119)TCCAAG>TCTGAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a																																				SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840_29091841TG>CA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E	p.K373E	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188_1189	-			373			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	DNP	ENST00000405598.1	37	c.1116_1117CA>TG	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	89	0	0	0	0.004672	0	6	89				
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:32550243G>T	ENST00000382097.3	-	2	367	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99								p.L99I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATATTTTCTAGAGGCCAAATC	0.378																																							uc003amd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(295-297)CTA>ATA		chromosome 22 open reading frame 42							43.0	49.0	47.0					22																	32550243		2200	4289	6489	SO:0001583	missense	150297							g.chr22:32550243G>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.295C>A	22.37:g.32550243G>T	ENSP00000371529:p.Leu99Ile						p.L99I	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			2	336	-			99					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.295C>A	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.004698	0.00431	.	.	ENSG00000205856	ENST00000382097	T	0.31510	1.49	0.578	-1.16	0.09678	.	.	.	.	.	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	P	0.37398	0.593	P	0.48114	0.567	T	0.35025	-0.9805	8	0.46703	T	0.11	.	.	.	.	.	99	Q6IC83	CV042_HUMAN	I	99	ENSP00000371529:L99I	ENSP00000371529:L99I	L	-	1	2	C22orf42	30880243	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.644000	0.00204	-3.707000	0.00118	-3.919000	0.00016	CTA		0.378	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		23	76	1	0	3.93418e-24	0.004289	5.90948e-24	23	76				
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:41657531C>A	ENST00000455915.2	-	5	2003	c.534G>T	c.(532-534)aaG>aaT	p.K178N	RANGAP1_ENST00000405486.1_Missense_Mutation_p.K178N|RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K178N			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.K178N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCAGAGGCTTGCCTTGGG	0.582																																							uc003azs.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(532-534)AAG>AAT		Ran GTPase activating protein 1							80.0	73.0	76.0					22																	41657531		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41657531C>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.534G>T	22.37:g.41657531C>A	ENSP00000401470:p.Lys178Asn					RANGAP1_uc003azt.2_Missense_Mutation_p.K178N|RANGAP1_uc003azu.2_Missense_Mutation_p.K178N|RANGAP1_uc011aoz.1_Intron	p.K178N	NM_002883	NP_002874	P46060	RAGP1_HUMAN			5	2004	-			178					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.534G>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035386	0.54896	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915	T;T;T	0.49720	0.77;0.77;0.77	5.6	4.59	0.56863	.	0.138558	0.64402	D	0.000003	T	0.47451	0.1446	M	0.69358	2.11	0.80722	D	1	P	0.36789	0.57	B	0.38156	0.266	T	0.48736	-0.9009	10	0.46703	T	0.11	-33.7074	11.3739	0.49715	0.0:0.8555:0.0:0.1445	.	178	P46060	RAGP1_HUMAN	N	178	ENSP00000385866:K178N;ENSP00000348577:K178N;ENSP00000401470:K178N	ENSP00000348577:K178N	K	-	3	2	RANGAP1	39987477	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	0.068000	0.14531	1.366000	0.46076	0.655000	0.94253	AAG		0.582	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		9	24	1	0	0.00244969	0.00245	0.00258619	9	24				
KIAA0930	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:45598869A>C	ENST00000336156.5	-	7	918		c.e7+1		KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000391627.2_Splice_Site|KIAA0930_ENST00000443310.3_Splice_Site|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000251993.7_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930									p.?(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCAGCCCTTACCCGCTCGTG	0.652																																							uc003bfx.1		NA																	2	Unknown(2)		lung(2)		0						c.e7+1		hypothetical protein LOC23313 isoform b							46.0	46.0	46.0					22																	45598869		2203	4300	6503	SO:0001630	splice_region_variant	23313						protein binding	g.chr22:45598869A>C	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.852+1T>G	22.37:g.45598869A>C						C22orf9_uc010gzw.1_Splice_Site_p.R136_splice|C22orf9_uc003bfv.1_Splice_Site_p.R293_splice|C22orf9_uc003bfw.1_Splice_Site_p.R289_splice|C22orf9_uc010gzx.2_Splice_Site_p.R266_splice|MIR1249_hsa-mir-1249|MI0006384_5'Flank	p.R284_splice	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	7	918	-		Ovarian(80;0.00965)|all_neural(38;0.0244)						B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Splice_Site	SNP	ENST00000336156.5	37	c.852_splice	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035345	0.75617	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.562	0.68148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0930	43977533	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.672000	0.91181	1.850000	0.53721	0.454000	0.30748	.		0.652	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880	Intron	12	12	0	0	0	0.001855	0	12	12				
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:45802673T>A	ENST00000357450.4	-	3	371	c.372A>T	c.(370-372)atA>atT	p.I124I	SMC1B_ENST00000404354.3_Silent_p.I124I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	124					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.I124I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATTATGCCTATCTTTTCCA	0.299																																							uc003bgc.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(370-372)ATA>ATT		SMC1 structural maintenance of chromosomes							82.0	78.0	79.0					22																	45802673		1819	4067	5886	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45802673T>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.372A>T	22.37:g.45802673T>A						SMC1B_uc003bgd.2_Silent_p.I124I|SMC1B_uc003bge.1_5'UTR	p.I124I	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	3	424	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	124					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.372A>T	CCDS43027.1																																																																																				0.299	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		28	90	0	0	0	0.007835	0	28	90				
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:50277734G>A	ENST00000216268.5	+	2	901	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E142K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGAAGGAGTTCAGCAG	0.507																																							uc003bix.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(424-426)GAG>AAG		zinc finger, BED-type containing 4							74.0	73.0	73.0					22																	50277734		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50277734G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.424G>A	22.37:g.50277734G>A	ENSP00000216268:p.Glu142Lys						p.E142K	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	894	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	142			BED-type 1.		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.424G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839180	0.71373	.	.	ENSG00000100426	ENST00000216268	T	0.48836	0.8	5.22	5.22	0.72569	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.58284	-0.7663	10	0.46703	T	0.11	-19.4882	18.9591	0.92671	0.0:0.0:1.0:0.0	.	142	O75132	ZBED4_HUMAN	K	142	ENSP00000216268:E142K	ENSP00000216268:E142K	E	+	1	0	ZBED4	48663738	1.000000	0.71417	0.989000	0.46669	0.046000	0.14306	7.029000	0.76477	2.714000	0.92807	0.585000	0.79938	GAG		0.507	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		31	69	0	0	0	0.003755	0	31	69				
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:51143400G>T	ENST00000414786.2	+	16	2090	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G	SHANK3_ENST00000262795.3_Silent_p.G651G|SHANK3_ENST00000445220.2_Silent_p.G636G			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	635	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632																																							uc003bne.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1951-1953)GGG>GGT		SH3 and multiple ankyrin repeat domains 3							115.0	130.0	125.0					22																	51143400		2184	4281	6465	SO:0001819	synonymous_variant	85358							g.chr22:51143400G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1863G>T	22.37:g.51143400G>T						SHANK3_uc003bnf.1_Silent_p.G106G	p.G651G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	17	1953	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	651					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.1953G>T																																																																																					0.632	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		6	26	1	0	0.00621372	0.006214	0.00647137	6	26				
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:1415642A>C	ENST00000446702.2	+	16	2607	c.1980A>C	c.(1978-1980)gcA>gcC	p.A660A	CNTN6_ENST00000539053.1_Silent_p.A588A|CNTN6_ENST00000350110.2_Silent_p.A660A			Q9UQ52	CNTN6_HUMAN	contactin 6	660	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A660A(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATACAATGCAACAGTGGTTG	0.388																																							uc003boz.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(1978-1980)GCA>GCC		contactin 6 precursor							112.0	107.0	109.0					3																	1415642		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415642A>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1980A>C	3.37:g.1415642A>C						CNTN6_uc011asj.1_Silent_p.A588A|CNTN6_uc003bpa.2_Silent_p.A660A	p.A660A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	16	2247	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	660			Fibronectin type-III 1.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.1980A>C	CCDS2557.1																																																																																				0.388	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		45	122	0	0	0	0.00361	0	45	122				
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:2908612C>A	ENST00000397461.1	+	7	1015	c.631C>A	c.(631-633)Cca>Aca	p.P211T	CNTN4_ENST00000418658.1_Missense_Mutation_p.P211T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P211T|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	211					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.P211T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCACCTACACCACTAATATT	0.383																																							uc003bpc.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(631-633)CCA>ACA		contactin 4 isoform a precursor							92.0	87.0	89.0					3																	2908612		1849	4096	5945	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2908612C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.631C>A	3.37:g.2908612C>A	ENSP00000380602:p.Pro211Thr					CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.P211T	p.P211T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	7	852	+		Ovarian(110;0.156)	211					B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.631C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963329	0.74016	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.57107	0.42;0.42;0.42	5.33	5.33	0.75918	Immunoglobulin subtype (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	L	0.27944	0.81	0.80722	D	1	P;P	0.50710	0.748;0.938	P;P	0.55391	0.577;0.775	T	0.51787	-0.8661	10	0.30854	T	0.27	.	19.0489	0.93034	0.0:1.0:0.0:0.0	.	211;211	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	T	211	ENSP00000396010:P211T;ENSP00000380602:P211T;ENSP00000413642:P211T	ENSP00000380602:P211T	P	+	1	0	CNTN4	2883612	0.998000	0.40836	0.646000	0.29493	0.832000	0.47134	4.759000	0.62227	2.489000	0.83994	0.655000	0.94253	CCA		0.383	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			21	67	1	0	4.26978e-12	0.00333	5.41239e-12	21	67				
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:10354321C>G	ENST00000350697.3	-	4	383	c.258G>C	c.(256-258)tgG>tgC	p.W86C	SEC13_ENST00000383801.2_Missense_Mutation_p.W132C|SEC13_ENST00000337354.4_Missense_Mutation_p.W89C|SEC13_ENST00000397117.1_Missense_Mutation_p.W72C|SEC13_ENST00000397109.3_Missense_Mutation_p.W72C	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	86					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.W86C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTTCCTCTCTCCAGATAATGA	0.582																																							uc003bvn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(256-258)TGG>TGC		SEC13 protein isoform 1							136.0	136.0	136.0					3																	10354321		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10354321C>G		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.258G>C	3.37:g.10354321C>G	ENSP00000312122:p.Trp86Cys					SEC13_uc003bvl.2_Missense_Mutation_p.W18C|SEC13_uc003bvm.2_Missense_Mutation_p.W72C|SEC13_uc003bvp.2_Missense_Mutation_p.W89C|SEC13_uc003bvo.2_Missense_Mutation_p.W132C|SEC13_uc003bvq.1_Missense_Mutation_p.W72C|SEC13_uc003bvr.1_Missense_Mutation_p.W72C|SEC13_uc011aul.1_Missense_Mutation_p.W86C	p.W86C	NM_183352	NP_899195	P55735	SEC13_HUMAN			4	377	-			86			WD 2.		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.258G>C	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394078	0.83011	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	H	0.94620	3.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95181	0.8299	10	0.87932	D	0	.	15.6633	0.77206	0.0:1.0:0.0:0.0	.	86;86;72;132;86	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	C	72;89;86;72;132;86	ENSP00000380298:W72C;ENSP00000336566:W89C;ENSP00000312122:W86C;ENSP00000380306:W72C;ENSP00000373312:W132C	ENSP00000336566:W89C	W	-	3	0	SEC13	10329321	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.700000	0.84556	2.276000	0.75962	0.561000	0.74099	TGG		0.582	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			27	74	0	0	0	0.005443	0	27	74				
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:25835674G>T	ENST00000280701.3	+	3	1168	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	OXSM_ENST00000420173.2_Missense_Mutation_p.A274S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453																																							uc003cdn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1069-1071)GCT>TCT		3-oxoacyl-ACP synthase, mitochondrial isoform 1							99.0	84.0	89.0					3																	25835674		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25835674G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1069G>T	3.37:g.25835674G>T	ENSP00000280701:p.Ala357Ser					OXSM_uc011awp.1_Missense_Mutation_p.A82S|OXSM_uc010hfh.2_Missense_Mutation_p.A274S	p.A357S	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			3	1176	+			357						Missense_Mutation	SNP	ENST00000280701.3	37	c.1069G>T	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459138	0.63401	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	5.52	4.62	0.57501	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.101773	0.64402	D	0.000002	T	0.58750	0.2144	N	0.19112	0.55	0.39105	D	0.961366	B;B	0.27997	0.126;0.197	P;B	0.46389	0.515;0.441	T	0.52975	-0.8503	9	0.12103	T	0.63	-20.6624	15.7279	0.77777	0.0:0.0:0.8629:0.1371	.	274;357	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	S	357;274	.	ENSP00000280701:A357S	A	+	1	0	OXSM	25810678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.694000	0.84235	2.590000	0.87494	0.655000	0.94253	GCT		0.453	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		33	96	1	0	4.14481e-20	0.00623	5.93686e-20	33	96				
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:36872739C>T	ENST00000429976.2	-	21	8450	c.8203G>A	c.(8203-8205)Ggc>Agc	p.G2735S	TRANK1_ENST00000301807.6_Missense_Mutation_p.G2185S|TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592																																							uc003cgj.2		NA																	9	Substitution - Missense(9)		lung(6)|kidney(3)	ovary(1)|central_nervous_system(1)	2						c.(6553-6555)GGC>AGC		lupus brain antigen 1							63.0	65.0	64.0					3																	36872739		2012	4168	6180	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872739C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8203G>A	3.37:g.36872739C>T	ENSP00000416168:p.Gly2735Ser						p.G2185S	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	6855	-			2735					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6553G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.508252	0.00984	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.27890	1.64;2.06;1.64	5.25	-2.72	0.05968	.	0.760679	0.12318	N	0.479586	T	0.10937	0.0267	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34625	-0.9821	10	0.02654	T	1	.	5.3267	0.15910	0.3262:0.1566:0.0:0.5172	.	2735	O15050	TRNK1_HUMAN	S	2185;2735;2185	ENSP00000416826:G2185S;ENSP00000416168:G2735S;ENSP00000301807:G2185S	ENSP00000301807:G2185S	G	-	1	0	TRANK1	36847743	0.001000	0.12720	0.000000	0.03702	0.370000	0.29829	-0.152000	0.10159	-0.827000	0.04278	-0.367000	0.07326	GGC		0.592	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		37	131	0	0	0	0.007835	0	37	131				
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:38316550G>T	ENST00000311856.4	+	4	757	c.708G>T	c.(706-708)ggG>ggT	p.G236G	SLC22A13_ENST00000450935.2_Missense_Mutation_p.A144S	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	236					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607																																							uc003chz.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(706-708)GGG>GGT		solute carrier family 22 (organic anion							130.0	125.0	127.0					3																	38316550		2203	4300	6503	SO:0001819	synonymous_variant	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38316550G>T	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.708G>T	3.37:g.38316550G>T						SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Silent_p.G236G	p.G236G	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	4	762	+			236			Helical; (Potential).		B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	37	c.708G>T	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	9.226	1.034660	0.19590	.	.	ENSG00000172940	ENST00000450935	T	0.51325	0.71	4.84	-1.91	0.07641	.	.	.	.	.	T	0.27278	0.0669	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.25293	-1.0136	6	0.20519	T	0.43	.	4.313	0.10979	0.4817:0.0:0.2379:0.2804	.	.	.	.	S	144	ENSP00000406929:A144S	ENSP00000395106:A170S	A	+	1	0	SLC22A13	38291554	0.000000	0.05858	0.032000	0.17829	0.073000	0.16967	-1.791000	0.01758	-0.288000	0.09051	0.655000	0.94253	GCA		0.607	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		46	126	1	0	9.57592e-29	0.00361	1.49667e-28	46	126				
SCN11A	11280	broad.mit.edu	37	3	38936055	38936055	+	Missense_Mutation	SNP	T	T	A	rs374516577		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:38936055T>A	ENST00000302328.3	-	15	3002	c.2804A>T	c.(2803-2805)cAg>cTg	p.Q935L	SCN11A_ENST00000456224.3_Missense_Mutation_p.Q935L|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q935L|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q935L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	935					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Q935L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGATGCGCTGTGCATTATC	0.488																																							uc011ays.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(2803-2805)CAG>CTG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						230.0	231.0	231.0					3																	38936055		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936055T>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2804A>T	3.37:g.38936055T>A	ENSP00000307599:p.Gln935Leu					SCN11A_uc010hhn.1_Missense_Mutation_p.Q51L	p.Q935L	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	3003	-			935					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2804A>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361650	0.24684	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.47	0.176	0.15049	Sodium ion transport-associated (1);	6.042170	0.00597	N	0.000374	T	0.79100	0.4389	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.51276	-0.8726	10	0.22109	T	0.4	.	6.0589	0.19826	0.315:0.0:0.2474:0.4376	.	935	Q9UI33	SCNBA_HUMAN	L	935	ENSP00000307599:Q935L;ENSP00000400945:Q935L;ENSP00000416757:Q935L;ENSP00000408028:Q935L	ENSP00000307599:Q935L	Q	-	2	0	SCN11A	38911059	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.018000	0.13422	-0.208000	0.10171	0.528000	0.53228	CAG		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		15	769	0	0	0	0.00499	0	15	769				
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:41860964G>T	ENST00000301831.4	-	19	2261	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	600					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A600D(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGGGAACAGCCCAGCACTC	0.438																																							uc003ckv.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1798-1800)GCT>GAT		unc-51-like kinase 4							106.0	106.0	106.0					3																	41860964		1889	4116	6005	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41860964G>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1799C>A	3.37:g.41860964G>T	ENSP00000301831:p.Ala600Asp					ULK4_uc003ckw.2_Missense_Mutation_p.A600D	p.A600D	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	19	2000	-			600					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1799C>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	7.026	0.559583	0.13436	.	.	ENSG00000168038	ENST00000301831	T	0.53206	0.63	5.16	2.95	0.34219	Armadillo-like helical (1);Armadillo-type fold (2);	1.079060	0.07151	U	0.849179	T	0.27419	0.0673	N	0.22421	0.69	0.44852	D	0.997865	B;B	0.19583	0.021;0.037	B;B	0.18263	0.014;0.021	T	0.39603	-0.9606	10	0.02654	T	1	.	3.9522	0.09374	0.2948:0.0:0.5259:0.1793	.	600;600	B4E2M4;Q96C45	.;ULK4_HUMAN	D	600	ENSP00000301831:A600D	ENSP00000301831:A600D	A	-	2	0	ULK4	41835968	0.904000	0.30761	0.945000	0.38365	0.994000	0.84299	2.086000	0.41643	1.304000	0.44892	0.650000	0.86243	GCT		0.438	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		29	338	1	0	3.90053e-15	0.002445	5.18789e-15	29	338				
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:44951851C>A	ENST00000296125.4	+	11	1665	c.1597C>A	c.(1597-1599)Caa>Aaa	p.Q533K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	533					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.Q533K(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCGCAGATCCAAGGTCAAGG	0.498																																							uc003coc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1597-1599)CAA>AAA		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						56.0	53.0	54.0					3																	44951851		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44951851C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1597C>A	3.37:g.44951851C>A	ENSP00000296125:p.Gln533Lys						p.Q533K	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	11	1670	+			533					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1597C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.702193	0.00719	.	.	ENSG00000163810	ENST00000296125	T	0.74106	-0.81	1.88	0.945	0.19543	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.370184	0.16047	U	0.232154	T	0.45776	0.1359	N	0.04508	-0.205	0.09310	N	1	B	0.24823	0.112	B	0.24006	0.05	T	0.32402	-0.9908	10	0.11794	T	0.64	.	7.6022	0.28083	0.0:0.4696:0.5303:0.0	.	533	P49221	TGM4_HUMAN	K	533	ENSP00000296125:Q533K	ENSP00000296125:Q533K	Q	+	1	0	TGM4	44926855	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.189000	0.09629	0.323000	0.23307	-0.302000	0.09304	CAA		0.498	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		42	75	1	0	1.12205e-10	0.00361	1.38019e-10	42	75				
FYCO1	79443	broad.mit.edu	37	3	46021226	46021226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:46021226C>A	ENST00000296137.2	-	4	464	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	FYCO1_ENST00000535325.1_Missense_Mutation_p.G87W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	87	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G87W(2)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AAGCGGATCCCATCATTGGCT	0.507																																							uc003cpb.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(259-261)GGG>TGG		FYVE and coiled-coil domain containing 1							192.0	166.0	175.0					3																	46021226		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46021226C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.259G>T	3.37:g.46021226C>A	ENSP00000296137:p.Gly87Trp					FYCO1_uc011bal.1_Missense_Mutation_p.G87W	p.G87W	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	4	465	-			87			RUN.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.259G>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686723	0.88639	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.29397	1.57;1.57	5.46	5.46	0.80206	RUN (2);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56318	-0.7999	10	0.87932	D	0	-55.0161	17.4939	0.87712	0.0:1.0:0.0:0.0	.	87;87	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	W	87	ENSP00000296137:G87W;ENSP00000441178:G87W	ENSP00000296137:G87W	G	-	1	0	FYCO1	45996230	1.000000	0.71417	0.983000	0.44433	0.937000	0.57800	7.488000	0.81441	2.571000	0.86741	0.484000	0.47621	GGG		0.507	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		45	132	1	0	9.52127e-25	0.00361	1.44424e-24	45	132				
TUSC2	11334	broad.mit.edu	37	3	50368057	50368057	+	5'Flank	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:50368057G>A	ENST00000232496.4	-	0	0				RASSF1_ENST00000395126.3_Silent_p.C175C|RASSF1_ENST00000357043.2_Silent_p.C330C|TUSC2_ENST00000462137.1_5'Flank|RASSF1_ENST00000359365.4_Silent_p.C326C|RASSF1_ENST00000327761.3_Silent_p.C256C	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)		p.C256C(2)|p.C330C(2)		lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCTTCTGGCGGCAATAGGAGT	0.612																																							uc003dad.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|skin(1)	2						c.(988-990)TGC>TGT		Ras association domain family 1 isoform D							109.0	104.0	105.0					3																	50368057		2203	4300	6503	SO:0001631	upstream_gene_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50368057G>A	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"""PDGFA associated protein 2"""	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368057G>A	Exception_encountered					TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Silent_p.C175C|RASSF1_uc003dab.1_Silent_p.C256C|RASSF1_uc003dac.2_Silent_p.C175C|RASSF1_uc003dae.1_Silent_p.C326C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Silent_p.C175C	p.C330C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	6	1121	-			330			SARAH.		B2R4Y9	Silent	SNP	ENST00000232496.4	37	c.990C>T	CCDS2819.1																																																																																				0.612	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346399.1	NM_007275		12	22	0	0	0	0.00499	0	12	22				
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:52818397C>T	ENST00000273283.2	+	11	1335	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	ITIH1_ENST00000542827.1_Silent_p.H437H|ITIH1_ENST00000540715.1_Silent_p.H295H|ITIH1_ENST00000537050.1_Silent_p.H149H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	437	Hyaluronan-binding.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H437H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTCGGCCACAATGTGGACT	0.577																																							uc003dfs.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1309-1311)CAC>CAT		inter-alpha (globulin) inhibitor H1							99.0	90.0	93.0					3																	52818397		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52818397C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1311C>T	3.37:g.52818397C>T						ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.H38H|ITIH1_uc010hmo.1_5'UTR	p.H437H	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	11	1335	+			437			Hyaluronan-binding.|VWFA.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.1311C>T	CCDS2864.1																																																																																				0.577	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		26	27	0	0	0	0.003954	0	26	27				
CACNA2D3	55799	broad.mit.edu	37	3	54872616	54872616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:54872616G>T	ENST00000474759.1	+	16	1540	c.1492G>T	c.(1492-1494)Gga>Tga	p.G498*	CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.G498*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.G498*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.G404*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	498	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CATTCTTCTGGGAGTGGTTGG	0.383																																							uc003dhf.2		NA																	0				large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1492-1494)GGA>TGA		calcium channel, voltage-dependent, alpha							163.0	152.0	155.0					3																	54872616		1861	4118	5979	SO:0001587	stop_gained	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54872616G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1492G>T	3.37:g.54872616G>T	ENSP00000419101:p.Gly498*					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.G404*|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.G232*	p.G498*	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	16	1540	+			498			Extracellular (Potential).|Cache.		B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	ENST00000474759.1	37	c.1492G>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	38	7.239768	0.98157	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	1.1809	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	X	498;498;498;404;404;397	.	ENSP00000288197:G498X	G	+	1	0	CACNA2D3	54847656	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	8.680000	0.91225	2.826000	0.97356	0.655000	0.94253	GGA		0.383	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			5	214	1	0	0.00116845	0.001168	0.00123961	5	214				
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	G	C	rs202182669		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:62636588G>C	ENST00000383710.4	-	5	1486	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	CADPS_ENST00000490353.2_Missense_Mutation_p.I379M|CADPS_ENST00000357948.3_Missense_Mutation_p.I379M|CADPS_ENST00000283269.9_Missense_Mutation_p.I379M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	379					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I379M(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCCCATGTCGATGATGGAAG	0.522																																							uc003dll.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(2)|ovary(1)	3						c.(1135-1137)ATC>ATG		Ca2+-dependent secretion activator isoform 1							128.0	113.0	118.0					3																	62636588		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62636588G>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1137C>G	3.37:g.62636588G>C	ENSP00000373215:p.Ile379Met					CADPS_uc003dlm.2_Missense_Mutation_p.I379M|CADPS_uc003dln.2_Missense_Mutation_p.I379M	p.I379M	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	5	1497	-		Lung SC(41;0.0452)	379					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1137C>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010711	0.35511	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.45276	0.91;0.9;0.91;0.9	6.03	0.58	0.17402	.	0.051292	0.85682	D	0.000000	T	0.19208	0.0461	N	0.08118	0	0.41274	D	0.986863	B;B;B	0.22604	0.01;0.032;0.072	B;B;B	0.19148	0.013;0.024;0.011	T	0.03829	-1.1000	10	0.44086	T	0.13	.	7.08	0.25225	0.7271:0.0:0.1331:0.1398	.	379;379;379	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	M	379	ENSP00000373215:I379M;ENSP00000350632:I379M;ENSP00000283269:I379M;ENSP00000418736:I379M	ENSP00000283269:I379M	I	-	3	3	CADPS	62611628	0.145000	0.22656	1.000000	0.80357	0.998000	0.95712	-0.306000	0.08178	0.162000	0.19483	0.655000	0.94253	ATC		0.522	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		38	157	0	0	0	0.00874	0	38	157				
CADPS	8618	broad.mit.edu	37	3	62751567	62751567	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:62751567G>T	ENST00000383710.4	-	2	883	c.534C>A	c.(532-534)aaC>aaA	p.N178K	CADPS_ENST00000490353.2_Missense_Mutation_p.N178K|CADPS_ENST00000357948.3_Missense_Mutation_p.N178K|CADPS_ENST00000283269.9_Missense_Mutation_p.N178K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	178					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.N178K(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTGCACAGCGTTCATGAAGG	0.517																																							uc003dll.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(2)|ovary(1)	3						c.(532-534)AAC>AAA		Ca2+-dependent secretion activator isoform 1							134.0	118.0	123.0					3																	62751567		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751567G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.534C>A	3.37:g.62751567G>T	ENSP00000373215:p.Asn178Lys					CADPS_uc003dlm.2_Missense_Mutation_p.N178K|CADPS_uc003dln.2_Missense_Mutation_p.N178K	p.N178K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	894	-		Lung SC(41;0.0452)	178					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.534C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280385	0.59758	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.83163	-1.64;-1.64;-1.64;-1.69	5.23	-10.4	0.00318	.	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	L	0.45422	1.42	0.42909	D	0.994255	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.97110	1.0;0.989;0.992	D	0.90299	0.4328	10	0.35671	T	0.21	.	17.8882	0.88863	0.3655:0.0:0.6345:0.0	.	178;178;178	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	K	178	ENSP00000373215:N178K;ENSP00000350632:N178K;ENSP00000283269:N178K;ENSP00000418736:N178K	ENSP00000283269:N178K	N	-	3	2	CADPS	62726607	0.039000	0.19947	0.278000	0.24718	0.989000	0.77384	-0.530000	0.06179	-2.089000	0.00860	-0.312000	0.09012	AAC		0.517	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		71	335	1	0	2.13026e-44	0.00361	3.66351e-44	71	335				
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:73432940C>G	ENST00000263666.4	-	10	2891	c.2777G>C	c.(2776-2778)cGc>cCc	p.R926P	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R648P|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R583P|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R643P|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R583P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGTCGCTGCGGATCTTCAC	0.667																																							uc003dpl.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2776-2778)CGC>CCC		PDZ domain containing ring finger 3							39.0	37.0	38.0					3																	73432940		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432940C>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2777G>C	3.37:g.73432940C>G	ENSP00000263666:p.Arg926Pro					PDZRN3_uc011bgh.1_Missense_Mutation_p.R583P|PDZRN3_uc010hoe.1_Missense_Mutation_p.R624P|PDZRN3_uc011bgf.1_Missense_Mutation_p.R643P|PDZRN3_uc011bgg.1_Missense_Mutation_p.R646P	p.R926P	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2873	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	926					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2777G>C	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.65|18.65	3.669513|3.669513	0.67814|0.67814	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.54479	.|0.57;0.57;0.57;0.57;0.57	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75481|0.75481	0.3855|0.3855	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.995;0.998	T|T	0.78902|0.78902	-0.2021|-0.2021	5|10	.|0.87932	.|D	.|0	.|.	18.7949|18.7949	0.91990|0.91990	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|648;643;643;926	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	P|P	242|926;648;583;583;643	.|ENSP00000263666:R926P;ENSP00000442026:R648P;ENSP00000418168:R583P;ENSP00000418484:R583P;ENSP00000418624:R643P	.|ENSP00000263666:R926P	A|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73515630|73515630	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.536000|0.536000	0.34869|0.34869	7.455000|7.455000	0.80726|0.80726	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		6	25	0	0	0	0.001168	0	6	25				
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	C	A	rs369749923		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:96706434C>A	ENST00000389672.5	+	3	749	c.711C>A	c.(709-711)aaC>aaA	p.N237K	EPHA6_ENST00000470610.2_Missense_Mutation_p.N237K|EPHA6_ENST00000542517.1_Missense_Mutation_p.N143K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	143						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.N143K(4)|p.N237K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGCCAAACCAGTATACAA	0.413																																							uc010how.1		NA																	6	Substitution - Missense(6)		lung(6)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(709-711)AAC>AAA		EPH receptor A6 isoform a							170.0	172.0	172.0					3																	96706434		1872	4128	6000	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706434C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.711C>A	3.37:g.96706434C>A	ENSP00000374323:p.Asn237Lys					EPHA6_uc003drp.1_Missense_Mutation_p.N237K	p.N237K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	754	+			142			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.711C>A	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.35|13.35	2.209927|2.209927	0.39003|0.39003	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.09817|.	2.94;2.94;2.94|.	5.74|5.74	2.96|2.96	0.34315|0.34315	.|.	0.444536|.	0.21249|.	U|.	0.077669|.	T|T	0.56124|0.56124	0.1964|0.1964	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	B;B|.	0.25235|.	0.121;0.027|.	B;B|.	0.24394|.	0.053;0.023|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.72032|.	D|.	0.01|.	.|.	10.8733|10.8733	0.46896|0.46896	0.0:0.8008:0.0:0.1992|0.0:0.8008:0.0:0.1992	.|.	237;237|.	B3KS12;E7EU71|.	.;.|.	K|T	237;237;143|182	ENSP00000420598:N237K;ENSP00000374323:N237K;ENSP00000439758:N143K|.	ENSP00000374323:N237K|.	N|P	+|+	3|1	2|0	EPHA6|EPHA6	98189124|98189124	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.701000|0.701000	0.25616|0.25616	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		176	542	1	0	2.07866e-96	0.00361	3.98748e-96	176	542				
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:98110266C>A	ENST00000383695.1	+	1	757	c.757C>A	c.(757-759)Ctt>Att	p.L253I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L253I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGATTCCCTTCTCTTCAT	0.353																																							uc011bgw.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(757-759)CTT>ATT		olfactory receptor, family 5, subfamily K,							158.0	153.0	154.0					3																	98110266		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98110266C>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.757C>A	3.37:g.98110266C>A	ENSP00000373194:p.Leu253Ile						p.L253I	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	757	+			253			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.757C>A	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	4.859	0.159694	0.09287	.	.	ENSG00000206536	ENST00000383695	T	0.00069	8.77	5.15	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.600409	0.13823	N	0.360242	T	0.00144	0.0004	L	0.35341	1.055	0.09310	N	1	B	0.26577	0.153	B	0.33121	0.158	T	0.20706	-1.0267	10	0.19147	T	0.46	-50.8867	7.2837	0.26326	0.2346:0.6086:0.1568:0.0	.	253	A6NET4	OR5K3_HUMAN	I	253	ENSP00000373194:L253I	ENSP00000373194:L253I	L	+	1	0	OR5K3	99592956	0.000000	0.05858	0.997000	0.53966	0.117000	0.20001	-0.920000	0.04013	2.527000	0.85204	0.603000	0.83216	CTT		0.353	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			142	515	1	0	1.14095e-56	0.00361	2.0401e-56	142	515				
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:98188534C>G	ENST00000332650.5	+	1	211	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433																																							uc003dsm.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(112-114)ACC>ACG		olfactory receptor, family 5, subfamily K,							166.0	165.0	166.0					3																	98188534		2203	4297	6500	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188534C>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.114C>G	3.37:g.98188534C>G							p.T38T	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	114	+			38			Helical; Name=1; (Potential).		B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.114C>G	CCDS43115.1																																																																																				0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			113	569	0	0	0	0.00361	0	113	569				
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:108278693C>A	ENST00000295746.8	-	16	2000	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D483Y|KIAA1524_ENST00000487834.1_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	642					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D642Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAAAGATCTTGTAGCCTG	0.353																																							uc003dxb.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1924-1926)GAT>TAT		p90 autoantigen							68.0	67.0	67.0					3																	108278693		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108278693C>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1924G>T	3.37:g.108278693C>A	ENSP00000295746:p.Asp642Tyr						p.D642Y	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			16	2193	-			642			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.1924G>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858850	0.91433	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.44083	0.93;0.93	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66019	-0.6027	10	0.87932	D	0	-19.7155	20.5568	0.99304	0.0:1.0:0.0:0.0	.	642	Q8TCG1	CIP2A_HUMAN	Y	483;642	ENSP00000419487:D483Y;ENSP00000295746:D642Y	ENSP00000295746:D642Y	D	-	1	0	KIAA1524	109761383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.125000	0.77193	2.861000	0.98227	0.655000	0.94253	GAT		0.353	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		16	91	1	0	6.94344e-10	0.006122	8.41629e-10	16	91				
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:113375768G>T	ENST00000478658.1	-	5	4778	c.4761C>A	c.(4759-4761)aaC>aaA	p.N1587K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.N1587K			Q68DE3	K2018_HUMAN	KIAA2018	1587	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1587K(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTTATGATGGTTCCGACTAG	0.478																																							uc003eam.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(4759-4761)AAC>AAA		hypothetical protein LOC205717							148.0	135.0	139.0					3																	113375768		2002	4179	6181	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375768G>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4761C>A	3.37:g.113375768G>T	ENSP00000420721:p.Asn1587Lys					KIAA2018_uc003eal.2_Missense_Mutation_p.N1531K	p.N1587K	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	5172	-			1587			Gln-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.4761C>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	0.170	-1.072378	0.01918	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.29397	1.57;1.57	5.32	1.49	0.22878	.	0.519373	0.21555	N	0.072679	T	0.14960	0.0361	N	0.14661	0.345	0.27211	N	0.959908	B	0.17038	0.02	B	0.16722	0.016	T	0.19582	-1.0301	10	0.27082	T	0.32	0.0555	6.3539	0.21390	0.2753:0.1226:0.6021:0.0	.	1587	Q68DE3	K2018_HUMAN	K	1587	ENSP00000320794:N1587K;ENSP00000420721:N1587K	ENSP00000320794:N1587K	N	-	3	2	KIAA2018	114858458	0.998000	0.40836	0.271000	0.24616	0.528000	0.34623	1.741000	0.38238	0.088000	0.17205	0.655000	0.94253	AAC		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		24	92	1	0	1.37878e-21	0.00333	2.02321e-21	24	92				
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:115805319C>A	ENST00000490035.2	-	2	739	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCCGTGGGTCCAGAGACCACT	0.502																																							uc003ebt.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(238-240)CTG>CTT		limbic system-associated membrane protein							123.0	110.0	114.0					3																	115805319		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805319C>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.240G>T	3.37:g.115805319C>A						LSAMP_uc011bis.1_Silent_p.L80L	p.L80L	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	740	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	80			Ig-like C2-type 1.		Q8IV49	Silent	SNP	ENST00000490035.2	37	c.240G>T	CCDS2982.1																																																																																				0.502	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		41	186	1	0	6.87076e-12	0.00361	8.68902e-12	41	186				
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:120417341T>A	ENST00000273375.3	-	5	492	c.463A>T	c.(463-465)Aca>Tca	p.T155S	RABL3_ENST00000483733.1_Missense_Mutation_p.T155S|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.T155S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGGCGCTTTGTTTCATGAATC	0.358																																							uc003edx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(463-465)ACA>TCA		RAB, member of RAS oncogene family-like 3							204.0	217.0	212.0					3																	120417341		2203	4296	6499	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120417341T>A	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.463A>T	3.37:g.120417341T>A	ENSP00000273375:p.Thr155Ser						p.T155S	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	5	493	-			155			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.463A>T	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	T	8.863	0.947348	0.18356	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.73575	-0.76;-0.76	5.73	4.6	0.57074	.	0.371761	0.32836	N	0.005599	T	0.35941	0.0949	N	0.00621	-1.32	0.33800	D	0.626531	B	0.15141	0.012	B	0.18871	0.023	T	0.49123	-0.8972	10	0.06365	T	0.9	0.0086	6.7339	0.23399	0.0:0.1961:0.0:0.8039	.	155	Q5HYI8	RABL3_HUMAN	S	155	ENSP00000273375:T155S;ENSP00000419986:T155S	ENSP00000273375:T155S	T	-	1	0	RABL3	121900031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.554000	0.45845	2.180000	0.69256	0.528000	0.53228	ACA		0.358	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		158	511	0	0	0	0.00361	0	158	511				
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:121209249C>A	ENST00000264233.5	-	16	2657	c.2529G>T	c.(2527-2529)cgG>cgT	p.R843R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	843					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.R978R(2)		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)		CCACTGCCTTCCGGGCACTAC	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2527-2529)CGG>CGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							99.0	92.0	95.0					3																	121209249		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:121209249C>A	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.2529G>T	3.37:g.121209249C>A						POLQ_uc003eed.2_Silent_p.R15R	p.R843R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2658	-			843					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.2529G>T	CCDS33833.1																																																																																				0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		65	261	1	0	2.73218e-42	0.00361	4.63227e-42	65	261				
FBXO40	51725	broad.mit.edu	37	3	121342078	121342078	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:121342078T>G	ENST00000338040.4	+	3	2216	c.1802T>G	c.(1801-1803)gTg>gGg	p.V601G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	601	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGGTGTCTGTGCTGATGAGG	0.493																																							uc003eeg.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1801-1803)GTG>GGG		F-box protein 40							73.0	68.0	70.0					3																	121342078		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121342078T>G	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1802T>G	3.37:g.121342078T>G	ENSP00000337510:p.Val601Gly						p.V601G	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	2012	+			601			F-box.		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1802T>G	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.405554	0.25378	.	.	ENSG00000163833	ENST00000338040	T	0.54071	0.59	6.16	4.98	0.66077	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.395833	0.29266	N	0.012644	T	0.42698	0.1214	L	0.44542	1.39	0.42046	D	0.991097	P	0.39480	0.675	B	0.39258	0.295	T	0.38714	-0.9648	10	0.48119	T	0.1	-2.7765	6.3837	0.21550	0.0:0.0783:0.1606:0.761	.	601	Q9UH90	FBX40_HUMAN	G	601	ENSP00000337510:V601G	ENSP00000337510:V601G	V	+	2	0	FBXO40	122824768	0.998000	0.40836	0.844000	0.33320	0.948000	0.59901	1.518000	0.35877	1.117000	0.41842	0.528000	0.53228	GTG		0.493	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		5	242	0	0	0	0.001984	0	5	242				
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:123046503T>A	ENST00000462833.1	-	7	3121	c.1909A>T	c.(1909-1911)Atc>Ttc	p.I637F	ADCY5_ENST00000309879.5_Missense_Mutation_p.I287F|ADCY5_ENST00000491190.1_Missense_Mutation_p.I270F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCTCGATACTGTGCTCC	0.622																																							uc003egh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1909-1911)ATC>TTC		adenylate cyclase 5							83.0	66.0	72.0					3																	123046503		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123046503T>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1909A>T	3.37:g.123046503T>A	ENSP00000419361:p.Ile637Phe					ADCY5_uc003egg.1_Missense_Mutation_p.I270F|ADCY5_uc003egi.1_Missense_Mutation_p.I196F	p.I637F	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	7	1909	-			637			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1909A>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172678	0.94807	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.64402	D	0.000001	D	0.94889	0.8348	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.979;0.996	D	0.96451	0.9334	10	0.87932	D	0	.	15.6491	0.77076	0.0:0.0:0.0:1.0	.	637;270	O95622;B3KWA8	ADCY5_HUMAN;.	F	637;270;287;196	ENSP00000419361:I637F;ENSP00000418537:I270F;ENSP00000308685:I287F;ENSP00000420082:I196F	ENSP00000308685:I287F	I	-	1	0	ADCY5	124529193	1.000000	0.71417	0.669000	0.29828	0.919000	0.55068	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	ATC		0.622	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		13	41	0	0	0	0.001855	0	13	41				
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:125850370C>A	ENST00000393434.2	-	13	1829	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D393Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D504Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D494Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.D494Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCATGAGATCTGCCAACCTG	0.647																																							uc003eim.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1480-1482)GAT>TAT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						54.0	49.0	51.0					3																	125850370		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125850370C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1480G>T	3.37:g.125850370C>A	ENSP00000377083:p.Asp494Tyr					ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.D393Y|ALDH1L1_uc003eio.2_Missense_Mutation_p.D196Y	p.D494Y	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	13	1670	-			494			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1480G>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115833	0.56505	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.08	4.08	0.47627	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.057035	0.64402	D	0.000003	D	0.91161	0.7216	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.93693	0.7009	10	0.87932	D	0	.	14.1329	0.65266	0.0:1.0:0.0:0.0	.	393;494	E9PBX3;O75891	.;AL1L1_HUMAN	Y	504;494;393;494	ENSP00000273450:D504Y;ENSP00000420293:D494Y;ENSP00000395881:D393Y;ENSP00000377083:D494Y	ENSP00000273450:D504Y	D	-	1	0	ALDH1L1	127333060	1.000000	0.71417	0.922000	0.36590	0.300000	0.27592	6.989000	0.76219	2.257000	0.74773	0.467000	0.42956	GAT		0.647	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		17	51	1	0	1.00905e-13	0.008871	1.31298e-13	17	51				
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	C	G	rs575496620		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:125872401C>G	ENST00000393434.2	-	7	1093	c.744G>C	c.(742-744)acG>acC	p.T248T	ALDH1L1_ENST00000393431.2_Silent_p.T248T|ALDH1L1_ENST00000452905.2_Silent_p.T147T|ALDH1L1_ENST00000273450.3_Silent_p.T258T|ALDH1L1_ENST00000472186.1_Silent_p.T248T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000455064.2_Silent_p.T73T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.T248T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGTGTTCAGCGTTGAGTTGA	0.562																																							uc003eim.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(742-744)ACG>ACC		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						91.0	92.0	92.0					3																	125872401		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125872401C>G	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.744G>C	3.37:g.125872401C>G						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.T147T|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Silent_p.T274T|ALDH1L1_uc003eip.1_Silent_p.T155T|ALDH1L1_uc011bkj.1_Silent_p.T73T	p.T248T	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	7	934	-			248					B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.744G>C	CCDS3034.1																																																																																				0.562	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		13	70	0	0	0	0.003163	0	13	70				
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:126255153G>C	ENST00000319340.2	+	2	187	c.137G>C	c.(136-138)gGg>gCg	p.G46A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	46					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.G46A(2)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGGCTTGGTGGGGAGAAGAGA	0.607																																							uc003eja.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(136-138)GGG>GCG		carbohydrate sulfotransferase 13							109.0	111.0	110.0					3																	126255153		2203	4300	6503	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126255153G>C	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.137G>C	3.37:g.126255153G>C	ENSP00000317404:p.Gly46Ala						p.G46A	NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	2	137	+			46			Lumenal (Potential).		Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.137G>C	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	6.677	0.493462	0.12702	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.66638	-0.22	3.18	1.38	0.22167	.	2.498130	0.02537	U	0.094191	T	0.65626	0.2709	L	0.57536	1.79	0.09310	N	1	P	0.52463	0.953	P	0.45195	0.473	T	0.50625	-0.8806	10	0.41790	T	0.15	-18.3511	5.3111	0.15831	0.27:0.0:0.73:0.0	.	46	Q8NET6	CHSTD_HUMAN	A	46	ENSP00000317404:G46A	ENSP00000317404:G46A	G	+	2	0	CHST13	127737843	0.562000	0.26586	0.002000	0.10522	0.056000	0.15407	2.418000	0.44662	0.364000	0.24374	0.467000	0.42956	GGG		0.607	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		7	29	0	0	0	0.001855	0	7	29				
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:127842427C>A	ENST00000322623.5	-	1	240	c.141G>T	c.(139-141)gaG>gaT	p.E47D	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Splice_Site_p.E47D	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	47					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.E47D(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGGCCACACCTCTCGCGCGT	0.706																																							uc003ekh.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(139-141)GAG>GAT		RuvB-like 1							41.0	43.0	42.0					3																	127842427		2203	4300	6503	SO:0001630	splice_region_variant	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127842427C>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.141+1G>T	3.37:g.127842427C>A						RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.E47D	p.E47D	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	1	245	-			47					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.141G>T	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583567	0.96578	.	.	ENSG00000175792	ENST00000322623;ENST00000417360	T;T	0.68765	-0.35;0.09	4.91	4.91	0.64330	TIP49, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.92923	3.36	0.80722	D	1	P;D	0.65815	0.939;0.995	P;D	0.68039	0.714;0.955	D	0.89562	0.3807	9	.	.	.	-12.7793	18.103	0.89512	0.0:1.0:0.0:0.0	.	47;47	Q9Y265-2;Q9Y265	.;RUVB1_HUMAN	D	47	ENSP00000318297:E47D;ENSP00000393755:E47D	.	E	-	3	2	RUVBL1	129325117	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.386000	0.79775	2.267000	0.75376	0.305000	0.20034	GAG		0.706	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2		Missense_Mutation	12	26	1	0	0.000978159	0.000978	0.00104699	12	26				
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:129279567C>G	ENST00000324093.4	-	30	5172		c.e30-1		PLXND1_ENST00000393239.1_Splice_Site	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.?(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGTCTTTCACTGTGAGAGGA	0.483																																					Ovarian(97;366 1484 3738 22084 39045)	Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	2	Unknown(2)		lung(2)	large_intestine(1)	1						c.e30-1		plexin D1 precursor							55.0	59.0	58.0					3																	129279567		2203	4300	6503	SO:0001630	splice_region_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129279567C>G	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4994-1G>C	3.37:g.129279567C>G						PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Splice_Site_p.V333_splice	p.V1665_splice	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			30	5094	-								A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Splice_Site	SNP	ENST00000324093.4	37	c.4994_splice	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932455	0.34096	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000506979	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4163	0.87500	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXND1	130762257	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.220000	0.78008	2.167000	0.68274	0.455000	0.32223	.		0.483	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Intron	6	15	0	0	0	0.00308	0	6	15				
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:137483858C>A	ENST00000306087.1	+	1	280	c.232C>A	c.(232-234)Cga>Aga	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R78R(2)		large_intestine(2)|lung(12)	14						CTACAAGTACCGACCTCGGCG	0.612																																							uc003erm.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(232-234)CGA>AGA		SRY-box 14							132.0	142.0	139.0					3																	137483858		2203	4300	6503	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483858C>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.232C>A	3.37:g.137483858C>A							p.R78R	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	280	+			78					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.232C>A	CCDS3094.1																																																																																				0.612	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		11	88	1	0	6.53275e-17	0.00245	9.01069e-17	11	88				
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:142681802G>T	ENST00000340634.3	-	1	376	c.377C>A	c.(376-378)gCg>gAg	p.A126E	RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A126E(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACTCCCGACGCGTAGCACCA	0.652																																							uc003evg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(376-378)GCG>GAG		progestin and adipoQ receptor family member IX							60.0	62.0	62.0					3																	142681802		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681802G>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.377C>A	3.37:g.142681802G>T	ENSP00000341564:p.Ala126Glu					PAQR9_uc003evf.1_5'Flank	p.A126E	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	377	-			126			Helical; (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.377C>A	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460418	0.43736	.	.	ENSG00000188582	ENST00000340634	T	0.30981	1.51	4.62	3.73	0.42828	.	0.515513	0.19830	N	0.105106	T	0.45236	0.1332	L	0.48642	1.525	0.37767	D	0.926536	D	0.56746	0.977	D	0.63793	0.918	T	0.44952	-0.9294	10	0.40728	T	0.16	-30.7692	13.9728	0.64252	0.0:0.0:0.847:0.153	.	126	Q6ZVX9	PAQR9_HUMAN	E	126	ENSP00000341564:A126E	ENSP00000341564:A126E	A	-	2	0	PAQR9	144164492	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.819000	0.62664	1.050000	0.40346	0.462000	0.41574	GCG		0.652	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		7	22	1	0	7.48243e-07	0.006214	8.5877e-07	7	22				
IGSF10	285313	broad.mit.edu	37	3	151154859	151154859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151154859G>T	ENST00000282466.3	-	6	7489	c.7490C>A	c.(7489-7491)aCa>aAa	p.T2497K	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2497	Ig-like C2-type 11.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.T2497K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATAAGCTGTTGCTTCTTT	0.388																																							uc011bod.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(7489-7491)ACA>AAA		immunoglobulin superfamily, member 10 precursor							168.0	163.0	165.0					3																	151154859		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151154859G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7490C>A	3.37:g.151154859G>T	ENSP00000282466:p.Thr2497Lys					IGSF10_uc011bob.1_Missense_Mutation_p.T524K|IGSF10_uc011boc.1_Missense_Mutation_p.T476K	p.T2497K	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7490	-			2497			Ig-like C2-type 11.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.7490C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964051	0.74131	.	.	ENSG00000152580	ENST00000282466	T	0.65549	-0.16	5.3	4.43	0.53597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000147	T	0.72053	0.3413	L	0.53729	1.69	0.58432	D	0.999998	D;D	0.71674	0.998;0.995	D;P	0.79784	0.993;0.904	T	0.67998	-0.5525	10	0.17369	T	0.5	.	14.2215	0.65830	0.0721:0.0:0.9279:0.0	.	2497;524	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	K	2497	ENSP00000282466:T2497K	ENSP00000282466:T2497K	T	-	2	0	IGSF10	152637549	0.989000	0.36119	0.899000	0.35326	0.977000	0.68977	4.259000	0.58828	1.372000	0.46190	0.655000	0.94253	ACA		0.388	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		131	293	1	0	2.77863e-71	0.00361	5.2009e-71	131	293				
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151164627C>A	ENST00000282466.3	-	4	3141	c.3142G>T	c.(3142-3144)Gaa>Taa	p.E1048*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1048					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.E1048*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCTTTTTTCAGAAGAACCT	0.493																																							uc011bod.1		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3142-3144)GAA>TAA		immunoglobulin superfamily, member 10 precursor							98.0	101.0	100.0					3																	151164627		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164627C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3142G>T	3.37:g.151164627C>A	ENSP00000282466:p.Glu1048*						p.E1048*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3142	-			1048					Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.3142G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	38	6.713854	0.97784	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.46	3.65	0.41850	.	0.568577	0.15632	N	0.252320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.6494	0.17608	0.0:0.5704:0.1371:0.2925	.	.	.	.	X	1048	.	ENSP00000282466:E1048X	E	-	1	0	IGSF10	152647317	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.125000	0.15749	0.656000	0.30886	0.591000	0.81541	GAA		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		113	274	1	0	2.77834e-61	0.00361	5.07717e-61	113	274				
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151474962G>A	ENST00000356517.3	+	5	895	c.786G>A	c.(784-786)tgG>tgA	p.W262*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	262						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.W262*(2)|p.W240*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTTCCCTGGGCAATGAGAA	0.413																																							uc003ezc.2		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(784-786)TGG>TGA		arylacetamide deacetylase-like 2 precursor							140.0	146.0	144.0					3																	151474962		2203	4298	6501	SO:0001587	stop_gained	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151474962G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.786G>A	3.37:g.151474962G>A	ENSP00000348911:p.Trp262*					AADACL2_uc010hvn.2_Nonsense_Mutation_p.W49*	p.W262*	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	906	+			262					Q5HYJ4	Nonsense_Mutation	SNP	ENST00000356517.3	37	c.786G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	35	5.536495	0.96460	.	.	ENSG00000197953	ENST00000356517	.	.	.	4.9	2.95	0.34219	.	0.740651	0.13761	N	0.364617	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.7161	4.6131	0.12413	0.4174:0.0:0.5826:0.0	.	.	.	.	X	262	.	ENSP00000348911:W262X	W	+	3	0	AADACL2	152957652	0.120000	0.22244	0.029000	0.17559	0.765000	0.43378	0.195000	0.17155	1.294000	0.44707	0.591000	0.81541	TGG		0.413	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		117	295	0	0	0	0.00361	0	117	295				
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:159998598T>A	ENST00000326448.7	-	15	1953	c.1521A>T	c.(1519-1521)acA>acT	p.T507T	IFT80_ENST00000483465.1_Silent_p.T370T|IFT80_ENST00000496589.1_Silent_p.T370T|RP11-432B6.3_ENST00000483754.1_Silent_p.T678T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	507					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.T507T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATGCACCATTGTTCCTTAAT	0.313																																							uc011boy.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1519-1521)ACA>ACT		WD repeat domain 56							101.0	91.0	94.0					3																	159998598		2203	4300	6503	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:159998598T>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1521A>T	3.37:g.159998598T>A						IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.T370T|IFT80_uc003fdd.1_Silent_p.T190T|IFT80_uc003fde.1_Silent_p.T370T	p.T507T	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		15	1954	-			507			WD 7.		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.1521A>T	CCDS3188.1																																																																																				0.313	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		19	37	0	0	0	0.001882	0	19	37				
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:160120494A>T	ENST00000357388.3	+	4	800	c.349A>T	c.(349-351)Agt>Tgt	p.S117C	MIR15B_ENST00000385045.1_RNA|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000462787.1_Missense_Mutation_p.S117C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.S117C|SMC4_ENST00000469762.1_Missense_Mutation_p.S92C|SMC4_ENST00000360111.2_Missense_Mutation_p.S117C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	117					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.S117C(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCCAAATGGCAGTGGCAAATC	0.323																																							uc003fdh.2		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)	ovary(1)|breast(1)	2						c.(349-351)AGT>TGT		SMC4 structural maintenance of chromosomes							105.0	111.0	109.0					3																	160120494		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160120494A>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.349A>T	3.37:g.160120494A>T	ENSP00000349961:p.Ser117Cys					IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.S117C|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.S92C|SMC4_uc003fdj.2_Missense_Mutation_p.S117C|SMC4_uc010hwd.2_Missense_Mutation_p.S117C|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	p.S117C	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		4	462	+			117			ATP (Potential).		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.349A>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934855	0.92458	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.37	5.37	0.77165	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.91054	0.7185	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92801	0.6256	10	0.87932	D	0	-18.0484	15.3722	0.74573	1.0:0.0:0.0:0.0	.	117;92;117	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	C	117;117;117;117;117;117;92;117;117;117;45;117	ENSP00000418820:S117C;ENSP00000349961:S117C;ENSP00000419247:S117C;ENSP00000420644:S117C;ENSP00000353225:S117C;ENSP00000417964:S92C;ENSP00000420121:S117C;ENSP00000420734:S117C;ENSP00000420817:S117C;ENSP00000417612:S45C;ENSP00000341382:S117C	ENSP00000341382:S117C	S	+	1	0	SMC4	161603188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.224000	0.95209	2.030000	0.59900	0.397000	0.26171	AGT		0.323	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			30	32	0	0	0	0.005524	0	30	32				
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:182681763T>C	ENST00000292782.4	-	3	448	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S84G	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	99	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.S99G(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACACTAATGCTGGCTGGATCG	0.418																																							uc003fld.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(295-297)AGC>GGC		RP42 homolog							150.0	123.0	132.0					3																	182681763		2203	4300	6503	SO:0001583	missense	54165					ubiquitin ligase complex	protein binding	g.chr3:182681763T>C	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.295A>G	3.37:g.182681763T>C	ENSP00000292782:p.Ser99Gly					DCUN1D1_uc011bqn.1_Intron	p.S99G	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		3	344	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		99			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	c.295A>G	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399435	0.83120	.	.	ENSG00000043093	ENST00000292782;ENST00000469954;ENST00000497606;ENST00000460412;ENST00000487822	.	.	.	5.94	5.94	0.96194	Domain of unknown function DUF298 (1);	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.76938	2.355	0.80722	D	1	P	0.40332	0.713	B	0.36922	0.236	T	0.64330	-0.6433	9	0.42905	T	0.14	-17.6287	16.3945	0.83586	0.0:0.0:0.0:1.0	.	99	Q96GG9	DCNL1_HUMAN	G	99;84;84;84;84	.	ENSP00000292782:S99G	S	-	1	0	DCUN1D1	184164457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.265000	0.75225	0.482000	0.46254	AGC		0.418	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		19	148	0	0	0	0.00278	0	19	148				
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:183209920G>C	ENST00000341319.3	-	7	1696	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	554					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.A554G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTGCAGGGCGCGATACCGCA	0.657																																							uc003flr.2		NA																	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1660-1662)GCG>GGG		kelch-like 6							55.0	54.0	54.0					3																	183209920		2201	4299	6500	SO:0001583	missense	89857							g.chr3:183209920G>C	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1661C>G	3.37:g.183209920G>C	ENSP00000341342:p.Ala554Gly					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.A554G	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1719	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		554			Kelch 5.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1661C>G	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	35	5.464174	0.96257	.	.	ENSG00000172578	ENST00000341319	T	0.80653	-1.4	5.8	5.8	0.92144	Kelch-type beta propeller (1);	0.094483	0.64402	D	0.000001	D	0.84750	0.5541	M	0.71871	2.18	0.52501	D	0.999956	P	0.40302	0.712	P	0.44772	0.46	D	0.85824	0.1387	10	0.87932	D	0	.	20.029	0.97531	0.0:0.0:1.0:0.0	.	554	Q8WZ60	KLHL6_HUMAN	G	554	ENSP00000341342:A554G	ENSP00000341342:A554G	A	-	2	0	KLHL6	184692614	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	9.624000	0.98398	2.742000	0.94016	0.591000	0.81541	GCG		0.657	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		17	39	0	0	0	0.00333	0	17	39				
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:186505350G>T	ENST00000323963.5	+	9	1040	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	SNORD2_ENST00000459163.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V231F|SNORA4_ENST00000584302.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V327F|SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.V326F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTCAAGTCGTGTTCTGATCAC	0.398			T	BCL6	NHL																																		uc003fqs.2		NA		Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(976-978)GTT>TTT		eukaryotic translation initiation factor 4A2							152.0	145.0	147.0					3																	186505350		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186505350G>T	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.976G>T	3.37:g.186505350G>T	ENSP00000326381:p.Val326Phe					EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.V327F|EIF4A2_uc003fqv.2_Missense_Mutation_p.V231F|EIF4A2_uc003fqw.2_Missense_Mutation_p.V231F|EIF4A2_uc011bsb.1_Missense_Mutation_p.V199F|SNORA4_uc010hyx.1_5'Flank	p.V326F	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	9	1015	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		326			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.976G>T	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940005	0.92526	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.78364	-1.17;-1.17;-1.17	5.12	5.12	0.69794	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	M	0.77486	2.375	0.80722	D	1	D;D;P;P	0.89917	1.0;0.993;0.838;0.866	D;D;P;P	0.79784	0.993;0.953;0.693;0.796	D	0.88867	0.3330	10	0.87932	D	0	.	16.4407	0.83900	0.0:0.0:1.0:0.0	.	182;231;327;326	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	F	326;327;231	ENSP00000326381:V326F;ENSP00000398370:V327F;ENSP00000348925:V231F	ENSP00000326381:V326F	V	+	1	0	EIF4A2	187988044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.826000	0.97356	0.563000	0.77884	GTT		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		34	123	1	0	2.68985e-26	0.00361	4.12062e-26	34	123				
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:905514T>A	ENST00000314167.4	-	4	439	c.329A>T	c.(328-330)gAg>gTg	p.E110V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E110V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTCTGACTCCTCTTTTCCTAT	0.507																																							uc003gbm.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(328-330)GAG>GTG		cyclin G associated kinase							105.0	103.0	104.0					4																	905514		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:905514T>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.329A>T	4.37:g.905514T>A	ENSP00000314499:p.Glu110Val					GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_5'UTR	p.E110V	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	4	528	-			110			Protein kinase.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.329A>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390279	0.82902	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511229	T;T	0.20881	2.04;2.04	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051878	0.85682	D	0.000000	T	0.29976	0.0750	L	0.52126	1.63	0.80722	D	1	P	0.45011	0.848	P	0.50537	0.643	T	0.03184	-1.1063	10	0.62326	D	0.03	-24.7142	12.3264	0.55013	0.0:0.0:0.0:1.0	.	110	O14976	GAK_HUMAN	V	110;110;22	ENSP00000314499:E110V;ENSP00000422391:E22V	ENSP00000314499:E110V	E	-	2	0	GAK	895514	1.000000	0.71417	0.984000	0.44739	0.833000	0.47200	7.435000	0.80391	1.855000	0.53841	0.462000	0.41574	GAG		0.507	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		5	32	0	0	0	0.00308	0	5	32				
BLOC1S4	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:6718442C>T	ENST00000320776.3	+	1	601	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_018366.2	NP_060836.1	Q9NUP1	BL1S4_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	169					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|platelet aggregation (GO:0070527)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A169V(2)									TTCCCCAGGGCGTTCAAGAAG	0.657																																							uc003gjp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(505-507)GCG>GTG		cappuccino							32.0	36.0	34.0					4																	6718442		2203	4300	6503	SO:0001583	missense	55330				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol		g.chr4:6718442C>T	BC001818	CCDS3393.1	4p16.1	2012-08-01	2012-08-01	2012-08-01	ENSG00000186222	ENSG00000186222		"""Biogenesis of lysosomal organelles complex-1 subunits"""	24206	protein-coding gene	gene with protein product		605695	"""cappuccino homolog (mouse)"""	CNO		12576321, 11110696	Standard	NM_018366		Approved	FLJ11230, BCAS4L	uc003gjp.1	Q9NUP1	OTTHUMG00000125510	ENST00000320776.3:c.506C>T	4.37:g.6718442C>T	ENSP00000318128:p.Ala169Val						p.A169V	NM_018366	NP_060836	Q9NUP1	CNO_HUMAN		Colorectal(103;0.0523)	1	601	+			169					Q6NVY6|Q96G84	Missense_Mutation	SNP	ENST00000320776.3	37	c.506C>T	CCDS3393.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801386	0.90538	.	.	ENSG00000186222	ENST00000320776	T	0.49432	0.78	4.12	3.27	0.37495	.	0.346611	0.33235	N	0.005124	T	0.38719	0.1051	L	0.55990	1.75	0.09310	N	1	P	0.52170	0.951	B	0.41946	0.371	T	0.22487	-1.0215	10	0.27785	T	0.31	-25.4307	8.0192	0.30400	0.0:0.8881:0.0:0.1119	.	169	Q9NUP1	CNO_HUMAN	V	169	ENSP00000318128:A169V	ENSP00000318128:A169V	A	+	2	0	CNO	6769343	0.735000	0.28153	0.001000	0.08648	0.794000	0.44872	5.413000	0.66399	1.098000	0.41479	0.561000	0.74099	GCG		0.657	BLOC1S4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246837.1	NM_018366		3	26	0	0	0	0.009096	0	3	26				
BOD1L1	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:13605956A>G	ENST00000040738.5	-	10	2703	c.2568T>C	c.(2566-2568)ggT>ggC	p.G856G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	856	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G856G(2)									GTTGCTTGGAACCCAGAGAAT	0.368																																							uc003gmz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|breast(1)	6						c.(2566-2568)GGT>GGC		biorientation of chromosomes in cell division							112.0	111.0	111.0					4																	13605956		2202	4299	6501	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13605956A>G	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.2568T>C	4.37:g.13605956A>G						BOD1L_uc010idr.1_Silent_p.G193G	p.G856G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2685	-			856			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.2568T>C	CCDS3411.2																																																																																				0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	82	0	0	0	0.000602	0	3	82				
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:25014018G>A	ENST00000382114.4	-	7	944	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region (GO:0005576)		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468																																							uc003grf.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(757-759)AAC>AAT		leucine-rich repeat LGI family, member 2							162.0	133.0	142.0					4																	25014018		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25014018G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.759C>T	4.37:g.25014018G>A							p.N253N	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			7	858	-		Breast(46;0.173)	253			EAR 1.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.759C>T	CCDS3431.1																																																																																				0.468	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			49	281	0	0	0	0.00361	0	49	281				
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:40440430T>A	ENST00000381793.2	-	3	877	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	RBM47_ENST00000514014.1_Missense_Mutation_p.M123L|RBM47_ENST00000319592.4_Missense_Mutation_p.M161L|RBM47_ENST00000381795.6_Missense_Mutation_p.M161L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.M161L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M161L(6)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTCTTCATCTTGGGGATC	0.627																																							uc003gvc.2		NA																	6	Substitution - Missense(6)		lung(6)	breast(3)	3						c.(481-483)ATG>TTG		RNA binding motif protein 47 isoform a							47.0	43.0	44.0					4																	40440430		2201	4299	6500	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440430T>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.481A>T	4.37:g.40440430T>A	ENSP00000371212:p.Met161Leu					RBM47_uc003gvd.2_Missense_Mutation_p.M161L|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.M123L|RBM47_uc003gvg.1_Missense_Mutation_p.M161L	p.M161L	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1191	-			161			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.481A>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.847558	0.51164	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473	T;T;T;T;T;T;T	0.21361	2.42;2.42;2.42;2.42;2.42;2.42;2.01	5.47	5.47	0.80525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.076844	0.85682	D	0.000000	T	0.13415	0.0325	N	0.08118	0	0.48762	D	0.999709	B;B	0.11235	0.004;0.0	B;B	0.14578	0.011;0.006	T	0.06285	-1.0835	10	0.54805	T	0.06	-29.0653	15.5455	0.76097	0.0:0.0:0.0:1.0	.	161;161	A0AV96-2;A0AV96	.;RBM47_HUMAN	L	161;161;161;161;123;161;161	ENSP00000320108:M161L;ENSP00000371212:M161L;ENSP00000371214:M161L;ENSP00000295971:M161L;ENSP00000423243:M123L;ENSP00000422564:M161L;ENSP00000421589:M161L	ENSP00000295971:M161L	M	-	1	0	RBM47	40135187	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	6.289000	0.72696	2.080000	0.62538	0.260000	0.18958	ATG		0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		9	23	0	0	0	0.006214	0	9	23				
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:41750472C>A	ENST00000226382.2	-	1	515	c.156G>T	c.(154-156)ggG>ggT	p.G52G	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.G52G(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CGGACGTGGCCCCAAAAGTGG	0.627			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		2	Substitution - coding silent(2)		lung(2)	autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(154-156)GGG>GGT		paired-like homeobox 2b							40.0	41.0	41.0					4																	41750472		2203	4300	6503	SO:0001819	synonymous_variant	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41750472C>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.156G>T	4.37:g.41750472C>A							p.G52G	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			1	516	-			52					Q6PJD9	Silent	SNP	ENST00000226382.2	37	c.156G>T	CCDS3463.1																																																																																				0.627	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			8	46	1	0	0.00307968	0.00308	0.0032481	8	46				
PHOX2B	8929	broad.mit.edu	37	4	41750491	41750491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:41750491G>T	ENST00000226382.2	-	1	496	c.137C>A	c.(136-138)cCg>cAg	p.P46Q	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	46					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.P46Q(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGTCCTTATCGGGTTATACTG	0.627			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		1	Substitution - Missense(1)		lung(1)	autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(136-138)CCG>CAG		paired-like homeobox 2b							38.0	39.0	38.0					4																	41750491		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41750491G>T	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.137C>A	4.37:g.41750491G>T	ENSP00000226382:p.Pro46Gln						p.P46Q	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			1	497	-			46					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.137C>A	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545631	0.65198	.	.	ENSG00000109132	ENST00000226382	D	0.91351	-2.83	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.94265	0.8158	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.63957	0.92	D	0.94092	0.7354	10	0.56958	D	0.05	.	19.4899	0.95046	0.0:0.0:1.0:0.0	.	46	Q99453	PHX2B_HUMAN	Q	46	ENSP00000226382:P46Q	ENSP00000226382:P46Q	P	-	2	0	PHOX2B	41445248	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.626000	0.98410	2.611000	0.88343	0.555000	0.69702	CCG		0.627	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			6	52	1	0	0.00116845	0.001168	0.00123961	6	52				
YIPF7	285525	broad.mit.edu	37	4	44626769	44626769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:44626769C>A	ENST00000332990.5	-	5	545	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C	YIPF7_ENST00000415895.4_Missense_Mutation_p.G153C	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	177						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G177C(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCACTCATGCCATACACATAA	0.478																																							uc010ifx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(529-531)GGC>TGC		Yip1 domain family, member 7							71.0	73.0	72.0					4																	44626769		2046	4201	6247	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44626769C>A	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.529G>T	4.37:g.44626769C>A	ENSP00000332772:p.Gly177Cys						p.G177C	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN			5	546	-			177			Helical; (Potential).		Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.529G>T	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.176249|4.176249	0.78564|0.78564	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.51817|.	0.69|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Yip1 domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.81936|0.81936	0.4928|0.4928	M|M	0.93898|0.93898	3.47|3.47	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85576|0.85576	0.1237|0.1237	9|5	0.66056|.	D|.	0.02|.	-4.2219|-4.2219	11.1575|11.1575	0.48497|0.48497	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	177|.	Q8N8F6|.	YIPF7_HUMAN|.	C|L	177|153	ENSP00000332772:G177C|.	ENSP00000332772:G177C|.	G|W	-|-	1|2	0|0	YIPF7|YIPF7	44321526|44321526	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.961000|0.961000	0.63080|0.63080	5.863000|5.863000	0.69568|0.69568	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.478	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		32	98	1	0	2.45108e-15	0.00874	3.2681e-15	32	98				
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:47427876G>T	ENST00000295454.3	+	9	1558	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	GABRB1_ENST00000538619.1_Silent_p.G352G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	422					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.G422G(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	ACCGGCACGGGGTACCCAGCA	0.627																																							uc003gxh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1264-1266)GGG>GGT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						50.0	54.0	52.0					4																	47427876		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427876G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1266G>T	4.37:g.47427876G>T						GABRB1_uc011bze.1_Silent_p.G352G	p.G422G	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1640	+			422			Cytoplasmic (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1266G>T	CCDS3474.1																																																																																				0.627	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			12	65	1	0	2.61681e-11	0.00245	3.2597e-11	12	65				
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:48114498C>T	ENST00000264316.4	-	4	291	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.R69Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAGTGGCTTTCGTTTTGACGG	0.433																																							uc003gxx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(205-207)CGA>CAA		TXK tyrosine kinase							96.0	98.0	97.0					4																	48114498		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48114498C>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.206G>A	4.37:g.48114498C>T	ENSP00000264316:p.Arg69Gln					TXK_uc003gxy.1_Missense_Mutation_p.R69Q	p.R69Q	NM_003328	NP_003319	P42681	TXK_HUMAN			4	292	-			69			Nuclear localization signal (Potential).		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.206G>A	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460020	0.43736	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.16897	2.31;2.31	5.12	5.12	0.69794	Src homology-3 domain (1);	0.298918	0.25651	N	0.029212	T	0.11324	0.0276	L	0.29908	0.895	0.80722	D	1	P;P	0.52692	0.955;0.527	B;B	0.38194	0.267;0.054	T	0.15549	-1.0433	10	0.14252	T	0.57	.	13.9414	0.64057	0.0:1.0:0.0:0.0	.	69;69	E7EQN8;P42681	.;TXK_HUMAN	Q	69	ENSP00000264316:R69Q;ENSP00000422798:R69Q	ENSP00000264316:R69Q	R	-	2	0	TXK	47809255	0.950000	0.32346	0.990000	0.47175	0.195000	0.23768	1.176000	0.31957	2.681000	0.91329	0.563000	0.77884	CGA		0.433	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		16	304	0	0	0	0.00278	0	16	304				
LRRC66	339977	broad.mit.edu	37	4	52860545	52860545	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:52860545T>G	ENST00000343457.3	-	4	2649	c.2643A>C	c.(2641-2643)taA>taC	p.*881Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	0						integral component of membrane (GO:0016021)		p.*881Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGATTCTTATTTTAAAA	0.383																																							uc003gzi.2		NA																	1	Nonstop extension(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2641-2643)TAA>TAC		leucine rich repeat containing 66							47.0	43.0	44.0					4																	52860545		1825	4078	5903	SO:0001578	stop_lost	339977					integral to membrane		g.chr4:52860545T>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2643A>C	4.37:g.52860545T>G							p.*881Y	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2656	-			881						Nonstop_Mutation	SNP	ENST00000343457.3	37	c.2643A>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	0.237	-1.016881	0.02078	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.56	-9.12	0.00707	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9816	0.01437	0.1715:0.3062:0.1626:0.3597	.	.	.	.	Y	881	.	.	X	-	3	2	LRRC66	52555302	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.340000	0.00506	-2.304000	0.00655	0.533000	0.62120	TAA		0.383	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		12	159	0	0	0	0.001368	0	12	159				
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:57182405G>T	ENST00000504228.1	+	6	2842	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A913S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A906S			Q6ZU35	K1211_HUMAN	KIAA1211	913								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCGGAAGCAAGCCCCTTCCAC	0.687																																							uc003hbk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2737-2739)GCC>TCC		hypothetical protein LOC57482							35.0	46.0	42.0					4																	57182405		2112	4233	6345	SO:0001583	missense	57482							g.chr4:57182405G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2737G>T	4.37:g.57182405G>T	ENSP00000423366:p.Ala913Ser					KIAA1211_uc010iha.2_Missense_Mutation_p.A906S|KIAA1211_uc011bzz.1_Missense_Mutation_p.A823S|KIAA1211_uc003hbm.1_Missense_Mutation_p.A799S	p.A913S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3128	+	Glioma(25;0.08)|all_neural(26;0.101)		913					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2737G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342816	0.24339	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12465	2.68;2.68;2.68	5.27	2.53	0.30540	.	.	.	.	.	T	0.14614	0.0353	L	0.56769	1.78	0.09310	N	1	B;B;B	0.26845	0.161;0.05;0.05	B;B;B	0.26770	0.073;0.033;0.033	T	0.19745	-1.0296	9	0.46703	T	0.11	-1.5394	8.0249	0.30431	0.2634:0.1094:0.6273:0.0	.	906;906;913	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	913;913;906;823	ENSP00000264229:A913S;ENSP00000423366:A913S;ENSP00000444006:A906S	ENSP00000264229:A913S	A	+	1	0	KIAA1211	56877162	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.484000	0.22308	-0.024000	0.13941	-1.598000	0.00824	GCC		0.687	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		9	26	1	0	4.68919e-08	0.008291	5.49276e-08	9	26				
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.Q730K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCAAACTGTCCCATGATA	0.388										TSP Lung(17;0.13)																													uc003hcy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2188-2190)CAG>AAG		ephrin receptor EphA5 isoform a precursor							230.0	219.0	223.0					4																	66230783		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66230783G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2188C>A	4.37:g.66230783G>T	ENSP00000273854:p.Gln730Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.Q662K|EPHA5_uc003hcz.2_Missense_Mutation_p.Q708K|EPHA5_uc011cah.1_Missense_Mutation_p.Q731K|EPHA5_uc011cai.1_Missense_Mutation_p.Q709K|EPHA5_uc003hda.2_Missense_Mutation_p.Q731K	p.Q730K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			12	2381	-			730			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2188C>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255840	0.95336	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000034	T	0.80824	0.4697	N	0.04245	-0.25	0.80722	D	1	D;D;D;D	0.71674	0.993;0.997;0.992;0.998	D;D;D;D	0.87578	0.983;0.998;0.971;0.978	D	0.86023	0.1508	10	0.87932	D	0	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	709;731;708;730	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	730;567;708;731	ENSP00000273854:Q730K;ENSP00000389208:Q567K;ENSP00000346899:Q708K;ENSP00000427638:Q731K	ENSP00000273854:Q730K	Q	-	1	0	EPHA5	65913378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.724000	0.93272	0.650000	0.86243	CAG		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		140	582	1	0	9.97597e-95	0.00361	1.90354e-94	140	582				
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	T	A	rs370473803		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:68436840T>A	ENST00000265404.2	+	2	241	c.159T>A	c.(157-159)acT>acA	p.T53T	STAP1_ENST00000396225.1_Silent_p.T53T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.T53T(2)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGGAACTACTCTTTTCTTTT	0.308																																							uc003hde.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(157-159)ACT>ACA		signal transducing adaptor family member 1		T		0,4406		0,0,2203	139.0	159.0	152.0		159	-3.4	1.0	4		152	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	STAP1	NM_012108.2		0,1,6501	AA,AT,TT		0.0116,0.0,0.0077		53/296	68436840	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436840T>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.159T>A	4.37:g.68436840T>A						STAP1_uc003hdf.2_Silent_p.T53T	p.T53T	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN			2	241	+			53			PH.		B2R980	Silent	SNP	ENST00000265404.2	37	c.159T>A	CCDS3515.1																																																																																				0.308	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		142	369	0	0	0	0.00361	0	142	369				
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:69811061C>T	ENST00000251566.4	-	2	857	c.827G>A	c.(826-828)gGa>gAa	p.G276E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	276					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAATCCTCCAACAAACTC	0.368																																							uc003hef.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(826-828)GGA>GAA		UDP glucuronosyltransferase 2 family,							109.0	97.0	101.0					4																	69811061		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69811061C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.827G>A	4.37:g.69811061C>T	ENSP00000251566:p.Gly276Glu					UGT2A3_uc010ihp.1_RNA	p.G276E	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			2	858	-			276			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.827G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885820	0.33348	.	.	ENSG00000135220	ENST00000251566	D	0.88975	-2.45	3.24	2.37	0.29283	.	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	H	0.95611	3.695	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.94420	0.7640	10	0.87932	D	0	.	9.4654	0.38809	0.2136:0.7863:0.0:0.0	.	276	Q6UWM9	UD2A3_HUMAN	E	276	ENSP00000251566:G276E	ENSP00000251566:G276E	G	-	2	0	UGT2A3	69845650	0.997000	0.39634	0.644000	0.29465	0.158000	0.22134	4.330000	0.59266	0.652000	0.30806	0.491000	0.48974	GGA		0.368	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		46	210	0	0	0	0.00361	0	46	210				
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:70513291C>A	ENST00000503640.1	-	1	127	c.72G>T	c.(70-72)ttG>ttT	p.L24F	UGT2A1_ENST00000286604.4_Missense_Mutation_p.L24F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L24F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	24					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L24F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCAAATCAAAACATTCC	0.398																																							uc003hem.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(70-72)TTG>TTT		UDP glucuronosyltransferase 2 family,							60.0	57.0	58.0					4																	70513291		2203	4298	6501	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70513291C>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.72G>T	4.37:g.70513291C>A	ENSP00000424478:p.Leu24Phe					UGT2A1_uc011caq.1_Missense_Mutation_p.L24F|UGT2A1_uc010ihu.2_Missense_Mutation_p.L24F|UGT2A1_uc010iht.2_Missense_Mutation_p.L24F	p.L24F	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	135	-			24			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.72G>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012307	0.54468	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.71461	-0.57;-0.46;-0.57;-0.57;-0.57	5.89	-1.9	0.07665	.	0.089400	0.43747	D	0.000538	D	0.85323	0.5670	H	0.95187	3.635	.	.	.	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.91635	0.999;0.998;0.939;0.999	D	0.86191	0.1612	9	0.87932	D	0	.	9.4247	0.38572	0.1062:0.2893:0.5405:0.0639	.	24;24;24;24	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	F	24	ENSP00000424478:L24F;ENSP00000421432:L24F;ENSP00000425497:L24F;ENSP00000286604:L24F;ENSP00000427709:L24F	ENSP00000286604:L24F	L	-	3	2	UGT2A1	70547880	0.994000	0.37717	0.943000	0.38184	0.738000	0.42128	0.351000	0.20096	-0.380000	0.07894	-0.182000	0.12963	TTG		0.398	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		25	132	1	0	0.000147802	0.00632	0.000162386	25	132				
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	174					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308																																							uc003hfe.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(100-102)GAT>CAT		casein kappa precursor							83.0	83.0	83.0					4																	71114727		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114727G>C	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.100G>C	4.37:g.71114727G>C	ENSP00000304822:p.Asp34His						p.D34H	NM_005212	NP_005203	P07498	CASK_HUMAN			4	158	+			34					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.100G>C	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837715	0.32513	.	.	ENSG00000171209	ENST00000304954	T	0.27720	1.65	4.38	0.718	0.18202	.	1.171400	0.06074	N	0.660560	T	0.39462	0.1079	L	0.55990	1.75	0.09310	N	1	P	0.41345	0.746	P	0.49502	0.613	T	0.36432	-0.9748	10	0.87932	D	0	-9.8418	6.4898	0.22109	0.4195:0.0:0.5805:0.0	.	34	P07498	CASK_HUMAN	H	34	ENSP00000304822:D34H	ENSP00000304822:D34H	D	+	1	0	CSN3	71149316	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	0.340000	0.19892	0.089000	0.17243	-0.262000	0.10625	GAT		0.308	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		31	157	0	0	0	0.003271	0	31	157				
USO1	8615	broad.mit.edu	37	4	76703986	76703986	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:76703986T>A	ENST00000538159.1	+	9	836	c.836T>A	c.(835-837)gTg>gAg	p.V279E	USO1_ENST00000514213.2_Missense_Mutation_p.V262E			O60763	USO1_HUMAN	USO1 vesicle transport factor	277	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.V279E(1)|p.V205E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCACAGAAAGTGACCAATCTA	0.338																																							uc003hiu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(829-831)GTG>GAG		USO1 homolog, vesicle docking protein							39.0	38.0	38.0					4																	76703986		1823	4087	5910	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76703986T>A	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.836T>A	4.37:g.76703986T>A	ENSP00000440586:p.Val279Glu					USO1_uc003hiv.2_Missense_Mutation_p.V112E|USO1_uc003hiw.2_Missense_Mutation_p.V112E	p.V277E	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	1005	+			277			ARM 5.|Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.830T>A		.	.	.	.	.	.	.	.	.	.	T	22.2	4.257436	0.80246	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.51071	0.72;0.72	5.68	4.49	0.54785	Armadillo-type fold (1);	0.054132	0.64402	D	0.000001	T	0.68192	0.2974	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69824	0.964;0.966	T	0.70857	-0.4758	10	0.56958	D	0.05	.	11.4834	0.50339	0.0:0.0702:0.0:0.9298	.	279;277	F5GYR8;O60763	.;USO1_HUMAN	E	112;279;262;205	ENSP00000440586:V279E;ENSP00000444850:V262E	ENSP00000264904:V205E	V	+	2	0	USO1	76923010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.782000	0.68973	0.965000	0.38133	0.533000	0.62120	GTG		0.338	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		5	130	0	0	0	0.001984	0	5	130				
FRAS1	80144	broad.mit.edu	37	4	79367972	79367972	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:79367972T>A	ENST00000264895.6	+	43	6388	c.5948T>A	c.(5947-5949)cTg>cAg	p.L1983Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1983					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L1983Q(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTTGAGCCTGCAAGACCTG	0.478																																							uc003hlb.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(5947-5949)CTG>CAG		Fraser syndrome 1							66.0	68.0	67.0					4																	79367972		1954	4160	6114	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79367972T>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.5948T>A	4.37:g.79367972T>A	ENSP00000264895:p.Leu1983Gln						p.L1983Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			43	6388	+			1982			CSPG 8.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.5948T>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055582	0.55325	.	.	ENSG00000138759	ENST00000264895	T	0.42131	0.98	5.57	5.57	0.84162	.	0.079005	0.51477	D	0.000083	T	0.59032	0.2164	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.61613	-0.7027	10	0.62326	D	0.03	.	15.7363	0.77846	0.0:0.0:0.0:1.0	.	1983	E9PHH6	.	Q	1983	ENSP00000264895:L1983Q	ENSP00000264895:L1983Q	L	+	2	0	FRAS1	79586996	1.000000	0.71417	0.995000	0.50966	0.143000	0.21401	6.826000	0.75298	2.133000	0.65898	0.528000	0.53228	CTG		0.478	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	48	0	0	0	0.000602	0	5	48				
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:81866088C>A	ENST00000358105.3	+	5	650	c.601C>A	c.(601-603)Cca>Aca	p.P201T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P218T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	201								p.P201T(2)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TAATGTGGACCCAAAGGTAAT	0.323																																							uc003hmf.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(601-603)CCA>ACA		hypothetical protein LOC255119							69.0	73.0	72.0					4																	81866088		2203	4296	6499	SO:0001583	missense	255119							g.chr4:81866088C>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.601C>A	4.37:g.81866088C>A	ENSP00000350818:p.Pro201Thr					C4orf22_uc010ijp.2_Missense_Mutation_p.P218T	p.P201T	NM_152770	NP_689983	Q6V702	CD022_HUMAN			5	650	+			201					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.601C>A	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510018	0.64522	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.32272	1.46;1.46	5.57	4.73	0.59995	.	0.065481	0.64402	D	0.000013	T	0.57213	0.2038	M	0.80508	2.5	0.41232	D	0.986587	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63875	-0.6538	10	0.72032	D	0.01	.	13.531	0.61621	0.0:0.9229:0.0:0.0771	.	218;201	E7EQ13;Q6V702	.;CD022_HUMAN	T	201;218	ENSP00000350818:P201T;ENSP00000425786:P218T	ENSP00000350818:P201T	P	+	1	0	C4orf22	82085112	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.447000	0.66606	1.351000	0.45789	-0.150000	0.13652	CCA		0.323	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		24	96	1	0	1.88708e-17	0.008361	2.6196e-17	24	96				
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:83740390G>T	ENST00000395310.2	-	27	3682	c.3500C>A	c.(3499-3501)aCc>aAc	p.T1167N	SEC31A_ENST00000326950.5_Missense_Mutation_p.T1128N|SEC31A_ENST00000505472.1_Missense_Mutation_p.T1198N|SEC31A_ENST00000432794.1_Missense_Mutation_p.T1180N|SEC31A_ENST00000448323.1_Missense_Mutation_p.T1167N|SEC31A_ENST00000508502.1_Missense_Mutation_p.T1152N|SEC31A_ENST00000505984.1_Missense_Mutation_p.T1113N|SEC31A_ENST00000348405.4_Missense_Mutation_p.T1128N|SEC31A_ENST00000264405.5_Missense_Mutation_p.T916N|SEC31A_ENST00000355196.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000311785.7_Missense_Mutation_p.T1053N|SEC31A_ENST00000509142.1_Missense_Mutation_p.T1053N|SEC31A_ENST00000500777.2_Missense_Mutation_p.T1014N|SEC31A_ENST00000513858.1_Missense_Mutation_p.T1014N|SEC31A_ENST00000443462.2_Missense_Mutation_p.T1147N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1167					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.T1167N(2)|p.T1180N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TAAACCACTGGTGATTGTTGG	0.393																																							uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	4	Substitution - Missense(4)		lung(4)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3499-3501)ACC>AAC		SEC31 homolog A isoform 1							172.0	154.0	160.0					4																	83740390		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83740390G>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3500C>A	4.37:g.83740390G>T	ENSP00000378721:p.Thr1167Asn					SEC31A_uc003hnd.2_Missense_Mutation_p.T336N|SEC31A_uc003hne.2_Missense_Mutation_p.T916N|SEC31A_uc011ccl.1_Missense_Mutation_p.T1113N|SEC31A_uc003hnl.2_Missense_Mutation_p.T1014N|SEC31A_uc003hng.2_Missense_Mutation_p.T1152N|SEC31A_uc003hnh.2_Missense_Mutation_p.T1167N|SEC31A_uc003hni.2_Missense_Mutation_p.T1053N|SEC31A_uc003hnj.2_Missense_Mutation_p.T1128N|SEC31A_uc011ccm.1_Missense_Mutation_p.T1147N|SEC31A_uc011ccn.1_Missense_Mutation_p.T1152N|SEC31A_uc003hnk.2_Missense_Mutation_p.T1128N|SEC31A_uc003hnm.2_Missense_Mutation_p.T1167N	p.T1167N	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			27	3664	-		Hepatocellular(203;0.114)	1167					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.3500C>A	CCDS3596.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.18|11.18|11.18	1.562530|1.562530|1.562530	0.27915|0.27915|0.27915	.|.|.	.|.|.	ENSG00000138674|ENSG00000138674|ENSG00000138674	ENST00000515062|ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.37752	.|.|1.38;1.24;2.43;2.42;1.29;2.31;2.43;1.38;1.29;1.18;1.24;2.43;2.43;3.26;2.38	5.77|5.77|5.77	4.58|4.58|4.58	0.56647|0.56647|0.56647	.|.|.	.|.|0.446586	.|.|0.24587	.|.|N	.|.|0.037257	T|T|T	0.19485|0.19485|0.19485	0.0468|0.0468|0.0468	N|N|N	0.03608|0.03608|0.03608	-0.345|-0.345|-0.345	0.19300|0.19300|0.19300	N|N|N	0.999972|0.999972|0.999972	.|.|P;B;B;B;B;B;B;B;B	.|.|0.35174	.|.|0.488;0.144;0.053;0.21;0.053;0.312;0.133;0.345;0.127	.|.|B;B;B;B;B;B;B;B;B	.|.|0.38880	.|.|0.072;0.035;0.053;0.152;0.053;0.152;0.072;0.284;0.152	T|T|T	0.12016|0.12016|0.12016	-1.0564|-1.0564|-1.0564	5|5|10	.|.|0.87932	.|.|D	.|.|0	-5.1409|-5.1409|-5.1409	8.9592|8.9592|8.9592	0.35836|0.35836|0.35836	0.9013:0.0:0.0987:0.0|0.9013:0.0:0.0987:0.0|0.9013:0.0:0.0987:0.0	.|.|.	.|.|1147;1113;1014;1128;1053;1152;1167;916;1180	.|.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.|.;.;.;.;.;.;SC31A_HUMAN;.;.	Q|T|N	127|330|1128;1014;1167;1147;1053;1180;1167;1128;1053;1198;1014;1152;1167;916;1113	.|.|ENSP00000337602:T1128N;ENSP00000426886:T1014N;ENSP00000378721:T1167N;ENSP00000408027:T1147N;ENSP00000426569:T1053N;ENSP00000407944:T1180N;ENSP00000400926:T1167N;ENSP00000325087:T1128N;ENSP00000309070:T1053N;ENSP00000421633:T1198N;ENSP00000421464:T1014N;ENSP00000424635:T1152N;ENSP00000347329:T1167N;ENSP00000264405:T916N;ENSP00000424451:T1113N	.|.|ENSP00000264405:T916N	H|P|T	-|-|-	3|1|2	2|0|0	SEC31A|SEC31A|SEC31A	83959414|83959414|83959414	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.030000|0.030000|0.030000	0.12068|0.12068|0.12068	7.224000|7.224000|7.224000	0.78042|0.78042|0.78042	1.004000|1.004000|1.004000	0.39156|0.39156|0.39156	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CCA|ACC		0.393	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		59	304	1	0	2.01178e-46	0.00361	3.48193e-46	59	304				
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:88767150C>A	ENST00000424957.3	+	4	1203	c.1130C>A	c.(1129-1131)gCa>gAa	p.A377E	MEPE_ENST00000361056.3_Missense_Mutation_p.A377E|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.A408E|MEPE_ENST00000540395.1_Missense_Mutation_p.A264E|MEPE_ENST00000497649.2_Missense_Mutation_p.A353E|MEPE_ENST00000560249.1_Missense_Mutation_p.A264E	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	377					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A377E(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACCCTCCTGCACCCTCAAAA	0.438																																							uc003hqy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1129-1131)GCA>GAA		matrix, extracellular phosphoglycoprotein with							45.0	46.0	46.0					4																	88767150		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767150C>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1130C>A	4.37:g.88767150C>A	ENSP00000416984:p.Ala377Glu					MEPE_uc010ikn.2_Missense_Mutation_p.A264E	p.A377E	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	1169	+		Hepatocellular(203;0.114)	377					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.1130C>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528642	0.44969	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.99	-4.28	0.03732	.	2.358680	0.01447	N	0.015346	T	0.36110	0.0955	M	0.61703	1.905	0.09310	N	1	P	0.40144	0.704	B	0.38428	0.273	T	0.38650	-0.9651	10	0.56958	D	0.05	2.5247	1.7174	0.02905	0.1194:0.2263:0.2346:0.4198	.	377	Q9NQ76	MEPE_HUMAN	E	377;408;353;264;377	ENSP00000416984:A377E;ENSP00000378534:A408E;ENSP00000422747:A353E;ENSP00000443491:A264E;ENSP00000354341:A377E	ENSP00000354341:A377E	A	+	2	0	MEPE	88986174	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.788000	0.01763	-0.556000	0.06134	0.655000	0.94253	GCA		0.438	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			15	81	1	0	6.31663e-08	0.003163	7.35918e-08	15	81				
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:88767161G>C	ENST00000424957.3	+	4	1214	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	MEPE_ENST00000361056.3_Missense_Mutation_p.E381Q|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.E412Q|MEPE_ENST00000540395.1_Missense_Mutation_p.E268Q|MEPE_ENST00000497649.2_Missense_Mutation_p.E357Q|MEPE_ENST00000560249.1_Missense_Mutation_p.E268Q	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	381					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E381Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACCCTCAAAAGAGAAAAGAAA	0.443																																							uc003hqy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1141-1143)GAG>CAG		matrix, extracellular phosphoglycoprotein with							51.0	51.0	51.0					4																	88767161		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767161G>C	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1141G>C	4.37:g.88767161G>C	ENSP00000416984:p.Glu381Gln					MEPE_uc010ikn.2_Missense_Mutation_p.E268Q	p.E381Q	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	1180	+		Hepatocellular(203;0.114)	381					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.1141G>C	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207971	0.58343	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.99	4.06	0.47325	.	0.934504	0.08988	N	0.864815	T	0.51500	0.1678	M	0.75615	2.305	0.09310	N	1	D	0.61697	0.99	P	0.50570	0.644	T	0.46541	-0.9184	10	0.56958	D	0.05	-4.4742	7.458	0.27278	0.1169:0.0:0.8831:0.0	.	381	Q9NQ76	MEPE_HUMAN	Q	381;412;357;268;381	ENSP00000416984:E381Q;ENSP00000378534:E412Q;ENSP00000422747:E357Q;ENSP00000443491:E268Q;ENSP00000354341:E381Q	ENSP00000354341:E381Q	E	+	1	0	MEPE	88986185	0.009000	0.17119	0.040000	0.18447	0.212000	0.24457	1.510000	0.35790	2.593000	0.87608	0.655000	0.94253	GAG		0.443	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			17	93	0	0	0	0.006122	0	17	93				
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:95210624G>T	ENST00000354268.4	+	24	3093	c.3020G>T	c.(3019-3021)gGt>gTt	p.G1007V	SMARCAD1_ENST00000509418.1_Splice_Site_p.G577V|SMARCAD1_ENST00000457823.2_Splice_Site_p.G1009V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1007	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.G1007V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCTACAGGTGATGAAGGG	0.308																																							uc003htc.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(3019-3021)GGT>GTT		SWI/SNF-related, matrix-associated							131.0	131.0	131.0					4																	95210624		2203	4300	6503	SO:0001630	splice_region_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95210624G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.3020-1G>T	4.37:g.95210624G>T						SMARCAD1_uc003htb.3_Missense_Mutation_p.G1009V|SMARCAD1_uc003htd.3_Missense_Mutation_p.G1009V|SMARCAD1_uc010ila.2_Missense_Mutation_p.G872V|SMARCAD1_uc011cdw.1_Missense_Mutation_p.G577V	p.G1007V	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	24	3275	+			1007			DEGD box.|Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.3020G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	9.674	1.147480	0.21288	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.91464	-2.47;-2.47;-2.47;-2.85	5.16	4.3	0.51218	Helicase, C-terminal (1);	0.138122	0.32952	N	0.005460	D	0.90703	0.7083	L	0.51422	1.61	0.80722	D	1	B;P	0.34864	0.342;0.473	B;P	0.45856	0.299;0.495	D	0.88112	0.2826	9	.	.	.	.	15.295	0.73898	0.0:0.1456:0.8544:0.0	.	1007;1009	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	V	1009;1009;1007;577	ENSP00000351947:G1009V;ENSP00000415576:G1009V;ENSP00000346217:G1007V;ENSP00000423286:G577V	.	G	+	2	0	SMARCAD1	95429647	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.705000	0.47127	1.120000	0.41904	0.561000	0.74099	GGT		0.308	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Missense_Mutation	83	366	1	0	1.46924e-35	0.00361	2.38614e-35	83	366				
STPG2	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:98480220C>T	ENST00000295268.3	-	11	1458	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	457								p.D457N(2)									CACATTATATCAGCAGCCATT	0.284																																							uc003htt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1369-1371)GAT>AAT		hypothetical protein LOC285555							87.0	96.0	93.0					4																	98480220		2201	4290	6491	SO:0001583	missense	285555							g.chr4:98480220C>T	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1369G>A	4.37:g.98480220C>T	ENSP00000295268:p.Asp457Asn						p.D457N	NM_174952	NP_777612	Q8N412	CD037_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	11	1459	-			457						Missense_Mutation	SNP	ENST00000295268.3	37	c.1369G>A	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	3.338	-0.135204	0.06711	.	.	ENSG00000163116	ENST00000295268	T	0.12879	2.64	2.37	-0.484	0.12071	.	6.082360	0.00567	U	0.000299	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23084	-1.0198	10	0.05620	T	0.96	2.6269	2.9087	0.05730	0.0:0.4511:0.242:0.3069	.	457	Q8N412	CD037_HUMAN	N	457	ENSP00000295268:D457N	ENSP00000295268:D457N	D	-	1	0	C4orf37	98699243	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.234000	0.09028	-0.183000	0.10585	-0.244000	0.11960	GAT		0.284	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		59	249	0	0	0	0.00361	0	59	249				
STPG2	285555	broad.mit.edu	37	4	98865110	98865110	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:98865110A>G	ENST00000295268.3	-	8	1071	c.982T>C	c.(982-984)Ttg>Ctg	p.L328L		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	328								p.L328L(1)									TTGTTAGTCAAGTTAGGTAAT	0.318																																							uc003htt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(982-984)TTG>CTG		hypothetical protein LOC285555							129.0	127.0	128.0					4																	98865110		2203	4300	6503	SO:0001819	synonymous_variant	285555							g.chr4:98865110A>G	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.982T>C	4.37:g.98865110A>G							p.L328L	NM_174952	NP_777612	Q8N412	CD037_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	8	1072	-			328						Silent	SNP	ENST00000295268.3	37	c.982T>C	CCDS3645.1																																																																																				0.318	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		11	430	0	0	0	0.001855	0	11	430				
ETNPPL	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:109670480C>T	ENST00000296486.3	-	8	995	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ETNPPL_ENST00000411864.2_Missense_Mutation_p.G275S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G223S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G241S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	281						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.G281S(2)									TGGCCGTTGCCCATCGGTTTT	0.468																																							uc003hzc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(841-843)GGC>AGC		alanine-glyoxylate aminotransferase 2-like 1							105.0	105.0	105.0					4																	109670480		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109670480C>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.841G>A	4.37:g.109670480C>T	ENSP00000296486:p.Gly281Ser					AGXT2L1_uc010imc.2_Missense_Mutation_p.G275S|AGXT2L1_uc011cfm.1_Missense_Mutation_p.G241S|AGXT2L1_uc011cfn.1_Missense_Mutation_p.G208S|AGXT2L1_uc011cfo.1_Missense_Mutation_p.G223S	p.G281S	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	8	1022	-			281					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.841G>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534256	0.85812	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.32	5.32	0.75619	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93549	0.7941	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.93708	0.7021	9	.	.	.	-24.6605	19.3659	0.94461	0.0:1.0:0.0:0.0	.	223;275;281	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	S	281;275;223;241	ENSP00000296486:G281S;ENSP00000392269:G275S;ENSP00000427065:G223S;ENSP00000423240:G241S	.	G	-	1	0	AGXT2L1	109889929	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	7.776000	0.85560	2.635000	0.89317	0.650000	0.86243	GGC		0.468	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		26	81	0	0	0	0.002096	0	26	81				
COL25A1	84570	broad.mit.edu	37	4	109861765	109861765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:109861765C>A	ENST00000399132.1	-	10	1132	c.602G>T	c.(601-603)gGc>gTc	p.G201V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G201V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G197V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.G201V(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGAGGGCCAGGGGGTCC	0.562																																							uc003hze.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(601-603)GGC>GTC		collagen, type XXV, alpha 1 isoform 1							59.0	61.0	60.0					4																	109861765		1868	4097	5965	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109861765C>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.602G>T	4.37:g.109861765C>A	ENSP00000382083:p.Gly201Val					COL25A1_uc003hzg.2_Missense_Mutation_p.G201V|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_5'UTR	p.G201V	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	9	1133	-		Hepatocellular(203;0.217)	201			Extracellular (Potential).|Collagen-like 2.			Missense_Mutation	SNP	ENST00000399132.1	37	c.602G>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509901	0.64522	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	D;D;D	0.99186	-5.53;-5.53;-5.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.99444	4.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97087	0.9788	9	.	.	.	-3.4984	19.3339	0.94307	0.0:1.0:0.0:0.0	.	201;201	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	201;203;197;197;201	ENSP00000382083:G201V;ENSP00000382078:G197V;ENSP00000382077:G201V	.	G	-	2	0	COL25A1	110081214	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.172000	0.77604	2.557000	0.86248	0.555000	0.69702	GGC		0.562	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		5	67	1	0	0.000157383	0.00308	0.000172213	5	67				
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:115773883G>C	ENST00000264363.2	-	8	2492	c.1814C>G	c.(1813-1815)aCa>aGa	p.T605R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.T605R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGG	0.303																																							uc003ibu.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(1813-1815)ACA>AGA		heparan sulfate N-deacetylase/N-sulfotransferase							120.0	116.0	118.0					4																	115773883		2203	4298	6501	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115773883G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1814C>G	4.37:g.115773883G>C	ENSP00000264363:p.Thr605Arg					NDST4_uc010imw.2_RNA	p.T605R	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	8	2493	-		Ovarian(17;0.156)	605			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.|PAPS (By similarity).		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1814C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602797	0.87157	.	.	ENSG00000138653	ENST00000264363	D	0.84660	-1.88	5.58	5.58	0.84498	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94546	0.7749	10	0.87932	D	0	.	19.5672	0.95398	0.0:0.0:1.0:0.0	.	605	Q9H3R1	NDST4_HUMAN	R	605	ENSP00000264363:T605R	ENSP00000264363:T605R	T	-	2	0	NDST4	115993332	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.461000	0.97646	2.616000	0.88540	0.655000	0.94253	ACA		0.303	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		24	71	0	0	0	0.003954	0	24	71				
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:118006108C>A	ENST00000310754.4	-	1	628	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	148	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D148Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTTGGGTCTGACAGGCAG	0.383																																							uc003ibv.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(442-444)GAC>TAC		translocation associated membrane protein 1-like							92.0	91.0	92.0					4																	118006108		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006108C>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.442G>T	4.37:g.118006108C>A	ENSP00000309402:p.Asp148Tyr						p.D148Y	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	629	-			148			Lumenal (Potential).|TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.442G>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320483	0.23994	.	.	ENSG00000174599	ENST00000310754	T	0.48836	0.8	4.29	3.45	0.39498	TRAM/LAG1/CLN8 homology domain (3);	0.095400	0.64402	D	0.000001	T	0.57740	0.2074	L	0.55990	1.75	0.22479	N	0.999069	D	0.55605	0.972	D	0.67103	0.949	T	0.45308	-0.9270	10	0.59425	D	0.04	-4.197	8.043	0.30532	0.0:0.8914:0.0:0.1086	.	148	Q8N609	TR1L1_HUMAN	Y	148	ENSP00000309402:D148Y	ENSP00000309402:D148Y	D	-	1	0	TRAM1L1	118225556	0.159000	0.22864	0.064000	0.19789	0.224000	0.24922	0.576000	0.23744	1.394000	0.46624	0.655000	0.94253	GAC		0.383	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		32	184	1	0	2.38352e-08	0.004289	2.81334e-08	32	184				
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119948371C>T	ENST00000429713.2	+	3	1029	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	SYNPO2_ENST00000307142.4_Missense_Mutation_p.R283W|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	283						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.R283W(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGACTGCCCCGGGTGGAAGT	0.557																																							uc003icm.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(847-849)CGG>TGG		synaptopodin 2 isoform b							73.0	72.0	73.0					4																	119948371		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948371C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.847C>T	4.37:g.119948371C>T	ENSP00000395143:p.Arg283Trp					SYNPO2_uc010ina.2_Missense_Mutation_p.R283W|SYNPO2_uc010inb.2_Missense_Mutation_p.R283W|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.R211W	p.R283W	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			3	1043	+			283					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.847C>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.84|17.84	3.488441|3.488441	0.64074|0.64074	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	T|T;T;T	0.09911|0.10382	2.93|2.88;2.92;2.91	5.11|5.11	4.13|4.13	0.48395|0.48395	.|.	.|0.331492	.|0.25194	.|N	.|0.032421	T|T	0.22205|0.22205	0.0535|0.0535	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|P;P;P;P	.|0.56916	.|0.72;0.809;0.72;0.72	T|T	0.00262|0.00262	-1.1867|-1.1867	7|10	0.87932|0.87932	D|D	0|0	-5.9604|-5.9604	10.2702|10.2702	0.43479|0.43479	0.3323:0.6677:0.0:0.0|0.3323:0.6677:0.0:0.0	.|.	.|283;283;283;283	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	L|W	234|283	ENSP00000425496:P234L|ENSP00000306015:R283W;ENSP00000395143:R283W;ENSP00000390965:R283W	ENSP00000425496:P234L|ENSP00000306015:R283W	P|R	+|+	2|1	0|2	SYNPO2|SYNPO2	120167819|120167819	0.987000|0.987000	0.35691|0.35691	0.989000|0.989000	0.46669|0.46669	0.604000|0.604000	0.37047|0.37047	2.901000|2.901000	0.48695|0.48695	2.523000|2.523000	0.85059|0.85059	0.557000|0.557000	0.71058|0.71058	CCG|CGG		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			28	65	0	0	0	0.002445	0	28	65				
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119951975G>T	ENST00000429713.2	+	4	2227	c.2045G>T	c.(2044-2046)gGa>gTa	p.G682V	SYNPO2_ENST00000307142.4_Missense_Mutation_p.G682V|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	682						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.G682V(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAAGAACAGGAATATTGCAG	0.498																																							uc003icm.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(2044-2046)GGA>GTA		synaptopodin 2 isoform b							82.0	90.0	88.0					4																	119951975		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951975G>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2045G>T	4.37:g.119951975G>T	ENSP00000395143:p.Gly682Val					SYNPO2_uc010ina.2_Missense_Mutation_p.G682V|SYNPO2_uc010inb.2_Missense_Mutation_p.G682V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.G610V	p.G682V	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	2241	+			682					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2045G>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.61|15.61	2.884143|2.884143	0.51908|0.51908	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.40225|.	1.04;1.52;1.11|.	5.18|5.18	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.64402|.	D|.	0.000013|.	T|T	0.71962|0.71962	0.3402|0.3402	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.999;1.0;0.999|.	T|T	0.71938|0.71938	-0.4441|-0.4441	9|5	.|.	.|.	.|.	-15.9627|-15.9627	13.7832|13.7832	0.63094|0.63094	0.0744:0.0:0.9255:0.0|0.0744:0.0:0.9255:0.0	.|.	682;682;682;682|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	V|S	682|633	ENSP00000306015:G682V;ENSP00000395143:G682V;ENSP00000390965:G682V|.	.|.	G|R	+|+	2|3	0|2	SYNPO2|SYNPO2	120171423|120171423	1.000000|1.000000	0.71417|0.71417	0.243000|0.243000	0.24186|0.24186	0.615000|0.615000	0.37417|0.37417	9.855000|9.855000	0.99526|0.99526	1.182000|1.182000	0.42928|0.42928	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.498	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			9	113	1	0	7.48243e-07	0.006214	8.5877e-07	9	113				
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:121631535C>T	ENST00000264808.3	-	15	1897	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	PRDM5_ENST00000515109.1_Missense_Mutation_p.G493D|PRDM5_ENST00000428209.2_Missense_Mutation_p.A522T|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGAAGGCCTTGCTGCAC	0.483																																							uc003idn.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(1657-1659)GCC>ACC		PR domain containing 5							154.0	111.0	125.0					4																	121631535		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121631535C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1657G>A	4.37:g.121631535C>T	ENSP00000264808:p.Ala553Thr					PRDM5_uc003ido.2_Missense_Mutation_p.A522T|PRDM5_uc010ine.2_Missense_Mutation_p.G493D	p.A553T	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			15	1907	-			553			C2H2-type 14.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1657G>A	CCDS3716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.171630|4.171630	0.78452|0.78452	.|.	.|.	ENSG00000138738|ENSG00000138738	ENST00000264808;ENST00000428209|ENST00000515109	T;T|T	0.13778|0.09350	2.56;2.56|2.99	5.45|5.45	5.45|5.45	0.79879|0.79879	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.059261|.	0.64402|.	D|.	0.000003|.	T|T	0.09686|0.09686	0.0238|0.0238	N|N	0.13327|0.13327	0.33|0.33	0.80722|0.80722	D|D	1|1	P;P|B	0.47253|0.26081	0.702;0.892|0.141	P;P|B	0.49421|0.28553	0.544;0.61|0.091	T|T	0.23332|0.23332	-1.0191|-1.0191	10|9	0.37606|0.87932	T|D	0.19|0	-13.0391|-13.0391	18.4116|18.4116	0.90554|0.90554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	522;553|493	Q9NQX1-2;Q9NQX1|Q0VAI9	.;PRDM5_HUMAN|.	T|D	553;522|493	ENSP00000264808:A553T;ENSP00000404832:A522T|ENSP00000422309:G493D	ENSP00000264808:A553T|ENSP00000422309:G493D	A|G	-|-	1|2	0|0	PRDM5|PRDM5	121850985|121850985	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	5.662000|5.662000	0.68032|0.68032	2.710000|2.710000	0.92621|0.92621	0.555000|0.555000	0.69702|0.69702	GCC|GGC		0.483	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			60	208	0	0	0	0.00361	0	60	208				
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:123260563G>T	ENST00000264501.4	+	72	12725	c.12352G>T	c.(12352-12354)Ggt>Tgt	p.G4118C	KIAA1109_ENST00000388738.3_Splice_Site_p.G4118C			Q2LD37	K1109_HUMAN	KIAA1109	4118	Ser-rich.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G4118C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATACCAGGTATAGATAA	0.313																																							uc003ieh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12352-12354)GGT>TGT		fragile site-associated protein							51.0	46.0	48.0					4																	123260563		1796	4068	5864	SO:0001630	splice_region_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123260563G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12352+1G>T	4.37:g.123260563G>T						KIAA1109_uc003iem.2_Missense_Mutation_p.G474C|KIAA1109_uc003ien.2_Missense_Mutation_p.G52C	p.G4118C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			70	12397	+			4118			Ser-rich.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.12352G>T	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.11|17.11|17.11	3.306813|3.306813|3.306813	0.60305|0.60305|0.60305	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802|ENST00000442707	T;T;T|.|.	0.35605|.|.	2.25;2.25;1.3|.|.	5.68|5.68|5.68	3.95|3.95|3.95	0.45737|0.45737|0.45737	.|.|.	8.442610|.|.	0.00960|.|.	N|.|.	0.003098|.|.	T|T|T	0.61837|0.61837|0.61837	0.2379|0.2379|0.2379	L|L|L	0.53249|0.53249|0.53249	1.67|1.67|1.67	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.76494|.|.	0.999;0.997|.|.	P;P|.|.	0.61003|.|.	0.882;0.766|.|.	T|T|T	0.60115|0.60115|0.60115	-0.7326|-0.7326|-0.7326	10|5|5	0.54805|.|.	T|.|.	0.06|.|.	.|.|.	12.5255|12.5255|12.5255	0.56083|0.56083|0.56083	0.1374:0.0:0.8626:0.0|0.1374:0.0:0.8626:0.0|0.1374:0.0:0.8626:0.0	.|.|.	4117;4118|.|.	Q2LD37-4;Q2LD37|.|.	.;K1109_HUMAN|.|.	C|H|M	4118;4118;787|493|63	ENSP00000264501:G4118C;ENSP00000373390:G4118C;ENSP00000410874:G787C|.|.	ENSP00000264501:G4118C|.|.	G|Q|R	+|+|+	1|3|2	0|2|0	KIAA1109|KIAA1109|KIAA1109	123480013|123480013|123480013	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.643000|0.643000|0.643000	0.38383|0.38383|0.38383	4.378000|4.378000|4.378000	0.59568|0.59568|0.59568	1.406000|1.406000|1.406000	0.46857|0.46857|0.46857	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGT|CAG|AGG		0.313	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Missense_Mutation	15	45	1	0	4.14922e-12	0.004007	5.27816e-12	15	45				
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:128632153G>T	ENST00000335251.6	+	14	2558	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	819					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.E819*(2)		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						TACCCTTGAAGAGGTGGCACA	0.418																																							uc003ifk.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2455-2457)GAG>TAG		PDZ domain containing 6							130.0	117.0	121.0					4																	128632153		2203	4300	6503	SO:0001587	stop_gained	27152							g.chr4:128632153G>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.2455G>T	4.37:g.128632153G>T	ENSP00000334003:p.Glu819*					INTU_uc011cgq.1_RNA	p.E819*	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			14	2525	+			819					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Nonsense_Mutation	SNP	ENST00000335251.6	37	c.2455G>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	41	8.638856	0.98895	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.43	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.8225	16.1085	0.81241	0.0:0.1338:0.8662:0.0	.	.	.	.	X	819	.	ENSP00000334003:E819X	E	+	1	0	INTU	128851603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.323000	0.79105	1.468000	0.48064	0.650000	0.86243	GAG		0.418	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		47	172	1	0	2.74695e-27	0.00361	4.23211e-27	47	172				
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:134084177G>T	ENST00000264360.5	+	4	3669	c.2843G>T	c.(2842-2844)gGc>gTc	p.G948V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	948					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G948V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAGCTCTGGGCCACTCAGAT	0.483																																							uc003iha.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2842-2844)GGC>GTC		protocadherin 10 isoform 1 precursor							186.0	156.0	167.0					4																	134084177		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084177G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2843G>T	4.37:g.134084177G>T	ENSP00000264360:p.Gly948Val						p.G948V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3669	+			948			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2843G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938723	0.52972	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.77620	-1.11	4.94	4.94	0.65067	.	0.000000	0.37178	N	0.002210	D	0.85457	0.5701	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85799	0.1372	10	0.56958	D	0.05	.	18.3153	0.90218	0.0:0.0:1.0:0.0	.	948	Q9P2E7	PCD10_HUMAN	V	948	ENSP00000264360:G948V	ENSP00000264360:G948V	G	+	2	0	PCDH10	134303627	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.208000	0.95075	2.717000	0.92951	0.650000	0.86243	GGC		0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		28	126	1	0	6.28921e-32	0.003271	1.00182e-31	28	126				
ELF2	1998	broad.mit.edu	37	4	139980627	139980627	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:139980627G>C	ENST00000394235.2	-	10	1758	c.1256C>G	c.(1255-1257)cCa>cGa	p.P419R	ELF2_ENST00000379549.2_Missense_Mutation_p.P342R|ELF2_ENST00000358635.3_Missense_Mutation_p.P371R|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.P359R|ELF2_ENST00000265495.4_Missense_Mutation_p.P419R|ELF2_ENST00000379550.1_Missense_Mutation_p.P431R	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.P419R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GACTACCTTTGGAGAGGTCGC	0.438																																							uc003ihp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1255-1257)CCA>CGA		E74-like factor 2 (ets domain transcription							79.0	73.0	75.0					4																	139980627		2203	4298	6501	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139980627G>C	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1256C>G	4.37:g.139980627G>C	ENSP00000377782:p.Pro419Arg					ELF2_uc003ihm.1_Missense_Mutation_p.P371R|ELF2_uc003ihn.1_Missense_Mutation_p.P359R|ELF2_uc003iho.1_Missense_Mutation_p.P342R|ELF2_uc011chc.1_Missense_Mutation_p.P234R	p.P419R	NM_201999	NP_973728	Q15723	ELF2_HUMAN			9	1462	-	all_hematologic(180;0.162)		431						Missense_Mutation	SNP	ENST00000394235.2	37	c.1256C>G	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386669	0.61956	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.12984	2.63;2.83;2.81;2.83;2.83;2.64	5.74	5.74	0.90152	.	0.192416	0.56097	D	0.000033	T	0.26484	0.0647	L	0.34521	1.04	0.58432	D	0.999998	D;D;D;P;D	0.67145	0.99;0.996;0.964;0.936;0.993	P;P;P;B;P	0.62089	0.797;0.898;0.535;0.317;0.769	T	0.00385	-1.1773	9	.	.	.	.	19.9185	0.97074	0.0:0.0:1.0:0.0	.	234;419;342;359;371	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	R	371;419;431;419;342;234;359	ENSP00000351458:P371R;ENSP00000377782:P419R;ENSP00000368868:P431R;ENSP00000265495:P419R;ENSP00000368867:P342R;ENSP00000426997:P359R	.	P	-	2	0	ELF2	140200077	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.778000	0.75043	2.716000	0.92895	0.650000	0.86243	CCA		0.438	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		9	326	0	0	0	0.006214	0	9	326				
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:139988852G>C	ENST00000394235.2	-	7	1065	c.563C>G	c.(562-564)cCa>cGa	p.P188R	ELF2_ENST00000379549.2_Intron|ELF2_ENST00000358635.3_Missense_Mutation_p.P140R|ELF2_ENST00000510408.1_Missense_Mutation_p.P128R|ELF2_ENST00000265495.4_Missense_Mutation_p.P188R|ELF2_ENST00000379550.1_Missense_Mutation_p.P200R	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.P188R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCCTTCTCTTGGTTTCTTCTT	0.358																																							uc003ihp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(562-564)CCA>CGA		E74-like factor 2 (ets domain transcription							106.0	109.0	108.0					4																	139988852		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139988852G>C	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.563C>G	4.37:g.139988852G>C	ENSP00000377782:p.Pro188Arg					ELF2_uc003ihm.1_Missense_Mutation_p.P140R|ELF2_uc003ihn.1_Missense_Mutation_p.P128R|ELF2_uc003iho.1_Intron|ELF2_uc010ioh.2_Missense_Mutation_p.P128R	p.P188R	NM_201999	NP_973728	Q15723	ELF2_HUMAN			6	769	-	all_hematologic(180;0.162)		200						Missense_Mutation	SNP	ENST00000394235.2	37	c.563C>G	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.325917	0.41197	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000510408	T;T;T;T;T	0.12984	2.63;2.86;2.82;2.86;2.65	5.55	5.55	0.83447	.	0.224065	0.47093	D	0.000241	T	0.08179	0.0204	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.33299	0.407;0.002;0.04;0.02	B;B;B;B	0.28385	0.089;0.012;0.051;0.088	T	0.39961	-0.9588	9	.	.	.	.	14.3641	0.66792	0.0:0.0:0.852:0.148	.	128;188;128;140	B0KYV4;Q15723-1;B7Z720;Q15723-3	.;.;.;.	R	140;188;200;188;128	ENSP00000351458:P140R;ENSP00000377782:P188R;ENSP00000368868:P200R;ENSP00000265495:P188R;ENSP00000426997:P128R	.	P	-	2	0	ELF2	140208302	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.862000	0.69560	2.612000	0.88384	0.655000	0.94253	CCA		0.358	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		33	103	0	0	0	0.006999	0	33	103				
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:147425062C>A	ENST00000507030.1	-	4	334	c.335G>T	c.(334-336)gGt>gTt	p.G112V	SLC10A7_ENST00000335472.7_Missense_Mutation_p.G112V|SLC10A7_ENST00000511374.1_Missense_Mutation_p.R66S|SLC10A7_ENST00000432059.2_Missense_Mutation_p.G112V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G112V|SLC10A7_ENST00000394059.4_Missense_Mutation_p.G112V|SLC10A7_ENST00000264986.3_Missense_Mutation_p.R66S			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	112					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G112V(4)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGGCATGCAACCTACTGTCTG	0.373																																							uc010ioz.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(334-336)GGT>GTT		solute carrier family 10 (sodium/bile acid							63.0	60.0	61.0					4																	147425062		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147425062C>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.335G>T	4.37:g.147425062C>A	ENSP00000421275:p.Gly112Val					SLC10A7_uc003ikr.2_Missense_Mutation_p.G112V|SLC10A7_uc010ipa.2_Missense_Mutation_p.G112V|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.G112V	p.G112V	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			4	589	-	all_hematologic(180;0.151)		112					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.335G>T	CCDS34073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.410502|2.410502	0.42715|0.42715	.|.	.|.	ENSG00000120519|ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059|ENST00000264986;ENST00000511374	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.196496|.	0.53938|.	D|.	0.000044|.	T|T	0.56046|0.56046	0.1959|0.1959	L|L	0.42245|0.42245	1.32|1.32	0.22050|0.22050	N|N	0.999391|0.999391	B;B;P;B|.	0.35944|.	0.123;0.43;0.529;0.376|.	B;B;B;B|.	0.34590|.	0.075;0.186;0.164;0.156|.	T|T	0.53173|0.53173	-0.8476|-0.8476	9|6	0.52906|0.56958	T|D	0.07|0.05	-9.0789|-9.0789	19.3919|19.3919	0.94585|0.94585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	112;112;112;112|.	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2|.	.;NTCP7_HUMAN;.;.|.	V|S	112|66	.|.	ENSP00000334594:G112V|ENSP00000264986:R66S	G|R	-|-	2|3	0|2	SLC10A7|SLC10A7	147644512|147644512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.064000|5.064000	0.64338|0.64338	2.589000|2.589000	0.87451|0.87451	0.536000|0.536000	0.68110|0.68110	GGT|AGG		0.373	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		19	108	1	0	1.87028e-06	0.001882	2.12846e-06	19	108				
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153691700C>A	ENST00000304337.2	-	2	1277	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363																																							uc003imy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(457-459)GGT>TGT		tigger transposable element derived 4							47.0	50.0	49.0					4																	153691700		2203	4299	6502	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691700C>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.457G>T	4.37:g.153691700C>A	ENSP00000355162:p.Gly153Cys						p.G153C	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	1239	-	all_hematologic(180;0.093)		153					Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.457G>T	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324138	0.24080	.	.	ENSG00000169989	ENST00000304337	T	0.15487	2.42	6.03	5.18	0.71444	.	0.530450	0.16046	N	0.232208	T	0.17492	0.0420	L	0.47716	1.5	0.31236	N	0.695732	B	0.33448	0.412	B	0.32980	0.156	T	0.05937	-1.0855	10	0.59425	D	0.04	-3.8248	11.5723	0.50841	0.0:0.8621:0.0:0.1379	.	153	Q8IY51	TIGD4_HUMAN	C	153	ENSP00000355162:G153C	ENSP00000355162:G153C	G	-	1	0	TIGD4	153911150	0.053000	0.20554	0.951000	0.38953	0.981000	0.71138	1.674000	0.37544	2.861000	0.98227	0.655000	0.94253	GGT		0.363	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		16	42	1	0	0.00121646	0.008871	0.00128928	16	42				
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153802270G>T	ENST00000451320.2	+	6	731	c.567G>T	c.(565-567)atG>atT	p.M189I	ARFIP1_ENST00000353617.2_Missense_Mutation_p.M189I|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Missense_Mutation_p.M157I|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000405727.2_Missense_Mutation_p.M157I			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)		p.M189I(4)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTTCCAGATGGTACATACCC	0.348																																							uc003imz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(565-567)ATG>ATT		ADP-ribosylation factor interacting protein 1							82.0	83.0	83.0					4																	153802270		2203	4300	6503	SO:0001583	missense	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153802270G>T	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.567G>T	4.37:g.153802270G>T	ENSP00000395083:p.Met189Ile					ARFIP1_uc003inb.2_Missense_Mutation_p.M157I|ARFIP1_uc003ina.2_Missense_Mutation_p.M157I|ARFIP1_uc003inc.2_Missense_Mutation_p.M189I|ARFIP1_uc011cij.1_Intron	p.M189I	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			6	843	+	all_hematologic(180;0.093)		189			AH.		Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	c.567G>T	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137417	0.56936	.	.	ENSG00000164144	ENST00000451320;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.74	5.74	0.90152	Arfaptin-like (3);	0.113799	0.85682	D	0.000000	T	0.72811	0.3507	L	0.54323	1.7	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.17098	0.012;0.017	T	0.65800	-0.6080	10	0.31617	T	0.26	-16.1014	19.9145	0.97053	0.0:0.0:1.0:0.0	.	157;189	Q2M2X4;P53367	.;ARFP1_HUMAN	I	189;189;157;157	ENSP00000395083:M189I;ENSP00000296557:M189I;ENSP00000384189:M157I;ENSP00000348360:M157I	ENSP00000296557:M189I	M	+	3	0	ARFIP1	154021720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.282000	0.51693	2.709000	0.92574	0.655000	0.94253	ATG		0.348	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		40	137	1	0	4.54978e-40	0.00361	7.63007e-40	40	137				
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153889217G>A	ENST00000511601.1	+	10	1374	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E396K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.E396K(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGATGGTGAACTTTGTCA	0.453																																							uc003inf.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1186-1188)GAA>AAA		FH2 domain containing 1							105.0	104.0	104.0					4																	153889217		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153889217G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1186G>A	4.37:g.153889217G>A	ENSP00000427567:p.Glu396Lys						p.E396K	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			9	1261	+	all_hematologic(180;0.093)		396			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.1186G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844345	0.91197	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.16897	2.31;2.31	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.090924	0.85682	D	0.000000	T	0.25938	0.0632	L	0.42686	1.345	0.58432	D	0.99999	P	0.51537	0.946	P	0.56343	0.796	T	0.00763	-1.1576	10	0.13853	T	0.58	.	14.1972	0.65679	0.0768:0.0:0.9232:0.0	.	396	Q9C0D6	FHDC1_HUMAN	K	396	ENSP00000427567:E396K;ENSP00000260008:E396K	ENSP00000260008:E396K	E	+	1	0	FHDC1	154108667	1.000000	0.71417	0.331000	0.25455	0.998000	0.95712	6.585000	0.74062	2.941000	0.99782	0.655000	0.94253	GAA		0.453	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		29	93	0	0	0	0.009535	0	29	93				
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155298498G>T	ENST00000357232.4	-	3	332	c.333C>A	c.(331-333)atC>atA	p.I111I	DCHS2_ENST00000339452.1_Silent_p.I717I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I111I(2)|p.I717I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGAGGGTCGATCCGGAATG	0.463																																							uc003inw.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(1)	4						c.(331-333)ATC>ATA		dachsous 2 isoform 1							126.0	117.0	120.0					4																	155298498		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155298498G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.333C>A	4.37:g.155298498G>T						DCHS2_uc003inx.2_Silent_p.I717I	p.I111I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	3	333	-	all_hematologic(180;0.208)	Renal(120;0.0854)	111			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.333C>A	CCDS3785.1																																																																																				0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		158	506	1	0	3.24732e-118	0.00361	6.25152e-118	158	506				
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155490753G>A	ENST00000302068.4	+	7	1109	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FGB_ENST00000509493.1_Missense_Mutation_p.G130E|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	349	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.G349E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GACTGGAAAGGAGACAAAGTA	0.413																																					NSCLC(106;1133 1613 21870 46110 52656)	NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1045-1047)GGA>GAA		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						103.0	99.0	101.0					4																	155490753		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490753G>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1046G>A	4.37:g.155490753G>A	ENSP00000306099:p.Gly349Glu					FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.G287E|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.G130E	p.G349E	NM_005141	NP_005132	P02675	FIBB_HUMAN			7	1085	+	all_hematologic(180;0.215)	Renal(120;0.0458)	349			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1046G>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293587	0.80914	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.82526	-1.62;-1.62	5.53	5.53	0.82687	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.945	D	0.93261	0.6643	10	0.87932	D	0	.	19.8195	0.96586	0.0:0.0:1.0:0.0	.	332;349	B4E1D3;P02675	.;FIBB_HUMAN	E	349;332;130	ENSP00000306099:G349E;ENSP00000426757:G130E	ENSP00000306099:G349E	G	+	2	0	FGB	155710203	1.000000	0.71417	0.994000	0.49952	0.842000	0.47809	5.324000	0.65863	2.756000	0.94617	0.655000	0.94253	GGA		0.413	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		15	283	0	0	0	0.006122	0	15	283				
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155670250G>T	ENST00000336356.3	+	3	908	c.655G>T	c.(655-657)Gca>Tca	p.A219S	LRAT_ENST00000507827.1_Missense_Mutation_p.A219S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	219					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)	p.A219S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TACCCTTCCTGCAATTTTTAT	0.393																																							uc003iom.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(655-657)GCA>TCA		lecithin retinol acyltransferase	Vitamin A(DB00162)						248.0	222.0	231.0					4																	155670250		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155670250G>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.655G>T	4.37:g.155670250G>T	ENSP00000337224:p.Ala219Ser					LRAT_uc003ion.1_Missense_Mutation_p.A219S	p.A219S	NM_004744	NP_004735	O95237	LRAT_HUMAN			2	982	+	all_hematologic(180;0.215)	Renal(120;0.0458)	219			Lumenal (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.655G>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510083	0.12883	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.48201	0.82;0.82	5.81	5.81	0.92471	.	0.218638	0.45361	D	0.000369	T	0.26231	0.0640	N	0.14661	0.345	0.30520	N	0.768496	B	0.23442	0.085	B	0.15484	0.013	T	0.16158	-1.0412	10	0.19147	T	0.46	-25.4653	7.6243	0.28204	0.1937:0.0:0.8063:0.0	.	219	O95237	LRAT_HUMAN	S	219	ENSP00000426761:A219S;ENSP00000337224:A219S	ENSP00000337224:A219S	A	+	1	0	LRAT	155889700	0.998000	0.40836	1.000000	0.80357	0.390000	0.30446	3.225000	0.51246	2.746000	0.94184	0.655000	0.94253	GCA		0.393	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		30	153	1	0	7.83172e-31	0.004289	1.24203e-30	30	153				
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	G	T	rs147783618		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:156135962G>T	ENST00000329476.3	+	2	1360	c.871G>T	c.(871-873)Gtt>Ttt	p.V291F	NPY2R_ENST00000506608.1_Missense_Mutation_p.V291F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.V291F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCAGCTTGCCGTTGACATTGA	0.527																																							uc003ioq.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)	3						c.(871-873)GTT>TTT		neuropeptide Y receptor Y2							99.0	82.0	88.0					4																	156135962		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135962G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.871G>T	4.37:g.156135962G>T	ENSP00000332591:p.Val291Phe					NPY2R_uc003ior.2_Missense_Mutation_p.V291F	p.V291F	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1366	+	all_hematologic(180;0.24)	Renal(120;0.0854)	291			Extracellular (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.871G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	9.729	1.161797	0.21538	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.57436	0.4;0.4	5.75	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.374882	0.27744	N	0.018029	T	0.37183	0.0994	L	0.28115	0.83	0.09310	N	1	P	0.44816	0.844	P	0.45119	0.47	T	0.21075	-1.0256	10	0.09843	T	0.71	.	7.3839	0.26872	0.2161:0.0:0.7839:0.0	.	291	P49146	NPY2R_HUMAN	F	291	ENSP00000332591:V291F;ENSP00000426366:V291F	ENSP00000332591:V291F	V	+	1	0	NPY2R	156355412	0.994000	0.37717	0.753000	0.31225	0.261000	0.26267	2.804000	0.47931	2.713000	0.92767	0.643000	0.83706	GTT		0.527	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		14	85	1	0	9.05144e-12	0.001855	1.14067e-11	14	85				
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:160273941G>T	ENST00000264431.4	+	21	3906	c.3487G>T	c.(3487-3489)Gtg>Ttg	p.V1163L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1163	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.V1151L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTTGACTCAGTGCCAGTCTC	0.478																																							uc003iqg.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3487-3489)GTG>TTG		Rap guanine nucleotide exchange factor 2							123.0	116.0	118.0					4																	160273941		1946	4142	6088	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160273941G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3487G>T	4.37:g.160273941G>T	ENSP00000264431:p.Val1163Leu						p.V1163L	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	21	3797	+	all_hematologic(180;0.24)		1163			Ser-rich.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3487G>T	CCDS43277.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.86|11.86|11.86	1.764803|1.764803|1.764803	0.31228|0.31228|0.31228	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000505026|ENST00000264431	.|T|T	.|0.38077|0.38560	.|1.16|1.13	5.77|5.77|5.77	2.72|2.72|2.72	0.32119|0.32119|0.32119	.|.|.	.|.|0.461649	.|.|0.24211	.|.|N	.|.|0.040533	T|T|T	0.15739|0.15739|0.15739	0.0379|0.0379|0.0379	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.23700|0.23700|0.23700	N|N|N	0.997076|0.997076|0.997076	.|.|B	.|.|0.02656	.|.|0.0	.|.|B	.|.|0.04013	.|.|0.001	T|T|T	0.17410|0.17410|0.17410	-1.0370|-1.0370|-1.0370	5|7|10	.|0.87932|0.09338	.|D|T	.|0|0.73	.|.|.	2.398|2.398|2.398	0.04394|0.04394|0.04394	0.1365:0.192:0.4769:0.1946|0.1365:0.192:0.4769:0.1946|0.1365:0.192:0.4769:0.1946	.|.|.	.|.|1163	.|.|Q9Y4G8	.|.|RPGF2_HUMAN	H|I|L	219|97|1163	.|ENSP00000427334:S97I|ENSP00000264431:V1163L	.|ENSP00000427334:S97I|ENSP00000264431:V1163L	Q|S|V	+|+|+	3|2|1	2|0|0	RAPGEF2|RAPGEF2|RAPGEF2	160493391|160493391|160493391	0.989000|0.989000|0.989000	0.36119|0.36119|0.36119	0.676000|0.676000|0.676000	0.29932|0.29932|0.29932	0.815000|0.815000|0.815000	0.46073|0.46073|0.46073	2.191000|2.191000|2.191000	0.42640|0.42640|0.42640	0.789000|0.789000|0.789000	0.33779|0.33779|0.33779	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAG|AGT|GTG		0.478	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		33	149	1	0	2.48696e-23	0.003271	3.69452e-23	33	149				
NPY1R	4886	broad.mit.edu	37	4	164247270	164247270	+	Missense_Mutation	SNP	C	C	T	rs148479836		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:164247270C>T	ENST00000296533.2	-	2	968	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R146Q(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCACCCTCGAGGGTTGAT	0.423																																							uc003iqm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(436-438)CGA>CAA		neuropeptide Y receptor Y1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	122.0	126.0		437	4.9	1.0	4	dbSNP_134	126	0,8600		0,0,4300	no	missense	NPY1R	NM_000909.5	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	146/385	164247270	1,13005	2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247270C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.437G>A	4.37:g.164247270C>T	ENSP00000354652:p.Arg146Gln					NPY1R_uc011cjj.1_Intron	p.R146Q	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	703	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	146			Cytoplasmic (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.437G>A	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452413	0.63290	2.27E-4	0.0	ENSG00000164128	ENST00000296533	T	0.37058	1.22	5.84	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.071998	0.56097	N	0.000033	T	0.32852	0.0843	L	0.58510	1.815	0.80722	D	1	P	0.51147	0.942	B	0.37888	0.26	T	0.11991	-1.0565	10	0.28530	T	0.3	.	14.5112	0.67789	0.0:0.9249:0.0:0.0751	.	146	P25929	NPY1R_HUMAN	Q	146	ENSP00000354652:R146Q	ENSP00000354652:R146Q	R	-	2	0	NPY1R	164466720	0.787000	0.28750	0.999000	0.59377	0.996000	0.88848	3.537000	0.53590	1.319000	0.45190	0.655000	0.94253	CGA		0.423	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			7	276	0	0	0	0.001984	0	7	276				
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:164393898G>T	ENST00000280605.3	-	1	1149	c.989C>A	c.(988-990)gCt>gAt	p.A330D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A330D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				gcccagtttagccagagccaa	0.428																																							uc003iqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)	5						c.(988-990)GCT>GAT		transketolase-like 2							121.0	120.0	120.0					4																	164393898		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393898G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.989C>A	4.37:g.164393898G>T	ENSP00000280605:p.Ala330Asp						p.A330D	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1150	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	330					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.989C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891449	0.52014	.	.	ENSG00000151005	ENST00000280605	D	0.91996	-2.95	4.08	2.33	0.28932	Transketolase-like, pyrimidine-binding domain (2);	0.216427	0.38058	N	0.001836	D	0.95519	0.8544	M	0.88450	2.955	0.52099	D	0.999943	D	0.67145	0.996	D	0.85130	0.997	D	0.94064	0.7329	10	0.87932	D	0	-4.521	6.9759	0.24674	0.0955:0.0:0.7314:0.1731	.	330	Q9H0I9	TKTL2_HUMAN	D	330	ENSP00000280605:A330D	ENSP00000280605:A330D	A	-	2	0	TKTL2	164613348	0.980000	0.34600	0.998000	0.56505	0.979000	0.70002	1.614000	0.36911	0.663000	0.31027	-0.181000	0.13052	GCT		0.428	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		43	195	1	0	1.32667e-27	0.00361	2.04979e-27	43	195				
MARCH1	55016	broad.mit.edu	37	4	165118379	165118379	+	Intron	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:165118379C>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G162V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCATCCAGGCCCTCCACGTG	0.537																																							uc011cjk.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(484-486)GGC>GTC		acidic nuclear phosphoprotein 32C							126.0	112.0	117.0					4																	165118379		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118379C>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85565G>T	4.37:g.165118379C>A						MARCH1_uc003iqs.1_Intron	p.G162V	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	485	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	162			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.485G>T	CCDS54814.1																																																																																				0.537	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		19	73	1	0	2.32416e-17	0.002299	3.2222e-17	19	73				
TRIM75P	391714	broad.mit.edu	37	4	165981615	165981615	+	IGR	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:165981615C>A								TRIM60 (18719 upstream) : RP11-219C20.3 (10144 downstream)																							TGTACTTTCACTGACACTTTT	0.443																																							uc011cjl.1		NA																	0					NA						c.(1315-1317)ACT>AAT		tripartite motif-containing 75							71.0	66.0	67.0					4																	165981615		1848	4097	5945	SO:0001628	intergenic_variant	0							g.chr4:165981615C>A																													4.37:g.165981615C>A							p.T439N	NM_001105575	NP_001099045					1	1316	+									Missense_Mutation	SNP		37	c.1316C>A																																																																																				0	0.443									33	41	1	0	1.06647e-15	0.003755	1.4308e-15	33	41				
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:166981296A>T	ENST00000061240.2	+	15	2610	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R678*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R655*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418																																							uc003irh.1		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1963-1965)AGA>TGA		tolloid-like 1 precursor							92.0	95.0	94.0					4																	166981296		2203	4300	6503	SO:0001587	stop_gained	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166981296A>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1963A>T	4.37:g.166981296A>T	ENSP00000061240:p.Arg655*					TLL1_uc011cjn.1_Nonsense_Mutation_p.R678*|TLL1_uc011cjo.1_Nonsense_Mutation_p.R479*	p.R655*	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	15	2610	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	655			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Nonsense_Mutation	SNP	ENST00000061240.2	37	c.1963A>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	43	10.219322	0.99361	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	.	.	.	6.08	4.86	0.63082	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2256	0.73348	0.8479:0.1521:0.0:0.0	.	.	.	.	X	655;678	.	ENSP00000061240:R655X	R	+	1	2	TLL1	167200746	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	1.899000	0.39818	2.333000	0.79357	0.482000	0.46254	AGA		0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			29	96	0	0	0	0.005524	0	29	96				
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:185697670C>A	ENST00000515030.1	-	7	1049	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ACSL1_ENST00000281455.2_Missense_Mutation_p.G242W|ACSL1_ENST00000513317.1_Missense_Mutation_p.G242W|ACSL1_ENST00000504342.1_Missense_Mutation_p.G242W|ACSL1_ENST00000454703.2_Missense_Mutation_p.G71W|ACSL1_ENST00000504900.1_Missense_Mutation_p.G242W|ACSL1_ENST00000437665.3_Missense_Mutation_p.G71W|ACSL1_ENST00000507295.1_Missense_Mutation_p.G208W			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.G242W(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCCACCCCACACCTCTGG	0.522																																							uc003iww.2		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)	ovary(2)	2						c.(724-726)GGG>TGG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						144.0	136.0	139.0					4																	185697670		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185697670C>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.724G>T	4.37:g.185697670C>A	ENSP00000422607:p.Gly242Trp					ACSL1_uc011ckm.1_Missense_Mutation_p.G71W|ACSL1_uc003iwt.1_Missense_Mutation_p.G242W|ACSL1_uc003iwu.1_Missense_Mutation_p.G242W|ACSL1_uc011ckn.1_Missense_Mutation_p.G208W|ACSL1_uc003iwv.1_Missense_Mutation_p.G242W|ACSL1_uc010ise.1_5'Flank	p.G242W	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	7	1018	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	242			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.724G>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271413	0.80469	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317;ENST00000504900	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.77	5.77	0.91146	AMP-dependent synthetase/ligase (1);	0.045838	0.85682	D	0.000000	T	0.80829	0.4698	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.998;1.0;0.998	D	0.87873	0.2672	10	0.87932	D	0	-23.6429	20.3473	0.98799	0.0:1.0:0.0:0.0	.	208;242;242;242	E7EPM6;B7Z452;D6RER0;P33121	.;.;.;ACSL1_HUMAN	W	71;242;242;208;71;242;242;242	ENSP00000407165:G71W;ENSP00000422607:G242W;ENSP00000281455:G242W;ENSP00000426244:G208W;ENSP00000405687:G71W;ENSP00000425006:G242W;ENSP00000426150:G242W;ENSP00000424935:G242W	ENSP00000281455:G242W	G	-	1	0	ACSL1	185934664	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.715000	0.84713	2.884000	0.98904	0.655000	0.94253	GGG		0.522	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		25	103	1	0	7.01153e-11	0.007291	8.67406e-11	25	103				
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	C	A	rs376390281		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:189068505C>A	ENST00000332517.3	+	6	1526	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C462*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCACCATCTGCTCACTGAACA	0.562																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1384-1386)TGC>TGA		tripartite motif family-like 1							42.0	44.0	43.0					4																	189068505		2203	4300	6503	SO:0001587	stop_gained	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068505C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1386C>A	4.37:g.189068505C>A	ENSP00000327738:p.Cys462*					TRIML1_uc003izn.1_Nonsense_Mutation_p.C186*	p.C462*	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1501	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	462			B30.2/SPRY.		Q96BE5	Nonsense_Mutation	SNP	ENST00000332517.3	37	c.1386C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	18.16	3.561147	0.65538	.	.	ENSG00000184108	ENST00000332517	.	.	.	4.91	4.07	0.47477	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.44417	D	0.99733	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5452	10.0173	0.42022	0.0:0.9039:0.0:0.0961	.	.	.	.	X	462	.	ENSP00000327738:C462X	C	+	3	2	TRIML1	189305499	0.893000	0.30496	0.995000	0.50966	0.144000	0.21451	0.147000	0.16202	1.411000	0.46957	0.645000	0.84053	TGC		0.562	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		9	30	1	0	1.3612e-06	0.003163	1.55074e-06	9	30				
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:1212589C>T	ENST00000304460.10	+	4	709	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	218					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.T218I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCGAGACCACCGGGAAG	0.672																																							uc003jbw.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(652-654)ACC>ATC		solute carrier family 6, member 19							77.0	73.0	74.0					5																	1212589		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1212589C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.653C>T	5.37:g.1212589C>T	ENSP00000305302:p.Thr218Ile						p.T218I	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	709	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		218			Cytoplasmic (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.653C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333149	0.81801	.	.	ENSG00000174358	ENST00000304460	T	0.74421	-0.84	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89214	0.3566	10	0.87932	D	0	.	19.0871	0.93209	0.0:1.0:0.0:0.0	.	218	Q695T7	S6A19_HUMAN	I	218	ENSP00000305302:T218I	ENSP00000305302:T218I	T	+	2	0	SLC6A19	1265589	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	5.746000	0.68681	2.586000	0.87340	0.491000	0.48974	ACC		0.672	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		9	43	0	0	0	0.006214	0	9	43				
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:1213592C>A	ENST00000304460.10	+	5	734	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	226					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.T226T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATCACCTCCACGCTGC	0.657																																							uc003jbw.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(676-678)ACC>ACA		solute carrier family 6, member 19							136.0	86.0	103.0					5																	1213592		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1213592C>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.678C>A	5.37:g.1213592C>A							p.T226T	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	734	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		226			Helical; Name=5; (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.678C>A	CCDS34130.1																																																																																				0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	15	1	0	0.00024832	0.009096	0.000270348	3	15				
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:5319167C>A	ENST00000274181.7	+	23	3729	c.3591C>A	c.(3589-3591)tgC>tgA	p.C1197*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1197	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1197*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCACTGGTGCTACCTGGTAC	0.532																																							uc003jdl.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(3589-3591)TGC>TGA		ADAM metallopeptidase with thrombospondin type 1							48.0	49.0	49.0					5																	5319167		2015	4177	6192	SO:0001587	stop_gained	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5319167C>A	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.3591C>A	5.37:g.5319167C>A	ENSP00000274181:p.Cys1197*						p.C1197*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			23	3729	+			1197			PLAC.		C6G490|Q8IVE2	Nonsense_Mutation	SNP	ENST00000274181.7	37	c.3591C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	40	8.341689	0.98769	.	.	ENSG00000145536	ENST00000274181	.	.	.	4.54	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7082	0.45966	0.0:0.9043:0.0:0.0957	.	.	.	.	X	1197	.	ENSP00000274181:C1197X	C	+	3	2	ADAMTS16	5372167	0.054000	0.20591	0.931000	0.37212	0.686000	0.39977	0.322000	0.19576	1.034000	0.39945	0.467000	0.42956	TGC		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		41	99	1	0	3.54909e-21	0.002852	5.13809e-21	41	99				
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:11346694C>A	ENST00000304623.8	-	9	1607	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	CTNND2_ENST00000458100.2_Missense_Mutation_p.G40V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G382V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G473V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCTGGCTGCCTGTGCGCTG	0.617																																							uc003jfa.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1417-1419)GGC>GTC		catenin (cadherin-associated protein), delta 2							35.0	40.0	38.0					5																	11346694		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346694C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1418G>T	5.37:g.11346694C>A	ENSP00000307134:p.Gly473Val					CTNND2_uc010itt.2_Missense_Mutation_p.G382V|CTNND2_uc011cmy.1_Missense_Mutation_p.G136V|CTNND2_uc011cmz.1_Missense_Mutation_p.G40V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G40V	p.G473V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1563	-			473					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1418G>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896614	0.72639	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79247	-1.02;-1.08;-1.02;-1.25;-1.14	5.79	5.79	0.91817	.	0.335592	0.23393	N	0.048664	T	0.71736	0.3375	L	0.46157	1.445	0.80722	D	1	B;B;P	0.35077	0.335;0.164;0.483	B;B;B	0.24394	0.053;0.024;0.051	T	0.70461	-0.4865	10	0.38643	T	0.18	-23.3541	20.0943	0.97832	0.0:1.0:0.0:0.0	.	136;40;473	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	473;473;382;40;136	ENSP00000307134:G473V;ENSP00000352661:G473V;ENSP00000426510:G382V;ENSP00000391155:G40V;ENSP00000426887:G136V	ENSP00000307134:G473V	G	-	2	0	CTNND2	11399694	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.687000	0.68219	2.758000	0.94735	0.579000	0.79373	GGC		0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		11	38	1	0	6.40141e-05	0.000978	7.06904e-05	11	38				
CDH12	1010	broad.mit.edu	37	5	21765146	21765146	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:21765146G>A	ENST00000382254.1	-	12	2542	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.P486S|CDH12_ENST00000522262.1_Missense_Mutation_p.P446S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	486	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.P486S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCTGGAGGAAATTCATTT	0.338										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1456-1458)CCT>TCT		cadherin 12, type 2 preproprotein							109.0	111.0	110.0					5																	21765146		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21765146G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1456C>T	5.37:g.21765146G>A	ENSP00000371689:p.Pro486Ser	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.P446S|CDH12_uc003jgk.2_Missense_Mutation_p.P486S|uc003jgj.2_Intron	p.P486S	NM_004061	NP_004052	P55289	CAD12_HUMAN			9	1914	-			486			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1456C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894598	0.72639	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.59906	0.23;0.23;0.23	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	L	0.33137	0.985	0.80722	D	1	P;D	0.89917	0.813;1.0	P;D	0.83275	0.573;0.996	T	0.70952	-0.4732	10	0.66056	D	0.02	.	19.6743	0.95924	0.0:0.0:1.0:0.0	.	446;486	B7Z2U6;P55289	.;CAD12_HUMAN	S	486;486;446	ENSP00000423577:P486S;ENSP00000371689:P486S;ENSP00000428786:P446S	ENSP00000371689:P486S	P	-	1	0	CDH12	21800903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.797000	0.55514	2.733000	0.93635	0.637000	0.83480	CCT		0.338	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		14	319	0	0	0	0.00499	0	14	319				
CDH6	1004	broad.mit.edu	37	5	31297485	31297485	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:31297485C>G	ENST00000265071.2	+	4	878	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q150E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	205	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q205E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTACAGGGACAGCCCTATTT	0.373																																							uc003jhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(613-615)CAG>GAG		cadherin 6, type 2 preproprotein							132.0	122.0	125.0					5																	31297485		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31297485C>G	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.613C>G	5.37:g.31297485C>G	ENSP00000265071:p.Gln205Glu					CDH6_uc003jhd.1_Missense_Mutation_p.Q205E	p.Q205E	NM_004932	NP_004923	P55285	CADH6_HUMAN			4	939	+			205			Extracellular (Potential).|Cadherin 2.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.613C>G	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427534	0.62733	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.47528	0.84;0.84	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	N	0.04355	-0.22	0.80722	D	1	D;P	0.55385	0.971;0.922	P;P	0.57204	0.815;0.672	T	0.53085	-0.8488	10	0.40728	T	0.16	.	19.7157	0.96119	0.0:1.0:0.0:0.0	.	205;205	P55285;P55285-2	CADH6_HUMAN;.	E	150;205	ENSP00000424843:Q150E;ENSP00000265071:Q205E	ENSP00000265071:Q205E	Q	+	1	0	CDH6	31333242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.749000	0.94314	0.655000	0.94253	CAG		0.373	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		20	311	0	0	0	0.008871	0	20	311				
ADAMTS12	81792	broad.mit.edu	37	5	33631016	33631016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:33631016G>A	ENST00000504830.1	-	13	2226	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	631	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H631Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACAAGGATGTGCTGAAGGG	0.488										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1891-1893)CAT>TAT		ADAM metallopeptidase with thrombospondin type 1							86.0	87.0	87.0					5																	33631016		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33631016G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1891C>T	5.37:g.33631016G>A	ENSP00000422554:p.His631Tyr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.H631Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			13	2054	-			631			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1891C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	9.926	1.213559	0.22289	.	.	ENSG00000151388	ENST00000504830	T	0.68025	-0.3	5.45	4.39	0.52855	.	0.459573	0.25506	N	0.030219	T	0.48370	0.1496	N	0.24115	0.695	0.24898	N	0.992121	B	0.02656	0.0	B	0.06405	0.002	T	0.27839	-1.0062	10	0.40728	T	0.16	.	7.4535	0.27252	0.0929:0.0:0.6292:0.2779	.	631	P58397	ATS12_HUMAN	Y	631	ENSP00000422554:H631Y	ENSP00000422554:H631Y	H	-	1	0	ADAMTS12	33666773	0.977000	0.34250	0.996000	0.52242	0.891000	0.51852	1.856000	0.39389	2.559000	0.86315	0.650000	0.86243	CAT		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		15	451	0	0	0	0.008871	0	15	451				
AGXT2	64902	broad.mit.edu	37	5	34998886	34998886	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:34998886C>G	ENST00000231420.6	-	14	1683	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	495					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.D495H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	ACTGCAAAATCAACTTCTGGT	0.358																																							uc003jjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1483-1485)GAT>CAT		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						201.0	179.0	186.0					5																	34998886		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:34998886C>G	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1483G>C	5.37:g.34998886C>G	ENSP00000231420:p.Asp495His					AGXT2_uc003jje.1_Missense_Mutation_p.D148H|AGXT2_uc011com.1_Missense_Mutation_p.D420H	p.D495H	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	14	1562	-	all_lung(31;4.52e-05)		495					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.1483G>C	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873696	0.51695	.	.	ENSG00000113492	ENST00000231420	T	0.25414	1.8	5.56	3.78	0.43462	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.240104	0.48286	N	0.000192	T	0.37156	0.0993	M	0.91561	3.22	0.50467	D	0.999878	B;B	0.23735	0.014;0.09	B;B	0.25405	0.02;0.06	T	0.29761	-1.0001	10	0.72032	D	0.01	-2.349	8.698	0.34307	0.0:0.7673:0.1517:0.081	.	420;495	E9PDL7;Q9BYV1	.;AGT2_HUMAN	H	495	ENSP00000231420:D495H	ENSP00000231420:D495H	D	-	1	0	AGXT2	35034643	0.967000	0.33354	0.950000	0.38849	0.570000	0.35934	2.251000	0.43187	0.711000	0.32018	0.557000	0.71058	GAT		0.358	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		12	644	0	0	0	0.00499	0	12	644				
SPEF2	79925	broad.mit.edu	37	5	35691149	35691149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35691149G>T	ENST00000356031.3	+	11	1689	c.1535G>T	c.(1534-1536)gGa>gTa	p.G512V	SPEF2_ENST00000440995.2_Missense_Mutation_p.G512V|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.G512V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	512					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.G512V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACATGGTTGGAGAGTGGGCC	0.338																																							uc003jjo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1534-1536)GGA>GTA		KPL2 protein isoform 1							83.0	76.0	78.0					5																	35691149		1839	4077	5916	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691149G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1535G>T	5.37:g.35691149G>T	ENSP00000348314:p.Gly512Val					SPEF2_uc003jjq.3_Missense_Mutation_p.G512V|SPEF2_uc003jjp.1_Missense_Mutation_p.G3V	p.G512V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1646	+	all_lung(31;7.56e-05)		512					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1535G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468550	0.63625	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.49139	2.39;2.39;2.39;0.79	5.6	4.73	0.59995	.	0.189280	0.45126	D	0.000388	T	0.66046	0.2750	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.989;0.975	T	0.68926	-0.5280	10	0.87932	D	0	.	9.3023	0.37853	0.1555:0.0:0.8445:0.0	.	512;512;512	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	512;512;512;23	ENSP00000348314:G512V;ENSP00000421593:G512V;ENSP00000412125:G512V;ENSP00000421744:G23V	ENSP00000348314:G512V	G	+	2	0	SPEF2	35726906	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.665000	0.54532	2.628000	0.89032	0.585000	0.79938	GGA		0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		14	59	1	0	1.5739e-10	0.004007	1.92941e-10	14	59				
SPEF2	79925	broad.mit.edu	37	5	35779450	35779450	+	Splice_Site	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35779450T>G	ENST00000356031.3	+	30	4601		c.e30+2		SPEF2_ENST00000303129.4_Splice_Site|SPEF2_ENST00000440995.2_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTAAAGGTAGGAAAAATA	0.388																																							uc003jjo.2		NA																	1	Unknown(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.e30+2		KPL2 protein isoform 1							52.0	47.0	48.0					5																	35779450		1854	4104	5958	SO:0001630	splice_region_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35779450T>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4447+2T>G	5.37:g.35779450T>G						SPEF2_uc003jjp.1_Splice_Site_p.G969_splice|SPEF2_uc003jjr.2_Splice_Site	p.G1483_splice	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		30	4558	+	all_lung(31;7.56e-05)							Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Splice_Site	SNP	ENST00000356031.3	37	c.4447_splice	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464589	0.43736	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2382	0.65941	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPEF2	35815207	1.000000	0.71417	0.997000	0.53966	0.502000	0.33828	4.694000	0.61760	2.367000	0.80283	0.528000	0.53228	.		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Intron	10	207	0	0	0	0.006214	0	10	207				
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35793323G>T	ENST00000356031.3	+	32	4771	c.4617G>T	c.(4615-4617)ctG>ctT	p.L1539L	SPEF2_ENST00000303129.4_Silent_p.L336L|SPEF2_ENST00000440995.2_Silent_p.L1534L|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1539					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.L1539L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGTTCCTGTTAGTAACCT	0.448																																							uc003jjo.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(4615-4617)CTG>CTT		KPL2 protein isoform 1							107.0	101.0	102.0					5																	35793323		1919	4135	6054	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35793323G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4617G>T	5.37:g.35793323G>T						SPEF2_uc003jjp.1_Silent_p.L1025L|SPEF2_uc003jjr.2_Silent_p.L594L	p.L1539L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		32	4728	+	all_lung(31;7.56e-05)		1539					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.4617G>T	CCDS43309.1																																																																																				0.448	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		91	396	1	0	1.62402e-62	0.00361	2.97279e-62	91	396				
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:37815930C>A	ENST00000326524.2	-	3	658	c.459G>T	c.(457-459)gaG>gaT	p.E153D	GDNF_ENST00000381826.4_Missense_Mutation_p.E144D|GDNF_ENST00000344622.4_Missense_Mutation_p.E127D|GDNF_ENST00000515058.1_Missense_Mutation_p.E127D|GDNF_ENST00000427982.1_Missense_Mutation_p.E170D	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E170D(2)|p.E153D(2)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTACGTTGTCTCAGCTGCAT	0.443																																							uc011cpi.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(457-459)GAG>GAT		glial cell derived neurotrophic factor isoform 1							119.0	117.0	118.0					5																	37815930		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815930C>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.459G>T	5.37:g.37815930C>A	ENSP00000317145:p.Glu153Asp					GDNF_uc011cpc.1_Missense_Mutation_p.E75D|GDNF_uc011cpd.1_Missense_Mutation_p.E101D|GDNF_uc011cpe.1_Missense_Mutation_p.E127D|GDNF_uc011cpf.1_Missense_Mutation_p.E127D|GDNF_uc011cpg.1_Missense_Mutation_p.E170D|GDNF_uc011cph.1_Missense_Mutation_p.E144D	p.E153D	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	659	-	all_lung(31;0.00118)		153					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.459G>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503300	0.44558	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.76	4.89	0.63831	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	L	0.46157	1.445	0.58432	D	0.999996	B;P;B;P	0.40602	0.22;0.723;0.379;0.572	B;B;B;B	0.34180	0.083;0.167;0.133;0.177	T	0.72337	-0.4324	10	0.27082	T	0.32	-8.0905	11.8506	0.52410	0.0:0.8598:0.0:0.1402	.	153;144;170;127	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	D	153;127;127;170;144	ENSP00000317145:E153D;ENSP00000339703:E127D;ENSP00000425928:E127D;ENSP00000409007:E170D;ENSP00000371248:E144D	ENSP00000317145:E153D	E	-	3	2	GDNF	37851687	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	3.836000	0.55813	1.459000	0.47892	0.655000	0.94253	GAG		0.443	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		130	327	1	0	7.83929e-65	0.00361	1.44478e-64	130	327				
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:38947422C>A	ENST00000357387.3	-	32	4288	c.4258G>T	c.(4258-4260)Ggt>Tgt	p.G1420C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1444C	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.G1420C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATCTGAACCCCCATATGTG	0.383																																							uc003jlp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(4258-4260)GGT>TGT		rapamycin-insensitive companion of mTOR							157.0	145.0	149.0					5																	38947422		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38947422C>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4258G>T	5.37:g.38947422C>A	ENSP00000349959:p.Gly1420Cys					RICTOR_uc003jlo.2_Missense_Mutation_p.G1444C|RICTOR_uc010ivf.2_Missense_Mutation_p.G1135C	p.G1420C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			32	4282	-	all_lung(31;0.000396)		1420						Missense_Mutation	SNP	ENST00000357387.3	37	c.4258G>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115113	0.37339	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.44482	0.92;0.99	5.84	2.41	0.29592	.	0.156820	0.64402	N	0.000002	T	0.14013	0.0339	N	0.02011	-0.69	0.35186	D	0.772919	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07790	-1.0754	10	0.72032	D	0.01	-1.1223	0.8989	0.01269	0.1973:0.1217:0.2041:0.4769	.	1420;1444	Q6R327;Q6R327-3	RICTR_HUMAN;.	C	1420;1444	ENSP00000349959:G1420C;ENSP00000296782:G1444C	ENSP00000296782:G1444C	G	-	1	0	RICTOR	38983179	0.986000	0.35501	0.703000	0.30354	0.955000	0.61496	0.724000	0.25954	0.197000	0.20387	0.655000	0.94253	GGT		0.383	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		64	434	1	0	3.56499e-28	0.00361	5.54782e-28	64	434				
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:39021164C>A	ENST00000357387.3	-	3	202	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G58C	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.G58C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCAGATGGCCTAGCTTTCTC	0.328																																							uc003jlp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(172-174)GGC>TGC		rapamycin-insensitive companion of mTOR							133.0	137.0	135.0					5																	39021164		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:39021164C>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.172G>T	5.37:g.39021164C>A	ENSP00000349959:p.Gly58Cys					RICTOR_uc003jlo.2_Missense_Mutation_p.G58C|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Missense_Mutation_p.G42C|RICTOR_uc011cpk.1_Missense_Mutation_p.G58C	p.G58C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			3	196	-	all_lung(31;0.000396)		58						Missense_Mutation	SNP	ENST00000357387.3	37	c.172G>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468516	0.84533	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T	0.47869	0.83;0.83	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.58101	1.795	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.831;1.0	D;D;P;D	0.97110	0.999;0.999;0.504;1.0	T	0.68565	-0.5375	10	0.87932	D	0	-8.643	18.2788	0.90092	0.0:1.0:0.0:0.0	.	58;58;58;58	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	C	58;58;42	ENSP00000349959:G58C;ENSP00000296782:G58C	ENSP00000296782:G58C	G	-	1	0	RICTOR	39056921	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.607000	0.74163	2.702000	0.92279	0.591000	0.81541	GGC		0.328	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		63	480	1	0	1.45978e-39	0.00361	2.43673e-39	63	480				
C7	730	broad.mit.edu	37	5	40964907	40964907	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:40964907T>A	ENST00000313164.9	+	14	2173	c.1814T>A	c.(1813-1815)cTt>cAt	p.L605H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	605	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.L605H(1)					Ovarian(839;0.0112)				GGATACTCTCTTATTGGAAAC	0.393																																							uc003jmh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1813-1815)CTT>CAT		complement component 7 precursor							158.0	157.0	158.0					5																	40964907		1952	4137	6089	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40964907T>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1814T>A	5.37:g.40964907T>A	ENSP00000322061:p.Leu605His					C7_uc011cpn.1_RNA	p.L605H	NM_000587	NP_000578	P10643	CO7_HUMAN			14	1928	+		Ovarian(839;0.0112)	605			Sushi 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1814T>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522759	0.85600	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.70986	-0.53	6.04	6.04	0.98038	Complement control module (2);Sushi/SCR/CCP (3);	0.071428	0.64402	D	0.000020	D	0.88429	0.6434	M	0.93328	3.405	0.53005	D	0.999968	D	0.89917	1.0	D	0.85130	0.997	D	0.91226	0.5010	10	0.87932	D	0	-23.7538	16.5885	0.84745	0.0:0.0:0.0:1.0	.	605	P10643	CO7_HUMAN	H	605;445	ENSP00000322061:L605H	ENSP00000322061:L605H	L	+	2	0	C7	41000664	1.000000	0.71417	0.954000	0.39281	0.994000	0.84299	6.346000	0.72999	2.317000	0.78254	0.460000	0.39030	CTT		0.393	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			38	800	0	0	0	0.00361	0	38	800				
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:50091127G>A	ENST00000281631.5	+	12	1462	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S435N|PARP8_ENST00000505697.2_Missense_Mutation_p.S435N|PARP8_ENST00000505554.1_Missense_Mutation_p.S414N|PARP8_ENST00000503750.2_Missense_Mutation_p.S435N|PARP8_ENST00000514342.2_Missense_Mutation_p.S188N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S435N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTACTCCAGTGCCCCCAAG	0.443																																							uc003jon.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(1)|ovary(1)	5						c.(1303-1305)AGT>AAT		poly (ADP-ribose) polymerase family, member 8							84.0	86.0	86.0					5																	50091127		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091127G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1304G>A	5.37:g.50091127G>A	ENSP00000281631:p.Ser435Asn					PARP8_uc011cpz.1_Missense_Mutation_p.S327N|PARP8_uc003joo.2_Missense_Mutation_p.S435N|PARP8_uc003jop.2_Missense_Mutation_p.S435N	p.S435N	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			13	1486	+		Lung NSC(810;0.0305)|Breast(144;0.222)	435					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1304G>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172442	0.21704	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.49	4.62	0.57501	.	0.155671	0.56097	D	0.000039	T	0.36826	0.0981	L	0.29908	0.895	0.33552	D	0.596244	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43294	-0.9400	8	.	.	.	-5.9194	8.933	0.35682	0.2371:0.0:0.7629:0.0	.	327;435;435	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	N	435;435;188;435;435;414;188;188	.	.	S	+	2	0	PARP8	50126884	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	3.506000	0.53364	1.435000	0.47434	-0.136000	0.14681	AGT		0.443	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		30	160	0	0	0	0.008361	0	30	160				
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:58120870C>A	ENST00000282878.4	+	4	546	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.T126N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGTCAACTCAAATCAAA	0.418																																							uc003jrp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(376-378)ACT>AAT		RAB3C, member RAS oncogene family							115.0	103.0	107.0					5																	58120870		2203	4300	6503	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:58120870C>A	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.377C>A	5.37:g.58120870C>A	ENSP00000282878:p.Thr126Asn						p.T126N	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	4	474	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	126						Missense_Mutation	SNP	ENST00000282878.4	37	c.377C>A	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880304	0.91740	.	.	ENSG00000152932	ENST00000282878	T	0.76578	-1.03	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000004	T	0.75110	0.3805	N	0.03930	-0.32	0.80722	D	1	D	0.55800	0.973	D	0.64237	0.923	T	0.76326	-0.3000	10	0.27082	T	0.32	-16.2758	20.8598	0.99761	0.0:1.0:0.0:0.0	.	126	Q96E17	RAB3C_HUMAN	N	126	ENSP00000282878:T126N	ENSP00000282878:T126N	T	+	2	0	RAB3C	58156627	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.790000	0.85794	2.937000	0.99478	0.650000	0.86243	ACT		0.418	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		68	405	1	0	1.7458e-18	0.00361	2.46789e-18	68	405				
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:70797393A>T	ENST00000358731.4	+	14	2224	c.1961A>T	c.(1960-1962)cAc>cTc	p.H654L	BDP1_ENST00000380675.2_De_novo_Start_OutOfFrame	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	654					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H654L(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCACAGAACCACGTGGAAAAA	0.343																																							uc003kbp.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1960-1962)CAC>CTC		transcription factor-like nuclear regulator							88.0	84.0	86.0					5																	70797393		1816	4074	5890	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70797393A>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1961A>T	5.37:g.70797393A>T	ENSP00000351575:p.His654Leu					BDP1_uc003kbn.1_Missense_Mutation_p.H654L|BDP1_uc003kbo.2_Missense_Mutation_p.H654L	p.H654L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	14	2224	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	654					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1961A>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	4.134	0.023177	0.08006	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.09350	2.99	4.44	0.252	0.15545	.	0.663390	0.14541	N	0.313295	T	0.13543	0.0328	L	0.47716	1.5	0.19575	N	0.999969	B;D;B	0.59357	0.046;0.985;0.079	B;P;B	0.55391	0.013;0.775;0.046	T	0.20240	-1.0281	10	0.20046	T	0.44	.	4.4381	0.11561	0.4668:0.1819:0.0:0.3512	.	654;654;654	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	L	654;654;234;654	ENSP00000351575:H654L	ENSP00000351575:H654L	H	+	2	0	BDP1	70833149	0.000000	0.05858	0.012000	0.15200	0.018000	0.09664	0.113000	0.15499	0.286000	0.22352	0.482000	0.46254	CAC		0.343	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		27	117	0	0	0	0.002445	0	27	117				
ARHGEF28	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:73165952A>T	ENST00000426542.2	+	20	2504	c.2484A>T	c.(2482-2484)gcA>gcT	p.A828A	ARHGEF28_ENST00000545377.1_Silent_p.A828A|ARHGEF28_ENST00000296794.6_Silent_p.A828A|ARHGEF28_ENST00000513042.2_Silent_p.A828A|ARHGEF28_ENST00000296799.4_Silent_p.A515A|ARHGEF28_ENST00000437974.1_Silent_p.A828A|ARHGEF28_ENST00000287898.5_Silent_p.A828A			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	828					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.A828A(4)									AGTTTGAAGCAGAATCTTGGA	0.408																																							uc011csq.1		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(2482-2484)GCA>GCT		Rho-guanine nucleotide exchange factor							177.0	169.0	171.0					5																	73165952		1918	4132	6050	SO:0001819	synonymous_variant	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73165952A>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2484A>T	5.37:g.73165952A>T						RGNEF_uc003kcx.2_Silent_p.A828A|RGNEF_uc010izf.2_Silent_p.A828A|RGNEF_uc011csr.1_Silent_p.A515A	p.A828A	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	20	2495	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	828					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	c.2484A>T	CCDS54870.1																																																																																				0.408	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			94	309	0	0	0	0.00361	0	94	309				
ARHGEF28	64283	broad.mit.edu	37	5	73189085	73189085	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:73189085C>T	ENST00000426542.2	+	27	3650	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	ARHGEF28_ENST00000545377.1_Silent_p.A1210A|ARHGEF28_ENST00000296794.6_Silent_p.A1210A|ARHGEF28_ENST00000513042.2_Silent_p.A1210A|ARHGEF28_ENST00000296799.4_Silent_p.A897A|ARHGEF28_ENST00000512883.1_Silent_p.A174A|ARHGEF28_ENST00000437974.1_Silent_p.A1210A|ARHGEF28_ENST00000287898.5_Silent_p.A1210A			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1210					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.A174A(1)|p.A1210A(1)									AAGCTGAAGCCAGAGTGGCCA	0.473																																							uc011csq.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(3628-3630)GCC>GCT		Rho-guanine nucleotide exchange factor							78.0	74.0	75.0					5																	73189085		1968	4139	6107	SO:0001819	synonymous_variant	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73189085C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3630C>T	5.37:g.73189085C>T						RGNEF_uc003kcx.2_Silent_p.A1210A|RGNEF_uc010izf.2_Silent_p.A1210A|RGNEF_uc011csr.1_Silent_p.A897A|RGNEF_uc003kcz.3_Silent_p.A174A|RGNEF_uc003kda.3_Silent_p.A174A	p.A1210A	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	27	3641	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	1210					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	c.3630C>T	CCDS54870.1																																																																																				0.473	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			7	13	0	0	0	0.006214	0	7	13				
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	G	T	rs369302838	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:75757446G>T	ENST00000274364.6	+	2	395	c.98G>T	c.(97-99)cGg>cTg	p.R33L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.R33L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGAGGAGGCGGCAGAACATT	0.423																																							uc003kek.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(1)	7						c.(97-99)CGG>CTG		IQ motif containing GTPase activating protein 2							145.0	120.0	128.0					5																	75757446		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75757446G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.98G>T	5.37:g.75757446G>T	ENSP00000274364:p.Arg33Leu						p.R33L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	2	320	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	33					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.98G>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237308	0.58886	.	.	ENSG00000145703	ENST00000274364;ENST00000514350	T;T	0.44482	0.92;0.92	4.05	4.05	0.47172	Calponin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.28764	0.0713	N	0.19112	0.55	0.80722	D	1	B	0.28760	0.221	B	0.18561	0.022	T	0.21348	-1.0248	10	0.62326	D	0.03	-12.5875	15.5184	0.75842	0.0:0.0:1.0:0.0	.	33	Q13576	IQGA2_HUMAN	L	33;6	ENSP00000274364:R33L;ENSP00000423672:R6L	ENSP00000274364:R33L	R	+	2	0	IQGAP2	75793202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.081000	0.71309	2.267000	0.75376	0.491000	0.48974	CGG		0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		64	247	1	0	1.36236e-49	0.00361	2.37698e-49	64	247				
PDE8B	8622	broad.mit.edu	37	5	76607850	76607850	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:76607850C>T	ENST00000264917.5	+	2	416	c.371C>T	c.(370-372)cCc>cTc	p.P124L	PDE8B_ENST00000340978.3_Missense_Mutation_p.P124L|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000346042.3_Missense_Mutation_p.P124L|PDE8B_ENST00000333194.4_Missense_Mutation_p.P124L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	124					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.P124L(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CGCATCGGGCCCATGAGACTG	0.428																																							uc003kfa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CCC>CTC		phosphodiesterase 8B isoform 1							199.0	192.0	194.0					5																	76607850		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76607850C>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.371C>T	5.37:g.76607850C>T	ENSP00000264917:p.Pro124Leu					PDE8B_uc003kfb.2_Intron|PDE8B_uc003kfc.2_Missense_Mutation_p.P124L|PDE8B_uc003kfd.2_Missense_Mutation_p.P124L|PDE8B_uc003kfe.2_Missense_Mutation_p.P124L	p.P124L	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	2	416	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	124					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.371C>T	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140874	0.77775	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000333194	T;T;T;T	0.75704	-0.96;-0.93;-0.87;-0.86	5.31	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.83275	0.989;0.991;0.996;0.98	T	0.80165	-0.1496	10	0.87932	D	0	.	10.2522	0.43375	0.0:0.9106:0.0:0.0894	.	124;124;124;124	O95263-2;O95263-6;O95263-3;O95263	.;.;.;PDE8B_HUMAN	L	124	ENSP00000345446:P124L;ENSP00000330428:P124L;ENSP00000264917:P124L;ENSP00000331336:P124L	ENSP00000264917:P124L	P	+	2	0	PDE8B	76643606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.124000	0.57924	1.623000	0.50342	0.650000	0.86243	CCC		0.428	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		20	673	0	0	0	0.003954	0	20	673				
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:78610543G>T	ENST00000396137.4	+	9	2990	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	843					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R489I(2)|p.R843I(2)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATCTGCCTAGAAAGGAGGGG	0.592																																							uc003kfx.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(2527-2529)AGA>ATA		junction-mediating and regulatory protein							38.0	39.0	39.0					5																	78610543		1985	4163	6148	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610543G>T	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2528G>T	5.37:g.78610543G>T	ENSP00000379441:p.Arg843Ile					JMY_uc003kfw.1_Missense_Mutation_p.R489I	p.R843I	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	3048	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	843					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.2528G>T	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163511	0.38217	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.34275	1.37	4.91	1.53	0.23141	.	0.704718	0.14725	N	0.302094	T	0.23133	0.0559	L	0.40543	1.245	0.09310	N	0.999998	P	0.36315	0.547	B	0.37888	0.26	T	0.11494	-1.0585	10	0.30854	T	0.27	.	0.1679	0.00110	0.3173:0.2118:0.2568:0.2141	.	843	Q8N9B5	JMY_HUMAN	I	832;843	ENSP00000379441:R843I	ENSP00000282259:R832I	R	+	2	0	JMY	78646299	0.008000	0.16893	0.001000	0.08648	0.987000	0.75469	1.259000	0.32956	0.446000	0.26666	0.650000	0.86243	AGA		0.592	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		22	118	1	0	1.32181e-22	0.007291	1.95555e-22	22	118				
RASGRF2	5924	broad.mit.edu	37	5	80408586	80408586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:80408586C>A	ENST00000265080.4	+	14	2063	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	666	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L666M(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAACACCTTTCTGCACACCTA	0.512																																							uc003kha.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1996-1998)CTG>ATG		Ras protein-specific guanine							205.0	196.0	199.0					5																	80408586		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408586C>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1996C>A	5.37:g.80408586C>A	ENSP00000265080:p.Leu666Met					RASGRF2_uc011ctn.1_RNA	p.L666M	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1996	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	666			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1996C>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318273	0.81469	.	.	ENSG00000113319	ENST00000265080	T	0.68903	-0.36	5.79	4.92	0.64577	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.82130	0.4970	M	0.80746	2.51	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.84951	0.0871	10	0.87932	D	0	.	14.5311	0.67926	0.0:0.9293:0.0:0.0707	.	666	O14827	RGRF2_HUMAN	M	666	ENSP00000265080:L666M	ENSP00000265080:L666M	L	+	1	2	RASGRF2	80444342	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.758000	0.85224	1.473000	0.48159	-0.259000	0.10710	CTG		0.512	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		178	620	1	0	5.16896e-63	0.00361	9.47789e-63	178	620				
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:80408635T>C	ENST00000265080.4	+	14	2112	c.2045T>C	c.(2044-2046)cTc>cCc	p.L682P	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	682	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L682P(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGGGAAACTCTCCGACATA	0.493																																							uc003kha.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(2044-2046)CTC>CCC		Ras protein-specific guanine							134.0	128.0	130.0					5																	80408635		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408635T>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2045T>C	5.37:g.80408635T>C	ENSP00000265080:p.Leu682Pro					RASGRF2_uc011ctn.1_RNA	p.L682P	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	2045	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	682			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2045T>C	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978467	0.53720	.	.	ENSG00000113319	ENST00000265080	T	0.79454	-1.27	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90002	0.4115	10	0.87932	D	0	.	15.8352	0.78793	0.0:0.0:0.0:1.0	.	682	O14827	RGRF2_HUMAN	P	682	ENSP00000265080:L682P	ENSP00000265080:L682P	L	+	2	0	RASGRF2	80444391	1.000000	0.71417	0.278000	0.24718	0.059000	0.15707	7.979000	0.88103	2.221000	0.72209	0.456000	0.33151	CTC		0.493	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		109	358	0	0	0	0.00361	0	109	358				
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:82837202G>C	ENST00000265077.3	+	8	8945	c.8380G>C	c.(8380-8382)Gag>Cag	p.E2794Q	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1807Q|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2794	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E2794Q(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAGTGTAACAGAGGTGCCTGA	0.433																																							uc003kii.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8380-8382)GAG>CAG		versican isoform 1 precursor							127.0	120.0	122.0					5																	82837202		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837202G>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8380G>C	5.37:g.82837202G>C	ENSP00000265077:p.Glu2794Gln					VCAN_uc003kij.3_Missense_Mutation_p.E1807Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1458Q	p.E2794Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8736	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2794			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8380G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883689	0.51908	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.51071	0.72;0.72	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000004	T	0.49898	0.1584	M	0.71581	2.175	0.80722	D	1	P;P	0.40211	0.707;0.583	B;B	0.38655	0.278;0.223	T	0.52328	-0.8590	10	0.39692	T	0.17	.	15.8069	0.78520	0.0:0.1351:0.8649:0.0	.	1807;2794	P13611-2;P13611	.;CSPG2_HUMAN	Q	2794;1807	ENSP00000265077:E2794Q;ENSP00000340062:E1807Q	ENSP00000265077:E2794Q	E	+	1	0	VCAN	82872958	0.934000	0.31675	0.989000	0.46669	0.369000	0.29798	2.060000	0.41394	1.623000	0.50342	0.655000	0.94253	GAG		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		25	358	0	0	0	0.002096	0	25	358				
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:83239283C>G	ENST00000296591.5	-	11	1816	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	EDIL3_ENST00000380138.3_Missense_Mutation_p.R456S	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	466	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R466S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTGATCCTCCCGTACC	0.488																																							uc003kio.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1396-1398)AGG>AGC		EGF-like repeats and discoidin I-like							146.0	133.0	138.0					5																	83239283		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83239283C>G	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1398G>C	5.37:g.83239283C>G	ENSP00000296591:p.Arg466Ser					EDIL3_uc003kip.1_Missense_Mutation_p.R456S	p.R466S	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	11	1817	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	466			F5/8 type C 2.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.1398G>C	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859042	0.32884	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98901	-5.22;-5.22	5.52	3.67	0.42095	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.62209	1.925	0.58432	D	0.999997	D;D	0.64830	0.993;0.994	D;P	0.65443	0.935;0.876	D	0.96361	0.9266	10	0.28530	T	0.3	-19.1231	6.3889	0.21576	0.0:0.6541:0.1284:0.2175	.	456;466	O43854-2;O43854	.;EDIL3_HUMAN	S	466;456	ENSP00000296591:R466S;ENSP00000369483:R456S	ENSP00000296591:R466S	R	-	3	2	EDIL3	83275039	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	0.853000	0.27777	0.645000	0.30675	-0.982000	0.02568	AGG		0.488	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		50	193	0	0	0	0.00361	0	50	193				
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:87494880C>A	ENST00000296595.6	-	10	1126	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMEM161B_ENST00000514135.1_Silent_p.L334L|TMEM161B_ENST00000512429.1_Silent_p.L323L|TMEM161B_ENST00000515293.1_5'Flank|TMEM161B_ENST00000511218.1_Silent_p.L125L|TMEM161B_ENST00000506536.1_Silent_p.L152L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral component of membrane (GO:0016021)		p.L334L(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATAAGCTTGCAGGTGACTAC	0.423																																							uc003kjc.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(1000-1002)CTG>CTT		transmembrane protein 161B							55.0	53.0	54.0					5																	87494880		2203	4299	6502	SO:0001819	synonymous_variant	153396					integral to membrane		g.chr5:87494880C>A	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1002G>T	5.37:g.87494880C>A						TMEM161B_uc011cty.1_Silent_p.L323L|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Silent_p.L125L	p.L334L	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	10	1127	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	334					Q5CZH7|Q6UWQ6	Silent	SNP	ENST00000296595.6	37	c.1002G>T	CCDS4065.1																																																																																				0.423	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		13	34	1	0	4.7546e-09	0.004007	5.69287e-09	13	34				
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:88057031C>A	ENST00000437473.2	-	4	790	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000504921.2_Missense_Mutation_p.D125Y|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125Y	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453										HNSCC(66;0.2)																													uc003kjj.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(373-375)GAT>TAT		myocyte enhancer factor 2C isoform 1							173.0	169.0	170.0					5																	88057031		1901	4120	6021	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88057031C>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.373G>T	5.37:g.88057031C>A	ENSP00000396219:p.Asp125Tyr	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.D125Y|MEF2C_uc003kjk.2_Missense_Mutation_p.D125Y|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron	p.D125Y	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	4	1046	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	125					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.373G>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885294	0.91814	.	.	ENSG00000081189	ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000502983;ENST00000508610	T;T;T;T;T;T;T;D;D	0.88354	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-2.37;-2.29	5.79	5.79	0.91817	Holliday junction regulator protein family C-terminal repeat (1);	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.95176	0.8295	10	0.87932	D	0	.	20.0235	0.97511	0.0:1.0:0.0:0.0	.	125;125	Q06413;Q06413-2	MEF2C_HUMAN;.	Y	125	ENSP00000421925:D125Y;ENSP00000426665:D125Y;ENSP00000396219:D125Y;ENSP00000422390:D125Y;ENSP00000425636:D125Y;ENSP00000423597:D125Y;ENSP00000424606:D125Y;ENSP00000427163:D125Y;ENSP00000426442:D125Y	ENSP00000396219:D125Y	D	-	1	0	MEF2C	88092787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.727000	0.93392	0.563000	0.77884	GAT		0.453	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		53	326	1	0	4.60343e-24	0.00361	6.90514e-24	53	326				
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	G	T	rs568119384		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:89986703G>T	ENST00000405460.2	+	31	6892	c.6796G>T	c.(6796-6798)Ggc>Tgc	p.G2266C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2266	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G2266C(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGACACTCGGCAATGTTAC	0.458																																							uc003kju.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6796-6798)GGC>TGC		G protein-coupled receptor 98 precursor							78.0	75.0	76.0					5																	89986703		1923	4130	6053	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986703G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6796G>T	5.37:g.89986703G>T	ENSP00000384582:p.Gly2266Cys					GPR98_uc003kjt.2_5'UTR	p.G2266C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	31	6892	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2266			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6796G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978321	0.92982	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.33654	1.4	5.9	5.9	0.94986	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75059	-0.3451	10	0.87932	D	0	.	20.3398	0.98759	0.0:0.0:1.0:0.0	.	2266	Q8WXG9	GPR98_HUMAN	C	2266	ENSP00000384582:G2266C	ENSP00000296619:G2266C	G	+	1	0	GPR98	90022459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.783000	0.99037	2.803000	0.96430	0.586000	0.80456	GGC		0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	34	1	0	0.00198382	0.001984	0.0020964	7	34				
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:109117174G>C	ENST00000261483.4	+	9	2504	c.1452G>C	c.(1450-1452)tcG>tcC	p.S484S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.S484S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGGGCCAATCGATGTTCCCTG	0.378																																							uc003kou.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1450-1452)TCG>TCC		mannosidase, alpha, class 2A, member 1							134.0	128.0	130.0					5																	109117174		2202	4300	6502	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109117174G>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1452G>C	5.37:g.109117174G>C							p.S484S	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	9	2415	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	484			Lumenal (Potential).		Q16767	Silent	SNP	ENST00000261483.4	37	c.1452G>C	CCDS34209.1																																																																																				0.378	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			16	94	0	0	0	0.00278	0	16	94				
WDR36	134430	broad.mit.edu	37	5	110440497	110440497	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110440497A>T	ENST00000513710.2	+	9	1180	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	WDR36_ENST00000506538.2_Silent_p.G392G|WDR36_ENST00000505303.1_Silent_p.G336G			Q8NI36	WDR36_HUMAN	WD repeat domain 36	392					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.G392G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACAGAATGGACAGCAGATTC	0.398																																							uc003kpd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1174-1176)GGA>GGT		WD repeat domain 36							185.0	175.0	178.0					5																	110440497		2202	4300	6502	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110440497A>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1176A>T	5.37:g.110440497A>T						WDR36_uc010jbu.2_RNA	p.G392G	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	9	1293	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	392			WD 5.		A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.1176A>T	CCDS4102.1																																																																																				0.398	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		47	488	0	0	0	0.00361	0	47	488				
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110446486G>T	ENST00000513710.2	+	14	1613		c.e14-1		WDR36_ENST00000506538.2_Splice_Site|WDR36_ENST00000505303.1_Splice_Site			Q8NI36	WDR36_HUMAN	WD repeat domain 36						regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.?(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTACCTTACAGCTCACAAGGG	0.373																																							uc003kpd.2		NA																	2	Unknown(2)		lung(2)	ovary(1)|skin(1)	2						c.e14-1		WD repeat domain 36							36.0	39.0	38.0					5																	110446486		2192	4290	6482	SO:0001630	splice_region_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110446486G>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1610-1G>T	5.37:g.110446486G>T						WDR36_uc010jbu.2_Splice_Site	p.A537_splice	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	14	1727	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)						A2RUS4|Q68E02|Q8N1Q2	Splice_Site	SNP	ENST00000513710.2	37	c.1610_splice	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217984	0.39201	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	.	.	.	5.72	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9107	0.70755	0.069:0.0:0.931:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR36	110474385	1.000000	0.71417	0.998000	0.56505	0.365000	0.29674	8.611000	0.90905	1.415000	0.47037	0.650000	0.86243	.		0.373	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	Intron	9	35	1	0	0.000673444	0.008291	0.000722264	9	35				
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110730473C>A	ENST00000282356.4	+	5	850	c.452C>A	c.(451-453)gCa>gAa	p.A151E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A151E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A151E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCCTGGAGGCAGTTGCTGTA	0.408																																							uc011cvj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(451-453)GCA>GAA		calcium/calmodulin-dependent protein kinase IV							128.0	128.0	128.0					5																	110730473		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110730473C>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.452C>A	5.37:g.110730473C>A	ENSP00000282356:p.Ala151Glu					CAMK4_uc003kpf.2_Missense_Mutation_p.A151E|CAMK4_uc010jbv.2_5'UTR	p.A151E	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	6	551	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	151			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.452C>A	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707019	0.89018	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.62639	0.01;0.01	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88366	0.6417	H	0.98996	4.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.92772	0.6233	9	.	.	.	.	18.5036	0.90890	0.0:1.0:0.0:0.0	.	151	Q16566	KCC4_HUMAN	E	151	ENSP00000422634:A151E;ENSP00000282356:A151E	.	A	+	2	0	CAMK4	110758372	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	6.074000	0.71253	2.680000	0.91292	0.467000	0.42956	GCA		0.408	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		77	265	1	0	1.49072e-33	0.00361	2.39225e-33	77	265				
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:120022158G>T	ENST00000407149.2	+	2	878	c.669G>T	c.(667-669)cgG>cgT	p.R223R	PRR16_ENST00000379551.2_Silent_p.R200R|PRR16_ENST00000505123.1_Silent_p.R153R|PRR16_ENST00000446965.1_Silent_p.R153R			Q569H4	LARGN_HUMAN	proline rich 16	223	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.R200R(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTGATACCCGGTATAACATAA	0.512																																							uc003ksq.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(667-669)CGG>CGT		proline rich 16							73.0	73.0	73.0					5																	120022158		2203	4300	6503	SO:0001819	synonymous_variant	51334							g.chr5:120022158G>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.669G>T	5.37:g.120022158G>T						PRR16_uc003ksp.2_Silent_p.R200R|PRR16_uc003ksr.2_Silent_p.R153R	p.R223R	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	832	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	223			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37	c.669G>T																																																																																					0.512	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		35	169	1	0	2.20914e-33	0.002852	3.53463e-33	35	169				
FBN2	2201	broad.mit.edu	37	5	127648343	127648343	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:127648343C>T	ENST00000508053.1	-	43	5836	c.4862G>A	c.(4861-4863)tGc>tAc	p.C1621Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1621Y			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1621Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGGGGGGCATGTCTCACA	0.512																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4861-4863)TGC>TAC		fibrillin 2 precursor							205.0	221.0	215.0					5																	127648343		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648343C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4862G>A	5.37:g.127648343C>T	ENSP00000424571:p.Cys1621Tyr						p.C1621Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5301	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1621			TB 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4862G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491160	0.84962	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99875	-7.4;-7.4	5.41	5.41	0.78517	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000002	D	0.99902	0.9953	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97022	0.9744	10	0.48119	T	0.1	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1621	P35556	FBN2_HUMAN	Y	1621	ENSP00000262464:C1621Y;ENSP00000424571:C1621Y	ENSP00000262464:C1621Y	C	-	2	0	FBN2	127676242	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	7.585000	0.82584	2.826000	0.97356	0.655000	0.94253	TGC		0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		22	799	0	0	0	0.003954	0	22	799				
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:128440942G>A	ENST00000173527.5	+	3	510	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.G165E(2)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AAAGGTCTTGGGAGCACGGTT	0.383																																							uc003kva.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(493-495)GGG>GAG		isochorismatase domain containing 1							94.0	87.0	89.0					5																	128440942		1884	4123	6007	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128440942G>A	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.494G>A	5.37:g.128440942G>A	ENSP00000173527:p.Gly165Glu						p.G165E	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	3	512	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	165					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.494G>A	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653909	0.88056	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.86	4.86	0.63082	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93798	0.7098	8	.	.	.	-16.0065	18.567	0.91120	0.0:0.0:1.0:0.0	.	165	Q96CN7	ISOC1_HUMAN	E	144;156;165;156	.	.	G	+	2	0	ISOC1	128468841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.910000	0.75741	2.709000	0.92574	0.655000	0.94253	GGG		0.383	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		9	34	0	0	0	0.000978	0	9	34				
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:132270357G>A	ENST00000265343.5	-	3	779	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q134*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	134	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q134*(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTCCGCTGGCTACTATGT	0.532																																					Ovarian(126;889 1733 2942 10745 11605)	Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(2)|skin(1)	5						c.(400-402)CAG>TAG		ALL1 fused gene from 5q31							103.0	97.0	99.0					5																	132270357		2203	4300	6503	SO:0001587	stop_gained	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270357G>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.400C>T	5.37:g.132270357G>A	ENSP00000265343:p.Gln134*					AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Nonsense_Mutation_p.Q134*|AFF4_uc003kyf.3_Nonsense_Mutation_p.Q134*	p.Q134*	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	808	-		all_cancers(142;0.145)|Breast(839;0.198)	134			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Nonsense_Mutation	SNP	ENST00000265343.5	37	c.400C>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	38	6.990929	0.97987	.	.	ENSG00000072364	ENST00000265343;ENST00000378595;ENST00000421773	.	.	.	5.59	5.59	0.84812	.	0.338373	0.29451	N	0.012104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7829	17.7798	0.88520	0.0:0.0:1.0:0.0	.	.	.	.	X	134	.	ENSP00000265343:Q134X	Q	-	1	0	AFF4	132298256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.177000	0.71961	2.628000	0.89032	0.655000	0.94253	CAG		0.532	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		41	95	0	0	0	0.007835	0	41	95				
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:137476521C>T	ENST00000254900.5	-	26	3859	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1163	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.R1163H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443																																							uc003lcf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3487-3489)CGC>CAC		bromodomain containing 8 isoform 2							290.0	283.0	285.0					5																	137476521		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137476521C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3488G>A	5.37:g.137476521C>T	ENSP00000254900:p.Arg1163His					BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	p.R1163H	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		26	3543	-			1163			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3488G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185003	0.57909	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.31247	1.5;1.5	5.96	5.09	0.68999	Bromodomain (5);	0.000000	0.50627	D	0.000118	T	0.28499	0.0705	L	0.46741	1.465	0.80722	D	1	B	0.19706	0.038	B	0.20384	0.029	T	0.05533	-1.0879	10	0.51188	T	0.08	-4.4591	11.4172	0.49960	0.0:0.8498:0.0:0.1502	.	1163	Q9H0E9	BRD8_HUMAN	H	1163;269	ENSP00000254900:R1163H;ENSP00000392646:R269H	ENSP00000254900:R1163H	R	-	2	0	BRD8	137504420	0.997000	0.39634	1.000000	0.80357	0.776000	0.43924	2.221000	0.42917	1.507000	0.48752	0.655000	0.94253	CGC		0.443	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		28	729	0	0	0	0.002096	0	28	729				
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140181997C>T	ENST00000522353.2	+	1	1215	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y405Y	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y405Y(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTACTACTCATTGGTGC	0.627																																							uc003lhf.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(6)|skin(2)	8						c.(1213-1215)TAC>TAT		protocadherin alpha 3 isoform 1 precursor							151.0	139.0	143.0					5																	140181997		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181997C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1215C>T	5.37:g.140181997C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.Y405Y	p.Y405Y	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1215	+			405			Cadherin 4.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.1215C>T	CCDS54915.1																																																																																				0.627	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		52	129	0	0	0	0.00361	0	52	129				
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140222743C>A	ENST00000531613.1	+	1	1837	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P613T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P613T(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTGCAGCCAGCTGCAAG	0.687																																							uc003lhs.2		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1837-1839)CCA>ACA		protocadherin alpha 8 isoform 1 precursor							90.0	88.0	89.0					5																	140222743		2198	4269	6467	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222743C>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1837C>A	5.37:g.140222743C>A	ENSP00000434655:p.Pro613Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P613T	p.P613T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1837	+			613			Cadherin 6.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1837C>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	6.267	0.417467	0.11870	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.20332	2.08;2.08	3.45	-0.0232	0.13944	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14313	0.0346	L	0.27053	0.805	0.09310	N	1	B;B	0.31077	0.065;0.307	B;B	0.31337	0.128;0.111	T	0.24835	-1.0149	9	0.52906	T	0.07	.	8.9172	0.35590	0.2329:0.2187:0.5483:0.0	.	613;613	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	613	ENSP00000434655:P613T;ENSP00000367363:P613T	ENSP00000367363:P613T	P	+	1	0	PCDHA8	140202927	0.000000	0.05858	0.380000	0.26093	0.348000	0.29142	-3.518000	0.00444	0.064000	0.16427	0.313000	0.20887	CCA		0.687	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		13	37	1	0	5.01169e-05	0.00499	5.54005e-05	13	37				
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140255192G>T	ENST00000398631.2	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V45V(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGCATCG	0.657																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(133-135)GTG>GTT		protocadherin alpha 12 isoform 1 precursor							41.0	48.0	45.0					5																	140255192		2203	4300	6503	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255192G>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.135G>T	5.37:g.140255192G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.V45V	p.V45V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	262	+			45			Cadherin 1.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.135G>T	CCDS47285.1																																																																																				0.657	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		10	16	1	0	3.35478e-16	0.003163	4.55743e-16	10	16				
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140553818C>A	ENST00000231137.3	+	1	1576	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	468	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632																																							uc003lit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1402-1404)CTG>ATG		protocadherin beta 7 precursor							115.0	114.0	114.0					5																	140553818		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553818C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1402C>A	5.37:g.140553818C>A	ENSP00000231137:p.Leu468Met						p.L468M	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1576	+			468			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1402C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	15.46	2.840735	0.51057	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.51817	0.69	4.44	3.27	0.37495	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.49012	0.1532	L	0.33485	1.01	0.27522	N	0.951355	D	0.64830	0.994	P	0.59357	0.856	T	0.32851	-0.9891	9	0.59425	D	0.04	.	6.4517	0.21908	0.0:0.5529:0.3124:0.1347	.	468	Q9Y5E2	PCDB7_HUMAN	M	468;251	ENSP00000231137:L468M	ENSP00000231137:L468M	L	+	1	2	PCDHB7	140534002	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.103000	0.03329	2.170000	0.68504	0.552000	0.68991	CTG		0.632	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		17	71	1	0	1.12875e-08	0.00632	1.33815e-08	17	71				
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140559208G>A	ENST00000239444.2	+	1	1838	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672																																							uc011dai.1		NA																	3	Substitution - coding silent(3)		lung(2)|urinary_tract(1)	skin(4)	4						c.(1591-1593)CGG>CGA		protocadherin beta 8 precursor							86.0	143.0	123.0					5																	140559208		2203	4300	6503	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559208G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1593G>A	5.37:g.140559208G>A						PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.R531R	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1779	+			531			Cadherin 5.|Extracellular (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.1593G>A	CCDS4250.1																																																																																				0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		4	54	0	0	0	0.001168	0	4	54				
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140712339G>T	ENST00000517417.1	+	1	2088	c.2088G>T	c.(2086-2088)gcG>gcT	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672																																							uc003lji.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|breast(1)|pancreas(1)	3						c.(2086-2088)GCG>GCT		protocadherin gamma subfamily A, 1 isoform 1							74.0	85.0	81.0					5																	140712339		2203	4297	6500	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712339G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2088G>T	5.37:g.140712339G>T						PCDHGA1_uc011dan.1_Silent_p.A696A	p.A696A	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2088	+			696			Helical; (Potential).		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2088G>T	CCDS54922.1																																																																																				0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		24	67	1	0	3.62531e-18	0.004289	5.10473e-18	24	67				
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140773147C>A	ENST00000398604.2	+	1	767	c.767C>A	c.(766-768)cCc>cAc	p.P256H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P256H(2)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACATGCCCCCAGGCACG	0.488																																							uc003lkd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(766-768)CCC>CAC		protocadherin gamma subfamily A, 8 isoform 1							76.0	81.0	79.0					5																	140773147		1953	4152	6105	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140773147C>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.767C>A	5.37:g.140773147C>A	ENSP00000381605:p.Pro256His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.P256H	p.P256H	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1665	+			256			Cadherin 3.|Extracellular (Potential).		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.767C>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	16.62	3.175078	0.57692	.	.	ENSG00000253767	ENST00000398604	T	0.55588	0.51	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.290337	0.18003	U	0.154831	D	0.84179	0.5415	H	0.98487	4.245	0.40950	D	0.984532	D;D	0.76494	0.999;0.996	D;D	0.74023	0.982;0.952	D	0.90399	0.4401	10	0.87932	D	0	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	256;256	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	H	256	ENSP00000381605:P256H	ENSP00000381605:P256H	P	+	2	0	PCDHGA8	140753331	0.000000	0.05858	0.948000	0.38648	0.340000	0.28889	-0.022000	0.12480	2.552000	0.86080	0.655000	0.94253	CCC		0.488	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		20	35	1	0	2.89027e-11	0.002299	3.59619e-11	20	35				
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140783353A>T	ENST00000573521.1	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCT	0.418																																							uc003lkh.1		NA																	0					0						c.(832-834)GCA>GCT		protocadherin gamma subfamily A, 9 isoform 1							70.0	74.0	72.0					5																	140783353		1847	4090	5937	SO:0001819	synonymous_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783353A>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.834A>T	5.37:g.140783353A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.A278A	p.A278A	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	834	+			278			Cadherin 3.|Extracellular (Potential).		A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.834A>T	CCDS58981.1																																																																																				0.418	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		27	66	0	0	0	0.009535	0	27	66				
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140784676G>T	ENST00000573521.1	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	719					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGCACTGGCACTCCTCGC	0.587																																							uc003lkh.1		NA																	0					0						c.(2155-2157)TGG>TGT		protocadherin gamma subfamily A, 9 isoform 1							73.0	80.0	78.0					5																	140784676		2161	4286	6447	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784676G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2157G>T	5.37:g.140784676G>T	ENSP00000460274:p.Trp719Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.W719C	p.W719C	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2157	+			719			Cytoplasmic (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2157G>T	CCDS58981.1																																																																																				0.587	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		19	38	1	0	1.33834e-09	0.007413	1.61138e-09	19	38				
PPP2R2B	5521	broad.mit.edu	37	5	145979967	145979967	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:145979967A>C	ENST00000394413.3	-	7	1417	c.847T>G	c.(847-849)Tcg>Gcg	p.S283A	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S283A|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S289A|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S283A|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S286A|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S341A|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S349A|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S283A|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S272A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.S283A(1)|p.S341A(1)|p.S286A(1)|p.S272A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGAAATCGAAGAGATAATT	0.423																																							uc003loe.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|prostate(1)	2						c.(847-849)TCG>GCG		beta isoform of regulatory subunit B55, protein							107.0	104.0	105.0					5																	145979967		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145979967A>C	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.847T>G	5.37:g.145979967A>C	ENSP00000377935:p.Ser283Ala					PPP2R2B_uc010jgm.2_Missense_Mutation_p.S272A|PPP2R2B_uc003log.3_Missense_Mutation_p.S283A|PPP2R2B_uc003lof.3_Missense_Mutation_p.S283A|PPP2R2B_uc003loi.3_Missense_Mutation_p.S286A|PPP2R2B_uc003loh.3_Missense_Mutation_p.S283A|PPP2R2B_uc003loj.3_Missense_Mutation_p.S263A|PPP2R2B_uc003lok.3_Missense_Mutation_p.S272A|PPP2R2B_uc011dbu.1_Missense_Mutation_p.S289A|PPP2R2B_uc011dbv.1_Missense_Mutation_p.S341A	p.S283A	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1372	-			283			WD 5.		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.847T>G	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327450	0.81690	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.8	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	M	0.91300	3.195	0.80722	D	1	P;D;D;P;D;D	0.61080	0.863;0.969;0.969;0.863;0.989;0.969	P;D;P;P;D;D	0.65443	0.893;0.935;0.907;0.814;0.935;0.935	T	0.63883	-0.6536	10	0.87932	D	0	-27.6651	10.3579	0.43975	0.8663:0.0:0.1337:0.0	.	341;289;272;349;286;283	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	A	283;272;349;283;283;283;272;286;289;341	ENSP00000377935:S283A;ENSP00000431320:S272A;ENSP00000377936:S349A;ENSP00000377933:S283A;ENSP00000349283:S283A;ENSP00000398779:S283A;ENSP00000377932:S272A;ENSP00000336591:S286A;ENSP00000421396:S289A;ENSP00000377931:S341A	ENSP00000336591:S286A	S	-	1	0	AC011357.1	145960160	1.000000	0.71417	0.935000	0.37517	0.949000	0.60115	7.518000	0.81795	0.456000	0.26937	0.533000	0.62120	TCG		0.423	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		5	147	0	0	0	0.000602	0	5	147				
TENM2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:167525048C>A	ENST00000518659.1	+	9	1768	c.1729C>A	c.(1729-1731)Cca>Aca	p.P577T	TENM2_ENST00000520394.1_Missense_Mutation_p.P345T|TENM2_ENST00000519204.1_Missense_Mutation_p.P456T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.P577T|TENM2_ENST00000403607.2_Missense_Mutation_p.P410T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	577	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.P577T(2)|p.P410T(2)|p.P456T(2)									GCAGGACTGTCCACGTAACTG	0.453																																							uc010jjd.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(6)|central_nervous_system(4)	10						c.(1729-1731)CCA>ACA		odz, odd Oz/ten-m homolog 2							140.0	137.0	138.0					5																	167525048		2026	4185	6211	SO:0001583	missense	57451							g.chr5:167525048C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1729C>A	5.37:g.167525048C>A	ENSP00000429430:p.Pro577Thr					ODZ2_uc003lzq.2_Missense_Mutation_p.P456T|ODZ2_uc003lzr.3_Missense_Mutation_p.P345T|uc003lzs.1_Intron	p.P577T	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	9	1729	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1729C>A		.	.	.	.	.	.	.	.	.	.	C	14.98	2.697368	0.48202	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	4.98	4.98	0.66077	EGF, extracellular (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.89214	3.015	0.51482	D	0.999922	B;P;B	0.42296	0.26;0.775;0.128	B;B;B	0.41412	0.14;0.356;0.166	T	0.58295	-0.7661	10	0.87932	D	0	.	18.6513	0.91431	0.0:1.0:0.0:0.0	.	577;345;456	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	T	577;577;456;345;410	ENSP00000429430:P577T;ENSP00000438635:P577T;ENSP00000428964:P456T;ENSP00000427874:P345T;ENSP00000384905:P410T	ENSP00000384905:P410T	P	+	1	0	ODZ2	167457626	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.445000	0.80570	2.469000	0.83416	0.557000	0.71058	CCA		0.453	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		28	62	1	0	1.26612e-14	0.003271	1.66757e-14	28	62				
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:178506336A>T	ENST00000315475.6	+	5	1209	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301					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.R301R(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCGTATCGATGTAGGGAAT	0.418																																							uc003mju.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(901-903)CGA>CGT		zinc finger protein 354C							153.0	150.0	151.0					5																	178506336		2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506336A>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.903A>T	5.37:g.178506336A>T							p.R301R	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1018	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	301			C2H2-type 4.		Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.903A>T	CCDS4443.1																																																																																				0.418	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			27	245	0	0	0	0.008361	0	27	245				
DUSP22	56940	broad.mit.edu	37	6	348110	348110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:348110G>T	ENST00000344450.5	+	6	714	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.G91W|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	91	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G91W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCTGGCCGGGGTCTCCAG	0.602																																							uc003msx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(271-273)GGG>TGG		dual specificity phosphatase 22							150.0	144.0	146.0					6																	348110		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348110G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.271G>T	6.37:g.348110G>T	ENSP00000345281:p.Gly91Trp					DUSP22_uc011dhn.1_Missense_Mutation_p.G91W|DUSP22_uc003msy.1_Missense_Mutation_p.G48W	p.G91W	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	710	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	91			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.271G>T	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.020376|5.020376	0.93462|0.93462	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000344450|ENST00000419235	D|.	0.97089|.	-4.24|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92473|0.92473	0.7610|0.7610	H|H	0.99931|0.99931	4.975|4.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.95653|0.95653	0.8708|0.8708	10|5	0.87932|.	D|.	0|.	.|.	20.0852|20.0852	0.97797|0.97797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91;48;91|.	Q9NRW4-2;B3KSA8;Q9NRW4|.	.;.;DUS22_HUMAN|.	W|L	91|28	ENSP00000345281:G91W|.	ENSP00000345281:G91W|.	G|R	+|+	1|2	0|0	DUSP22|DUSP22	293110|293110	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.898000|0.898000	0.52572|0.52572	9.807000|9.807000	0.99171|0.99171	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.602	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		17	174	1	0	1.77063e-15	0.005443	2.36962e-15	17	174				
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:6318869C>T	ENST00000264870.3	-	2	294	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	10					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G10E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTTCTGCCTCCAAAGGCGGT	0.478																																							uc003mwv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(28-30)GGA>GAA		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						167.0	154.0	158.0					6																	6318869		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6318869C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.29G>A	6.37:g.6318869C>T	ENSP00000264870:p.Gly10Glu					F13A1_uc011dib.1_Missense_Mutation_p.G10E	p.G10E	NM_000129	NP_000120	P00488	F13A_HUMAN			2	152	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	10					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.29G>A	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.997049|2.997049	0.54147|0.54147	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000451619|ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	.|D;D	.|0.86230	.|-2.09;-2.09	4.92|4.92	4.01|4.01	0.46588|0.46588	.|Immunoglobulin E-set (1);	.|0.341815	.|0.31347	.|N	.|0.007807	T|T	0.66247|0.66247	0.2770|0.2770	N|N	0.19112|0.19112	0.55|0.55	0.25848|0.25848	N|N	0.983976|0.983976	.|D;P	.|0.57257	.|0.979;0.806	.|P;B	.|0.44990	.|0.466;0.057	T|T	0.62048|0.62048	-0.6936|-0.6936	5|10	.|0.37606	.|T	.|0.19	.|.	6.2222|6.2222	0.20687|0.20687	0.0:0.694:0.2045:0.1015|0.0:0.694:0.2045:0.1015	.|.	.|10;10	.|F5H080;P00488	.|.;F13A_HUMAN	K|E	35|10;10;10;48	.|ENSP00000264870:G10E;ENSP00000413334:G10E	.|ENSP00000264870:G10E	E|G	-|-	1|2	0|0	F13A1|F13A1	6263868|6263868	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.592000|0.592000	0.36648|0.36648	1.119000|1.119000	0.31258|0.31258	2.542000|2.542000	0.85734|0.85734	0.643000|0.643000	0.83706|0.83706	GAG|GGA		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		87	315	0	0	0	0.00361	0	87	315				
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7987116	7987116	+	Intron	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:7987116C>A	ENST00000439343.2	-	4	372				TXNDC5_ENST00000539054.1_Intron					BLOC1S5-TXNDC5 readthrough (NMD candidate)									p.T116N(2)									AGCAACCTGACCCCTGCTCAT	0.527																																							uc003mxx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(346-348)ACC>AAC		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																				SO:0001627	intron_variant	206426							g.chr6:7987116C>A			6p24.3	2013-05-09	2013-05-09	2012-08-01	ENSG00000259040	ENSG00000259040			42001	other	readthrough			"""MUTED-TXNDC5 readthrough (non-protein coding)"""	MUTED-TXNDC5			Standard	NR_037616		Approved				OTTHUMG00000171453	ENST00000439343.2:c.372+39483G>T	6.37:g.7987116C>A						TXNDC5_uc003mxw.2_Intron	p.T116N	NR_027712						1	782	+									Missense_Mutation	SNP	ENST00000439343.2	37	c.347C>A																																																																																					0.527	BLOC1S5-TXNDC5-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000413472.1	NR_037616.1		38	112	1	0	9.62906e-15	0.00623	1.26977e-14	38	112				
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:10930655C>A	ENST00000283141.6	+	19	1837	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus (GO:0005634)		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358																																							uc003mzo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1540-1542)ACC>AAC		synaptonemal complex protein 2-like							78.0	73.0	74.0					6																	10930655		1811	4078	5889	SO:0001583	missense	221711					nucleus		g.chr6:10930655C>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1541C>A	6.37:g.10930655C>A	ENSP00000283141:p.Thr514Asn					SYCP2L_uc011din.1_3'UTR|SYCP2L_uc010jow.2_Missense_Mutation_p.T134N	p.T514N	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		19	1837	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	514					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.1541C>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442908	0.25987	.	.	ENSG00000153157	ENST00000283141	T	0.17054	2.3	5.39	3.56	0.40772	.	0.931185	0.09091	N	0.849796	T	0.10294	0.0252	L	0.56769	1.78	0.39421	D	0.966924	P	0.43701	0.815	P	0.45681	0.49	T	0.36553	-0.9743	10	0.17369	T	0.5	-1.0E-4	8.0096	0.30344	0.0:0.7459:0.1646:0.0895	.	514	Q5T4T6	SYC2L_HUMAN	N	514	ENSP00000283141:T514N	ENSP00000283141:T514N	T	+	2	0	SYCP2L	11038641	0.069000	0.21087	0.727000	0.30756	0.119000	0.20118	0.289000	0.18957	1.388000	0.46506	0.650000	0.86243	ACC		0.358	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		10	119	1	0	1.76689e-08	0.006214	2.0878e-08	10	119				
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:16328052C>A	ENST00000244769.4	-	8	1426	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ATXN1_ENST00000436367.1_Missense_Mutation_p.G164W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	164					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.G164W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGTGGCCCCTGCGGCCGAG	0.637																																							uc003nbt.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(490-492)GGG>TGG		ataxin 1							46.0	52.0	50.0					6																	16328052		2190	4288	6478	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328052C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.490G>T	6.37:g.16328052C>A	ENSP00000244769:p.Gly164Trp					ATXN1_uc010jpi.2_Missense_Mutation_p.G164W|ATXN1_uc010jpj.1_Intron	p.G164W	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	1461	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	164					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.490G>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592730	0.28357	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.66995	-0.24;-0.24	4.54	3.37	0.38596	.	0.574541	0.17367	N	0.176829	T	0.51550	0.1681	L	0.43152	1.355	0.09310	N	1	D	0.61697	0.99	P	0.50659	0.647	T	0.44726	-0.9309	10	0.87932	D	0	-10.1169	10.4836	0.44708	0.0:0.8866:0.0:0.1134	.	164	P54253	ATX1_HUMAN	W	164	ENSP00000244769:G164W;ENSP00000416360:G164W	ENSP00000244769:G164W	G	-	1	0	ATXN1	16436031	.	.	0.031000	0.17742	0.126000	0.20510	.	.	0.982000	0.38575	0.467000	0.42956	GGG		0.637	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		20	21	1	0	9.39395e-14	0.00632	1.22678e-13	20	21				
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	A	T	rs184904899	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24134721A>T	ENST00000378491.4	+	3	467	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	NRSN1_ENST00000378475.1_Missense_Mutation_p.R56W|NRSN1_ENST00000378478.1_Missense_Mutation_p.R56W	NM_080723.4	NP_542454.3			neurensin 1									p.R56W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTAACAGGTGGAGCTC	0.453																																							uc010jpq.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(166-168)AGG>TGG		neurensin 1							112.0	98.0	103.0					6																	24134721		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24134721A>T	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.166A>T	6.37:g.24134721A>T	ENSP00000367752:p.Arg56Trp						p.R56W	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			3	403	+			56						Missense_Mutation	SNP	ENST00000378491.4	37	c.166A>T	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087947	0.76642	.	.	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.21734	1.99;1.99;1.99	5.74	1.68	0.24146	.	0.042394	0.85682	D	0.000000	T	0.29491	0.0735	M	0.72118	2.19	0.51012	D	0.999909	D	0.64830	0.994	D	0.64321	0.924	T	0.19549	-1.0302	10	0.87932	D	0	-36.4787	13.0182	0.58771	0.6155:0.3845:0.0:0.0	.	56	Q8IZ57	NRSN1_HUMAN	W	56	ENSP00000367752:R56W;ENSP00000367739:R56W;ENSP00000367736:R56W	ENSP00000367736:R56W	R	+	1	2	NRSN1	24242700	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.397000	0.44477	0.402000	0.25451	0.533000	0.62120	AGG		0.453	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		22	101	0	0	0	0.008361	0	22	101				
KIAA0319	9856	broad.mit.edu	37	6	24596192	24596192	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24596192G>C	ENST00000378214.3	-	3	1234	c.710C>G	c.(709-711)cCc>cGc	p.P237R	KIAA0319_ENST00000535378.1_Missense_Mutation_p.P228R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192R	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P237R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCGGCAAGGGAAGCAACAC	0.547																																							uc011djo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(709-711)CCC>CGC		KIAA0319 precursor							80.0	76.0	77.0					6																	24596192		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596192G>C	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.710C>G	6.37:g.24596192G>C	ENSP00000367459:p.Pro237Arg					KIAA0319_uc011djp.1_Missense_Mutation_p.P192R|KIAA0319_uc003neh.1_Missense_Mutation_p.P237R|KIAA0319_uc011djq.1_Missense_Mutation_p.P228R|KIAA0319_uc011djr.1_Missense_Mutation_p.P237R	p.P237R	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	947	-			237			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.710C>G	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852933	0.32699	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.09255	3.0;3.1;3.1;3.01;3.01	3.83	2.92	0.33932	.	1.195290	0.06264	N	0.694525	T	0.04227	0.0117	L	0.29908	0.895	0.09310	N	1	P;P;P	0.49090	0.919;0.815;0.718	P;P;B	0.45681	0.483;0.49;0.296	T	0.40646	-0.9552	10	0.41790	T	0.15	-3.2495	7.947	0.29993	0.0951:0.1639:0.741:0.0	.	237;228;237	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	R	237;228;192;237;237	ENSP00000439700:P237R;ENSP00000442403:P228R;ENSP00000401086:P192R;ENSP00000367459:P237R;ENSP00000437656:P237R	ENSP00000367459:P237R	P	-	2	0	KIAA0319	24704171	0.007000	0.16637	0.107000	0.21349	0.539000	0.34962	1.907000	0.39897	0.748000	0.32831	0.609000	0.83330	CCC		0.547	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		5	132	0	0	0	0.001168	0	5	132				
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24843104C>G	ENST00000259698.4	-	14	2081	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	FAM65B_ENST00000510784.2_Missense_Mutation_p.D620H|FAM65B_ENST00000378023.4_Missense_Mutation_p.D586H|FAM65B_ENST00000538035.1_Missense_Mutation_p.D615H|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.D586H|AL512428.1_ENST00000583229.1_RNA	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	636					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.D586H(2)|p.D636H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGAATATCATCCAAATTCATG	0.343																																							uc003neo.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1906-1908)GAT>CAT		hypothetical protein LOC9750 isoform 1							53.0	51.0	52.0					6																	24843104		1829	4091	5920	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843104C>G	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1906G>C	6.37:g.24843104C>G	ENSP00000259698:p.Asp636His					FAM65B_uc011djs.1_Missense_Mutation_p.D615H|FAM65B_uc011dju.1_Missense_Mutation_p.D620H|FAM65B_uc003nep.2_Missense_Mutation_p.D586H|FAM65B_uc011djt.1_Missense_Mutation_p.D586H	p.D636H	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			14	2082	-			636					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.1906G>C	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290946	0.80914	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.12	5.12	0.69794	.	0.138506	0.64402	D	0.000003	T	0.46870	0.1415	L	0.29908	0.895	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72625	0.975;0.978;0.957;0.973	T	0.50742	-0.8792	10	0.72032	D	0.01	-26.2149	18.7483	0.91802	0.0:1.0:0.0:0.0	.	620;615;586;636	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	H	636;615;586;586;620	ENSP00000259698:D636H;ENSP00000441138:D615H;ENSP00000367262:D586H;ENSP00000438425:D586H;ENSP00000441305:D620H	ENSP00000259698:D636H	D	-	1	0	FAM65B	24951083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.127000	0.77210	2.660000	0.90430	0.563000	0.77884	GAT		0.343	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			11	42	0	0	0	0.000978	0	11	42				
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:25769244C>A	ENST00000377905.4	+	3	242	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Silent_p.L41L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	41					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.L41L(2)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCCCTCATCTTGCAGC	0.468																																							uc003nfe.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(121-123)CTC>CTA		solute carrier family 17 (sodium phosphate),							104.0	95.0	98.0					6																	25769244		2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25769244C>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.123C>A	6.37:g.25769244C>A						SLC17A4_uc011djx.1_Silent_p.L41L|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR	p.L41L	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			3	242	+			41					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.123C>A	CCDS4564.1																																																																																				0.468	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			35	123	1	0	3.61848e-18	0.007835	5.10177e-18	35	123				
ZNF322	79692	broad.mit.edu	37	6	26637670	26637670	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:26637670G>T	ENST00000415922.2	-	4	1757	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000471278.1_Missense_Mutation_p.T371K	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T371K(1)									AATGTGTACTGTCTGATGTTG	0.438																																							uc003nil.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)ACA>AAA		zinc finger protein 322A							411.0	303.0	340.0					6																	26637670		2202	4299	6501	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637670G>T	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1112C>A	6.37:g.26637670G>T	ENSP00000418897:p.Thr371Lys					ZNF322A_uc003nij.2_5'Flank	p.T371K	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN			4	1741	-			371			C2H2-type 11; degenerate.		A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.1112C>A	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	g	11.87	1.766907	0.31320	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.13538	2.58;2.58	4.75	3.87	0.44632	.	0.308337	0.23583	N	0.046622	T	0.01558	0.0050	N	0.01168	-0.975	0.28221	N	0.926533	B	0.12013	0.005	B	0.16722	0.016	T	0.43718	-0.9374	10	0.59425	D	0.04	-6.6282	6.4906	0.22113	0.1915:0.0:0.8085:0.0	.	371	Q6U7Q0	ZN322_HUMAN	K	371	ENSP00000418897:T371K;ENSP00000419728:T371K	ENSP00000418897:T371K	T	-	2	0	ZNF322	26745649	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.186000	0.16978	2.608000	0.88229	0.655000	0.94253	ACA		0.438	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		44	734	1	0	1.19451e-25	0.00361	1.82472e-25	44	734				
OR2J2	26707	broad.mit.edu	37	6	29141790	29141790	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:29141790T>C	ENST00000377167.2	+	1	480	c.378T>C	c.(376-378)gcT>gcC	p.A126A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A126A(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTATGTAGCTGTGTGTAGAC	0.453																																							uc011dlm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(376-378)GCT>GCC		olfactory receptor, family 2, subfamily J,							346.0	322.0	330.0					6																	29141790		2080	4196	6276	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141790T>C		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.378T>C	6.37:g.29141790T>C							p.A126A	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	480	+			126			Cytoplasmic (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.378T>C	CCDS43434.1																																																																																				0.453	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			109	751	0	0	0	0.00361	0	109	751				
BAG6	7917	broad.mit.edu	37	6	31614237	31614237	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:31614237G>C	ENST00000375964.6	-	8	1183	c.870C>G	c.(868-870)ctC>ctG	p.L290L	BAG6_ENST00000404765.2_Silent_p.L284L|BAG6_ENST00000211379.5_Silent_p.L284L|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000439687.2_Silent_p.L284L|BAG6_ENST00000375976.4_Silent_p.L284L|BAG6_ENST00000362049.6_Silent_p.L284L	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	290	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.L284L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGAAGGGCTGGAGGCGACTCT	0.582																																							uc003nvg.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(868-870)CTC>CTG		HLA-B associated transcript-3 isoform a							106.0	106.0	106.0					6																	31614237		1510	2709	4219	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614237G>C	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.870C>G	6.37:g.31614237G>C						BAT3_uc003nvf.3_Silent_p.L284L|BAT3_uc003nvh.3_Silent_p.L284L|BAT3_uc003nvi.3_Silent_p.L284L|BAT3_uc011dnw.1_Silent_p.L284L|BAT3_uc011dnx.1_Silent_p.L284L|BAT3_uc003nvj.1_Silent_p.L284L	p.L290L	NM_004639	NP_004630	P46379	BAG6_HUMAN			8	1184	-			290			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.870C>G	CCDS47403.1																																																																																				0.582	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		7	100	0	0	0	0.004482	0	7	100				
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:32168740C>A	ENST00000375023.3	-	23	4321	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1395					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.D1395Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCGGGTGGTCAGGGCCACAG	0.637																																							uc003obb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4183-4185)GAC>TAC		notch4 preproprotein							70.0	49.0	56.0					6																	32168740		1511	2709	4220	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32168740C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4183G>T	6.37:g.32168740C>A	ENSP00000364163:p.Asp1395Tyr					NOTCH4_uc003oba.2_Missense_Mutation_p.D58Y|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.D1395Y	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			23	4322	-			1395			Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4183G>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913156	0.52439	.	.	ENSG00000204301	ENST00000375023	T	0.30182	1.54	4.74	3.85	0.44370	Notch, NODP domain (1);	1.191250	0.06279	N	0.697014	T	0.19525	0.0469	N	0.08118	0	0.47737	D	0.9995	P;P	0.38677	0.537;0.642	P;P	0.53266	0.722;0.58	T	0.08411	-1.0723	10	0.72032	D	0.01	.	9.0106	0.36139	0.0:0.8969:0.0:0.1031	.	1395;1394	Q99466;B0S882	NOTC4_HUMAN;.	Y	1395	ENSP00000364163:D1395Y	ENSP00000364163:D1395Y	D	-	1	0	NOTCH4	32276718	0.009000	0.17119	0.842000	0.33263	0.977000	0.68977	0.385000	0.20685	2.497000	0.84241	0.456000	0.33151	GAC		0.637	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			23	35	1	0	6.00712e-18	0.002445	8.42557e-18	23	35				
HLA-DPA1	3113	broad.mit.edu	37	6	33036447	33036447	+	Missense_Mutation	SNP	G	G	A	rs190707736	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:33036447G>A	ENST00000419277.1	-	5	892	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.R255W|HLA-DPA1_ENST00000463066.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	255					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.R255W(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCCTGGGCCCGGGGGTCATGG	0.542													G|||	4	0.000798722	0.0	0.0058	5008	,	,		18055	0.0		0.0	False		,,,				2504	0.0						uc003ocs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(763-765)CGG>TGG		major histocompatibility complex, class II, DP							76.0	105.0	94.0					6																	33036447		1509	2709	4218	SO:0001583	missense	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33036447G>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.763C>T	6.37:g.33036447G>A	ENSP00000393566:p.Arg255Trp					HLA-DPA1_uc010juk.2_Missense_Mutation_p.R255W	p.R255W	NM_033554	NP_291032	P20036	DPA1_HUMAN			4	794	-			255			Cytoplasmic (Potential).		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	c.763C>T	CCDS4764.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.94|11.94	1.788797|1.788797	0.31685|0.31685	.|.	.|.	ENSG00000231389|ENSG00000231389	ENST00000437811|ENST00000419277;ENST00000428995	T|T;T	0.02763|0.02085	4.17|4.46;4.46	3.8|3.8	0.698|0.698	0.18087|0.18087	.|.	.|0.364780	.|0.25076	.|U	.|0.033322	T|T	0.03959|0.03959	0.0111|0.0111	M|M	0.80332|0.80332	2.49|2.49	0.09310|0.09310	N|N	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.70227	.|0.968	T|T	0.20174|0.20174	-1.0283|-1.0283	7|10	0.49607|0.87932	T|D	0.09|0	.|.	6.4855|6.4855	0.22087|0.22087	0.0:0.1761:0.4624:0.3615|0.0:0.1761:0.4624:0.3615	.|.	.|255	.|P20036	.|DPA1_HUMAN	L|W	122|255	ENSP00000405500:P122L|ENSP00000393566:R255W;ENSP00000402872:R255W	ENSP00000405500:P122L|ENSP00000393566:R255W	P|R	-|-	2|1	0|2	HLA-DPA1|HLA-DPA1	33144425|33144425	0.085000|0.085000	0.21516|0.21516	0.124000|0.124000	0.21820|0.21820	0.239000|0.239000	0.25481|0.25481	0.041000|0.041000	0.13927|0.13927	-0.128000|-0.128000	0.11641|0.11641	-0.195000|-0.195000	0.12781|0.12781	CCG|CGG		0.542	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		6	56	0	0	0	0.00308	0	6	56				
CUL7	9820	broad.mit.edu	37	6	43020259	43020259	+	Missense_Mutation	SNP	C	C	A	rs370127154		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43020259C>A	ENST00000265348.3	-	2	353	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W	CUL7_ENST00000535468.1_Missense_Mutation_p.G142W			Q14999	CUL7_HUMAN	cullin 7	90					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGGAGGGCCCGATGACCTGG	0.587																																							uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(268-270)GGG>TGG		cullin 7							75.0	74.0	74.0					6																	43020259		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43020259C>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.268G>T	6.37:g.43020259C>A	ENSP00000265348:p.Gly90Trp					CUL7_uc011dvb.1_Missense_Mutation_p.G142W|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.G90W	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	571	-			90					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.268G>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	9.608	1.130596	0.21041	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80824	-1.4;-1.42	5.6	1.67	0.24075	.	1.253770	0.05419	N	0.543865	T	0.48241	0.1489	L	0.27053	0.805	0.24747	N	0.993004	B;B	0.16166	0.016;0.001	B;B	0.14578	0.011;0.007	T	0.42481	-0.9449	10	0.87932	D	0	-4.8864	2.586	0.04830	0.1251:0.5038:0.122:0.2491	.	142;90	F5H0L1;Q14999	.;CUL7_HUMAN	W	90;142	ENSP00000265348:G90W;ENSP00000438788:G142W	ENSP00000265348:G90W	G	-	1	0	CUL7	43128237	0.974000	0.33945	0.504000	0.27639	0.836000	0.47400	0.405000	0.21015	0.009000	0.14813	-0.254000	0.11334	GGG		0.587	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		3	87	1	0	0.004672	0.004672	0.00487985	3	87				
TTBK1	84630	broad.mit.edu	37	6	43225570	43225570	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43225570G>A	ENST00000259750.4	+	10	965	c.882G>A	c.(880-882)gaG>gaA	p.E294E	TTBK1_ENST00000304139.5_Silent_p.E243E	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E294E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CAGTGTTTGAGAACAGCATGA	0.602																																							uc003ouq.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(880-882)GAG>GAA		tau tubulin kinase 1							120.0	106.0	111.0					6																	43225570		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43225570G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.882G>A	6.37:g.43225570G>A							p.E294E	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		10	1161	+			294			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.882G>A	CCDS34455.1																																																																																				0.602	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			4	118	0	0	0	0.001984	0	4	118				
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:46657599G>T	ENST00000316081.6	+	1	1734	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	TDRD6_ENST00000544460.1_Silent_p.V578V|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.V578V(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGAAAATGTGGACTGGTATG	0.433																																							uc003oyj.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|ovary(2)|skin(1)	6						c.(1732-1734)GTG>GTT		tudor domain containing 6							158.0	153.0	155.0					6																	46657599		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657599G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1734G>T	6.37:g.46657599G>T						TDRD6_uc010jze.2_Silent_p.V572V	p.V578V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1734	+			578			Tudor 3.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.1734G>T	CCDS34470.1																																																																																				0.433	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		69	194	1	0	5.88917e-42	0.00361	9.96913e-42	69	194				
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:46806811G>T	ENST00000230588.4	+	14	2188	c.2179G>T	c.(2179-2181)Gct>Tct	p.A727S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	727					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A727S(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGAGGCACGGCTGGCGTGAT	0.602																																							uc010jzh.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(2179-2181)GCT>TCT		meprin A alpha precursor							120.0	101.0	107.0					6																	46806811		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806811G>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2179G>T	6.37:g.46806811G>T	ENSP00000230588:p.Ala727Ser					MEP1A_uc011dwg.1_Missense_Mutation_p.A449S|MEP1A_uc011dwh.1_Missense_Mutation_p.A755S|MEP1A_uc011dwi.1_Missense_Mutation_p.A627S	p.A727S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2221	+			727			Helical; (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.2179G>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685878	0.68157	.	.	ENSG00000112818	ENST00000230588	T	0.28069	1.63	5.8	4.92	0.64577	.	0.139859	0.64402	D	0.000004	T	0.21427	0.0516	L	0.57536	1.79	0.47862	D	0.99953	P;P	0.43857	0.819;0.819	B;B	0.41374	0.355;0.334	T	0.02683	-1.1124	10	0.48119	T	0.1	-15.4963	15.2653	0.73657	0.068:0.0:0.932:0.0	.	755;727	B7ZL91;Q16819	.;MEP1A_HUMAN	S	727	ENSP00000230588:A727S	ENSP00000230588:A727S	A	+	1	0	MEP1A	46914770	0.980000	0.34600	0.050000	0.19076	0.043000	0.13939	3.499000	0.53310	1.432000	0.47375	0.650000	0.86243	GCT		0.602	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		48	178	1	0	1.11015e-26	0.00361	1.70549e-26	48	178				
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	G	rs528776718		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:47846506C>G	ENST00000339488.4	-	3	2107	c.2074G>C	c.(2074-2076)Gtc>Ctc	p.V692L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	692						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453																																							uc011dwm.1		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(2023-2025)GTC>CTC		hypothetical protein LOC442213							84.0	81.0	82.0					6																	47846506		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846506C>G		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2074G>C	6.37:g.47846506C>G	ENSP00000341914:p.Val692Leu					C6orf138_uc011dwn.1_Missense_Mutation_p.V439L	p.V675L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	2108	-			692			Helical; (Potential).		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2023G>C	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495160	0.64186	.	.	ENSG00000244694	ENST00000339488	D	0.84730	-1.89	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	L	0.51422	1.61	0.80722	D	1	P	0.42785	0.79	P	0.58520	0.84	T	0.83334	-0.0011	10	0.26408	T	0.33	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	692	Q6ZW05	CF138_HUMAN	L	692	ENSP00000341914:V692L	ENSP00000341914:V692L	V	-	1	0	C6orf138	47954465	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.686000	0.61700	2.814000	0.96858	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		26	95	0	0	0	0.005443	0	26	95				
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:50011302C>T	ENST00000322246.4	-	2	327	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	110					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.D110N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGACGTGAGTCTTTAGGGTAC	0.408																																							uc011dws.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(328-330)GAC>AAC		beta-defensin 112 precursor							103.0	88.0	93.0					6																	50011302		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011302C>T	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.328G>A	6.37:g.50011302C>T	ENSP00000319126:p.Asp110Asn						p.D110N	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			2	328	-	Lung NSC(77;0.042)		110					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.328G>A	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481173	0.26598	.	.	ENSG00000180872	ENST00000322246	.	.	.	0.513	0.513	0.17000	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.61658	0.892	T	0.08146	-1.0736	7	0.87932	D	0	.	.	.	.	.	110	Q30KQ8	DB112_HUMAN	N	110	.	ENSP00000319126:D110N	D	-	1	0	DEFB112	50119261	0.007000	0.16637	0.004000	0.12327	0.005000	0.04900	0.428000	0.21395	0.544000	0.28883	0.549000	0.68633	GAC		0.408	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		15	64	0	0	0	0.007413	0	15	64				
IL17F	112744	broad.mit.edu	37	6	52109223	52109223	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:52109223G>T	ENST00000336123.4	-	1	112	c.5C>A	c.(4-6)aCa>aAa	p.T2K		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	2					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.T2K(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGTCTTCACTGTCATGTTGCG	0.448																																							uc003pam.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)ACA>AAA		interleukin 17F precursor							195.0	159.0	172.0					6																	52109223		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52109223G>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.5C>A	6.37:g.52109223G>T	ENSP00000337432:p.Thr2Lys						p.T2K	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			1	76	-	Lung NSC(77;0.116)		2					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.5C>A	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031391	0.54790	.	.	ENSG00000112116	ENST00000336123	T	0.45276	0.9	5.05	3.18	0.36537	.	0.623212	0.14959	N	0.288472	T	0.25344	0.0616	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.54544	0.755	T	0.08576	-1.0715	10	0.87932	D	0	.	11.7591	0.51892	0.0:0.3179:0.6821:0.0	.	2	Q96PD4	IL17F_HUMAN	K	2	ENSP00000337432:T2K	ENSP00000337432:T2K	T	-	2	0	IL17F	52217182	0.003000	0.15002	0.005000	0.12908	0.039000	0.13416	0.730000	0.26043	0.769000	0.33313	0.655000	0.94253	ACA		0.448	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		9	277	1	0	0.00136819	0.001368	0.00144868	9	277				
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:72806785G>T	ENST00000521978.1	+	3	379	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	RIMS1_ENST00000518273.1_Missense_Mutation_p.G127W|RIMS1_ENST00000520567.1_Missense_Mutation_p.G127W|RIMS1_ENST00000264839.7_Missense_Mutation_p.G127W|RIMS1_ENST00000522291.1_Missense_Mutation_p.G127W|RIMS1_ENST00000491071.2_Missense_Mutation_p.G127W|RIMS1_ENST00000348717.5_Missense_Mutation_p.G127W|RIMS1_ENST00000517960.1_Missense_Mutation_p.G127W	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.G127W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTTGCTGATGGGTGCGGTCA	0.507																																							uc003pga.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|breast(1)	10						c.(379-381)GGG>TGG		regulating synaptic membrane exocytosis 1							87.0	91.0	90.0					6																	72806785		2066	4222	6288	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806785G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.379G>T	6.37:g.72806785G>T	ENSP00000428417:p.Gly127Trp						p.G127W	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			3	456	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	127			RabBD.|FYVE-type.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.379G>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996610	0.74818	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.76839	-1.05;1.18;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000008	D	0.89305	0.6677	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90050	0.4148	10	0.87932	D	0	-19.3882	20.0804	0.97772	0.0:0.0:1.0:0.0	.	127	Q86UR5	RIMS1_HUMAN	W	127	ENSP00000430101:G127W;ENSP00000275037:G127W;ENSP00000264839:G127W;ENSP00000429959:G127W;ENSP00000430408:G127W;ENSP00000430502:G127W;ENSP00000430932:G127W;ENSP00000428417:G127W	ENSP00000264839:G127W	G	+	1	0	RIMS1	72863506	1.000000	0.71417	0.987000	0.45799	0.212000	0.24457	9.843000	0.99491	2.738000	0.93877	0.655000	0.94253	GGG		0.507	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			35	93	1	0	1.60099e-16	0.004878	2.19146e-16	35	93				
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:74440084A>T	ENST00000287097.5	+	4	406	c.294A>T	c.(292-294)gcA>gcT	p.A98A	CD109_ENST00000437994.2_Silent_p.A98A|CD109_ENST00000422508.2_Intron			Q6YHK3	CD109_HUMAN	CD109 molecule	98					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.A98A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGTGCAGATGAGATTT	0.373																																							uc003php.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(292-294)GCA>GCT		CD109 antigen isoform 1 precursor							114.0	112.0	113.0					6																	74440084		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74440084A>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.294A>T	6.37:g.74440084A>T						CD109_uc010kaz.2_Silent_p.A98A|CD109_uc003phq.2_Silent_p.A98A|CD109_uc010kba.2_Intron	p.A98A	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			4	719	+			98					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.294A>T	CCDS4982.1																																																																																				0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		32	113	0	0	0	0.009718	0	32	113				
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:87966098G>T	ENST00000369577.3	+	8	2794	c.2751G>T	c.(2749-2751)ttG>ttT	p.L917F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L912F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	917						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L917F(2)|p.L772F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACCATTGTCAAATGGTT	0.443																																							uc003plm.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)	4						c.(2749-2751)TTG>TTT		zinc finger protein 292							76.0	72.0	74.0					6																	87966098		1920	4126	6046	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966098G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2751G>T	6.37:g.87966098G>T	ENSP00000358590:p.Leu917Phe						p.L917F	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	2792	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	917					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.2751G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	8.366	0.834119	0.16820	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08634	3.07;3.08	5.77	3.99	0.46301	.	0.454035	0.20792	N	0.085584	T	0.02193	0.0068	N	0.24115	0.695	0.09310	N	0.999993	B	0.33448	0.412	B	0.34722	0.188	T	0.37337	-0.9710	10	0.56958	D	0.05	.	7.5533	0.27810	0.1416:0.0:0.7224:0.1361	.	917	O60281	ZN292_HUMAN	F	917;912	ENSP00000358590:L917F;ENSP00000342847:L912F	ENSP00000342847:L912F	L	+	3	2	ZNF292	88022817	0.913000	0.31002	0.992000	0.48379	0.757000	0.42996	1.440000	0.35024	1.451000	0.47736	0.591000	0.81541	TTG		0.443	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		60	167	1	0	2.36135e-34	0.00361	3.81776e-34	60	167				
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:89895078G>A	ENST00000454853.2	-	7	857	c.747C>T	c.(745-747)ctC>ctT	p.L249L	GABRR1_ENST00000369451.3_Silent_p.L162L|GABRR1_ENST00000435811.1_Silent_p.L232L	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	249					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L243L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATTCCTGAATGAGGAACTGGG	0.488																																							uc003pna.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(745-747)CTC>CTT		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						254.0	224.0	234.0					6																	89895078		2203	4300	6503	SO:0001819	synonymous_variant	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89895078G>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.747C>T	6.37:g.89895078G>A						GABRR1_uc011dzv.1_Silent_p.L226L	p.L249L	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	7	1202	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	249			Extracellular (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	ENST00000454853.2	37	c.747C>T	CCDS5019.2																																																																																				0.488	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			13	414	0	0	0	0.001855	0	13	414				
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:93964397C>T	ENST00000369303.4	-	14	2684	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E834K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAGGTCTTTCTCCATAAGAC	0.398																																							uc003poe.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2500-2502)GAA>AAA		ephrin receptor EphA7 precursor							148.0	129.0	136.0					6																	93964397		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93964397C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2500G>A	6.37:g.93964397C>T	ENSP00000358309:p.Glu834Lys					EPHA7_uc003pof.2_Missense_Mutation_p.E829K|EPHA7_uc011eac.1_Missense_Mutation_p.E830K	p.E834K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2741	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	834			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2500G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582347	0.96578	.	.	ENSG00000135333	ENST00000369303	D	0.82619	-1.63	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	N	0.11131	0.1	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.943;0.999;0.999	D	0.86371	0.1723	10	0.87932	D	0	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	830;829;834	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	834	ENSP00000358309:E834K	ENSP00000358309:E834K	E	-	1	0	EPHA7	94021118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	2.599000	0.87857	0.650000	0.86243	GAA		0.398	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			21	102	0	0	0	0.003954	0	21	102				
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	T	rs370981552		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97063550G>T	ENST00000326771.2	+	7	1137	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	FHL5_ENST00000541107.1_Missense_Mutation_p.G253W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458																																							uc003pos.1		NA																	3	Substitution - Missense(3)		lung(2)|kidney(1)	ovary(2)	2						c.(757-759)GGG>TGG		activator of cAMP-responsive element modulator							113.0	110.0	111.0					6																	97063550		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97063550G>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.757G>T	6.37:g.97063550G>T	ENSP00000326022:p.Gly253Trp					FHL5_uc003pot.1_Missense_Mutation_p.G253W	p.G253W	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	7	1162	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	253			LIM zinc-binding 4.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.757G>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120364	0.56613	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	D;D	0.87412	-2.25;-2.25	5.66	3.87	0.44632	Zinc finger, LIM-type (5);	0.181180	0.27004	N	0.021405	T	0.72882	0.3516	L	0.37850	1.14	0.26322	N	0.97765	B	0.17268	0.021	B	0.29267	0.1	T	0.69862	-0.5030	10	0.87932	D	0	.	11.6625	0.51356	0.1973:0.0:0.8027:0.0	.	253	Q5TD97	FHL5_HUMAN	W	253	ENSP00000442357:G253W;ENSP00000326022:G253W	ENSP00000326022:G253W	G	+	1	0	FHL5	97170271	0.043000	0.20138	0.978000	0.43139	0.976000	0.68499	1.908000	0.39907	1.393000	0.46605	0.655000	0.94253	GGG		0.458	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		39	96	1	0	7.70917e-36	0.00361	1.25579e-35	39	96				
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97246908T>G	ENST00000229955.3	-	2	1045	c.700A>C	c.(700-702)Aca>Cca	p.T234P	GPR63_ENST00000417980.1_Missense_Mutation_p.T234P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T234P(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGATTGGTTGTGTACCCAAAC	0.448																																							uc010kcl.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(700-702)ACA>CCA		G protein-coupled receptor 63							77.0	82.0	80.0					6																	97246908		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246908T>G	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.700A>C	6.37:g.97246908T>G	ENSP00000229955:p.Thr234Pro					GPR63_uc003pou.2_Missense_Mutation_p.T234P	p.T234P	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1178	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	234			Extracellular (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.700A>C	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.678988	0.29783	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.35048	1.33;1.33;1.33	5.2	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.126503	0.52532	D	0.000072	T	0.13841	0.0335	L	0.35341	1.055	0.44515	D	0.997465	B	0.17465	0.022	B	0.20955	0.032	T	0.04153	-1.0973	10	0.51188	T	0.08	-12.4653	9.8735	0.41189	0.3315:0.0:0.0:0.6685	.	234	Q9BZJ6	GPR63_HUMAN	P	258;234;234;234	ENSP00000393170:T234P;ENSP00000229955:T234P;ENSP00000358273:T234P	ENSP00000229955:T234P	T	-	1	0	GPR63	97353629	1.000000	0.71417	0.759000	0.31340	0.943000	0.58893	4.773000	0.62331	0.887000	0.36136	0.528000	0.53228	ACA		0.448	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			56	186	0	0	0	0.00361	0	56	186				
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97247592C>A	ENST00000229955.3	-	2	361	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	GPR63_ENST00000417980.1_Missense_Mutation_p.V6L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V6L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCAGTCAACACTGCCGAGAAG	0.463																																							uc010kcl.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(16-18)GTG>TTG		G protein-coupled receptor 63							109.0	99.0	102.0					6																	97247592		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247592C>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.16G>T	6.37:g.97247592C>A	ENSP00000229955:p.Val6Leu					GPR63_uc003pou.2_Missense_Mutation_p.V6L	p.V6L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	494	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	6			Extracellular (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.16G>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	4.069	0.010668	0.07912	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.59083	0.29;0.29;0.29	5.26	2.47	0.30058	.	0.367561	0.19482	N	0.113188	T	0.16214	0.0390	N	0.19112	0.55	0.25017	N	0.99137	B	0.02656	0.0	B	0.04013	0.001	T	0.18587	-1.0332	10	0.34782	T	0.22	-0.0155	4.3223	0.11023	0.0:0.4644:0.1625:0.3731	.	6	Q9BZJ6	GPR63_HUMAN	L	30;6;6;6	ENSP00000393170:V6L;ENSP00000229955:V6L;ENSP00000358273:V6L	ENSP00000229955:V6L	V	-	1	0	GPR63	97354313	0.985000	0.35326	0.900000	0.35374	0.202000	0.24057	0.073000	0.14640	0.301000	0.22738	-0.283000	0.09986	GTG		0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			112	366	1	0	1.46217e-58	0.00361	2.6319e-58	112	366				
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:114270215C>T	ENST00000519065.1	-	8	1145	c.769G>A	c.(769-771)Gct>Act	p.A257T	HDAC2_ENST00000519108.1_Missense_Mutation_p.A227T|HDAC2_ENST00000398283.2_Missense_Mutation_p.A351T|HDAC2_ENST00000368632.2_Missense_Mutation_p.A227T			Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|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)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A257T(2)|p.A351T(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	AATACCACAGCACTAGGTTGA	0.378																																							uc003pwd.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1051-1053)GCT>ACT		histone deacetylase 2	Vorinostat(DB02546)						207.0	186.0	193.0					6																	114270215		1993	4178	6171	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114270215C>T	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.769G>A	6.37:g.114270215C>T	ENSP00000430432:p.Ala257Thr					HDAC2_uc003pwc.1_Missense_Mutation_p.A227T|HDAC2_uc003pwe.1_Missense_Mutation_p.A227T	p.A351T	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	8	1051	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	257			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1051G>A	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	31	5.077502	0.94000	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.8	4.93	0.64822	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	D	0.83580	0.5285	M	0.93720	3.45	0.80722	D	1	P;P	0.51057	0.94;0.941	P;P	0.58721	0.844;0.602	D	0.88551	0.3116	10	0.87932	D	0	-20.6364	16.2981	0.82786	0.1334:0.8666:0.0:0.0	.	227;257	B3KRS5;Q92769	.;HDAC2_HUMAN	T	257;351;227;227	ENSP00000430432:A257T;ENSP00000381331:A351T;ENSP00000430008:A227T;ENSP00000357621:A227T	ENSP00000357621:A227T	A	-	1	0	HDAC2	114376908	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.756000	0.85195	1.444000	0.47605	0.655000	0.94253	GCT		0.378	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			88	216	0	0	0	0.00361	0	88	216				
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:129511367A>T	ENST00000421865.2	+	11	1534	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	495	Laminin EGF-like 4. {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.G495G(2)		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)		TTGAAGGAGGAGACTGTAGTC	0.403																																							uc003qbn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(1)|skin(1)	10						c.(1483-1485)GGA>GGT		laminin alpha 2 subunit isoform a precursor							133.0	131.0	132.0					6																	129511367		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129511367A>T	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.1485A>T	6.37:g.129511367A>T						LAMA2_uc003qbo.2_Silent_p.G495G	p.G495G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	11	1590	+			495			Laminin EGF-like 4.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.1485A>T	CCDS5138.1																																																																																				0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			38	125	0	0	0	0.00361	0	38	125				
ENPP3	5169	broad.mit.edu	37	6	131962666	131962666	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:131962666G>C	ENST00000414305.1	+	3	478	c.150G>C	c.(148-150)aaG>aaC	p.K50N	ENPP3_ENST00000427148.2_Missense_Mutation_p.K16N|RNU4-18P_ENST00000516751.1_RNA|ENPP3_ENST00000357639.3_Missense_Mutation_p.K50N|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.K50N|ENPP3_ENST00000543135.1_Missense_Mutation_p.K16N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	50	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.K50N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AACTGGAAAAGCAAGGTATAC	0.423																																							uc003qcu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(148-150)AAG>AAC		ectonucleotide pyrophosphatase/phosphodiesterase							88.0	89.0	88.0					6																	131962666		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131962666G>C	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.150G>C	6.37:g.131962666G>C	ENSP00000406261:p.Lys50Asn					ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.K16N|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_Intron|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.K50N	p.K50N	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	3	497	+	Breast(56;0.0753)		50			Extracellular (Potential).|SMB 1.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.150G>C	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	5.120	0.207778	0.09704	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.73681	-0.77;-0.77;0.91;0.91;0.91	5.74	-8.98	0.00754	Somatomedin B domain (2);	2.126750	0.01854	N	0.036132	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09378	-1.0677	10	0.32370	T	0.25	1.6411	0.2297	0.00178	0.3593:0.1829:0.1814:0.2763	.	50	O14638	ENPP3_HUMAN	N	50;50;16;16;50	ENSP00000406261:K50N;ENSP00000350265:K50N;ENSP00000440810:K16N;ENSP00000399269:K16N;ENSP00000350964:K50N	ENSP00000350265:K50N	K	+	3	2	ENPP3	132004359	0.001000	0.12720	0.001000	0.08648	0.052000	0.14988	-0.577000	0.05847	-1.388000	0.02092	-0.967000	0.02615	AAG		0.423	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			4	164	0	0	0	0.009096	0	4	164				
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	C	A	rs561459986		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:135539023C>A	ENST00000367814.4	+	15	2014	c.1828C>A	c.(1828-1830)Cct>Act	p.P610T	MYB_ENST00000316528.8_Missense_Mutation_p.P696T|MYB_ENST00000533624.1_Missense_Mutation_p.P575T|MYB_ENST00000534044.1_Missense_Mutation_p.P573T|MYB_ENST00000341911.5_Missense_Mutation_p.P731T|MYB_ENST00000442647.2_Missense_Mutation_p.P607T|MYB_ENST00000534121.1_Missense_Mutation_p.P715T|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Missense_Mutation_p.P525T|MYB_ENST00000528774.1_Missense_Mutation_p.P728T	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	610					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P731T(2)|p.P610T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCTGGGAACCTGCATCCTG	0.517			T	NFIB	adenoid cystic carcinoma																																		uc003qfc.2		NA		Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		4	Substitution - Missense(4)		lung(4)	lung(1)	1						c.(1828-1830)CCT>ACT		v-myb myeloblastosis viral oncogene homolog							184.0	165.0	171.0					6																	135539023		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135539023C>A		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1828C>A	6.37:g.135539023C>A	ENSP00000356788:p.Pro610Thr					MYB_uc003qfh.2_Missense_Mutation_p.P731T|MYB_uc003qfi.2_Missense_Mutation_p.P715T|MYB_uc010kgi.2_Missense_Mutation_p.P573T|MYB_uc003qfq.2_Missense_Mutation_p.P728T|MYB_uc010kgj.2_Missense_Mutation_p.P575T|MYB_uc003qfo.2_Missense_Mutation_p.P525T|MYB_uc003qfu.2_Missense_Mutation_p.P607T|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.P236T|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.P422T|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA	p.P610T	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	15	2027	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	610					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1828C>A	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.642166	0.00799	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000367814;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T	0.20598	2.97;2.48;2.32;2.48;2.16;2.97;2.96;2.06;2.47	5.65	-11.3	0.00108	.	0.811245	0.12040	N	0.505134	T	0.01592	0.0051	N	0.13098	0.295	0.09310	N	1	B;B;B;B;B;B;B;B	0.19073	0.014;0.014;0.009;0.009;0.0;0.005;0.033;0.007	B;B;B;B;B;B;B;B	0.26310	0.013;0.013;0.008;0.021;0.0;0.021;0.068;0.003	T	0.32134	-0.9918	10	0.06891	T	0.86	0.571	4.5286	0.11994	0.0875:0.1431:0.4999:0.2695	.	575;573;607;728;525;715;731;610	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242	.;.;.;.;.;.;.;MYB_HUMAN	T	731;607;696;610;525;728;715;573;575	ENSP00000339992:P731T;ENSP00000410825:P607T;ENSP00000326328:P696T;ENSP00000356788:P610T;ENSP00000435938:P525T;ENSP00000434723:P728T;ENSP00000432851:P715T;ENSP00000435055:P573T;ENSP00000436605:P575T	ENSP00000326328:P696T	P	+	1	0	MYB	135580716	0.000000	0.05858	0.000000	0.03702	0.957000	0.61999	-1.483000	0.02318	-2.185000	0.00761	-0.150000	0.13652	CCT		0.517	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			102	266	1	0	2.11273e-47	0.00361	3.66252e-47	102	266				
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:146262871C>G	ENST00000367505.2	-	10	2642	c.2378G>C	c.(2377-2379)cGt>cCt	p.R793P	SHPRH_ENST00000275233.7_Missense_Mutation_p.R793P|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793P|SHPRH_ENST00000367503.3_Missense_Mutation_p.R793P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R793P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTAGGCGACGCCCATCCTC	0.468																																							uc003qlf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2377-2379)CGT>CCT		SNF2 histone linker PHD RING helicase isoform a							73.0	79.0	77.0					6																	146262871		2020	4187	6207	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146262871C>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2378G>C	6.37:g.146262871C>G	ENSP00000356475:p.Arg793Pro					SHPRH_uc003qld.2_Missense_Mutation_p.R793P|SHPRH_uc003qle.2_Missense_Mutation_p.R793P|SHPRH_uc003qlg.1_Missense_Mutation_p.R349P|SHPRH_uc003qlj.1_Missense_Mutation_p.R682P	p.R793P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2777	-		Ovarian(120;0.0365)	793			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2378G>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036083	0.93630	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.76316	-1.01;-1.0;-0.99;-1.01	5.69	5.69	0.88448	DEAD-like helicase (1);SNF2-related (1);	0.138411	0.49916	D	0.000129	D	0.85669	0.5750	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.993	D;D;P	0.91635	0.999;0.924;0.876	D	0.86224	0.1633	10	0.87932	D	0	-9.9321	19.8118	0.96549	0.0:1.0:0.0:0.0	.	682;793;793	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	P	793	ENSP00000356475:R793P;ENSP00000356473:R793P;ENSP00000412797:R793P;ENSP00000275233:R793P	ENSP00000275233:R793P	R	-	2	0	SHPRH	146304564	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.761000	0.85260	2.684000	0.91462	0.650000	0.86243	CGT		0.468	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		25	69	0	0	0	0.005443	0	25	69				
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:152265375C>A	ENST00000206249.3	+	4	1190	c.828C>A	c.(826-828)ggC>ggA	p.G276G	ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000427531.2_Silent_p.G103G|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Silent_p.G276G|ESR1_ENST00000440973.1_Silent_p.G276G|ESR1_ENST00000338799.5_Silent_p.G276G	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	276	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.|Self-association.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G276G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ATGGGGAGGGCAGGGGTGAAG	0.507																																							uc003qom.3		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(826-828)GGC>GGA		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						95.0	99.0	98.0					6																	152265375		2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265375C>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.828C>A	6.37:g.152265375C>A						ESR1_uc010kin.2_Silent_p.G276G|ESR1_uc010kio.2_Silent_p.G278G|ESR1_uc010kip.2_Silent_p.G275G|ESR1_uc003qon.3_Silent_p.G276G|ESR1_uc003qoo.3_Silent_p.G276G|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.G57G|ESR1_uc010kit.1_Silent_p.G13G|ESR1_uc011eey.1_Silent_p.G13G	p.G276G	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1198	+		Ovarian(120;0.0448)	276			Interaction with AKAP13.|Hinge.|Mediates interaction with DNTTIP2.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.828C>A	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	8.619	0.890860	0.17613	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.66	1.46	0.22682	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.35248	D	0.778419	.	.	.	.	.	.	T	0.36286	-0.9754	4	.	.	.	.	11.0058	0.47633	0.2199:0.4596:0.3204:0.0	.	.	.	.	E	181	.	.	A	+	2	0	ESR1	152307068	0.982000	0.34865	0.503000	0.27626	0.841000	0.47740	0.078000	0.14761	0.674000	0.31244	0.655000	0.94253	GCA		0.507	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			46	154	1	0	4.96213e-28	0.00361	7.71094e-28	46	154				
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:152763330G>T	ENST00000367255.5	-	31	4489	c.3888C>A	c.(3886-3888)atC>atA	p.I1296I	SYNE1_ENST00000367253.4_Silent_p.I1296I|SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000448038.1_Silent_p.I1303I|SYNE1_ENST00000341594.5_Silent_p.I1362I|SYNE1_ENST00000367248.3_Silent_p.I1286I|SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000423061.1_Silent_p.I1303I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557										HNSCC(10;0.0054)																													uc010kiw.2		NA																	6	Substitution - coding silent(6)		lung(6)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3886-3888)ATC>ATA		spectrin repeat containing, nuclear envelope 1							80.0	71.0	74.0					6																	152763330		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763330G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3888C>A	6.37:g.152763330G>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.I1303I|SYNE1_uc003qou.3_Silent_p.I1296I|SYNE1_uc010kjb.1_Silent_p.I1279I|SYNE1_uc003qow.2_Silent_p.I591I|SYNE1_uc003qox.1_Silent_p.I812I	p.I1296I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4490	-		Ovarian(120;0.0955)	1296			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.3888C>A	CCDS5236.2																																																																																				0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		37	76	1	0	1.01817e-39	0.009718	1.70485e-39	37	76				
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:160977165T>A	ENST00000316300.5	-	30	4909	c.4865A>T	c.(4864-4866)cAg>cTg	p.Q1622L	LPA_ENST00000447678.1_Missense_Mutation_p.Q1622L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Q1622L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGATAACTCTGGCCATTACC	0.483																																							uc003qtl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|pancreas(1)	6						c.(4864-4866)CAG>CTG		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						158.0	161.0	160.0					6																	160977165		2190	4300	6490	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160977165T>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4865A>T	6.37:g.160977165T>A	ENSP00000321334:p.Gln1622Leu						p.Q1622L	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	31	4985	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4130			Kringle 37.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4865A>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	7.648	0.682327	0.14907	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.66815	-0.23;-0.23	2.77	2.77	0.32553	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.54565	0.1866	N	0.26042	0.785	0.09310	N	1	D	0.60575	0.988	D	0.74348	0.983	T	0.43343	-0.9397	9	0.72032	D	0.01	.	5.6516	0.17620	0.0:0.1358:0.0:0.8642	.	4130	P08519	APOA_HUMAN	L	1622	ENSP00000321334:Q1622L;ENSP00000395608:Q1622L	ENSP00000321334:Q1622L	Q	-	2	0	LPA	160897155	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.571000	0.23669	1.270000	0.44297	0.402000	0.26972	CAG		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		202	484	0	0	0	0.00361	0	202	484				
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:170088913C>A	ENST00000448612.1	-	2	298	c.189G>T	c.(187-189)caG>caT	p.Q63H	WDR27_ENST00000423258.1_Splice_Site_p.Q63H|WDR27_ENST00000420344.2_Splice_Site_p.Q63H|WDR27_ENST00000333572.6_Splice_Site_p.Q63H	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	63						nucleus (GO:0005634)		p.Q63H(6)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTCAATACCTGATGAGAAG	0.468																																							uc003qwx.2		NA																	6	Substitution - Missense(6)		lung(6)	pancreas(1)	1						c.(187-189)CAG>CAT		RecName: Full=WD repeat-containing protein 27;							147.0	144.0	145.0					6																	170088913		2023	4187	6210	SO:0001630	splice_region_variant	253769							g.chr6:170088913C>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.189+1G>T	6.37:g.170088913C>A						WDR27_uc010kkw.1_Missense_Mutation_p.Q63H|WDR27_uc003qwy.2_Missense_Mutation_p.Q63H|WDR27_uc011egw.1_RNA|WDR27_uc010kkx.2_Missense_Mutation_p.Q63H	p.Q63H			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	2	709	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	63			WD 1.		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.189G>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792250	0.50102	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258;ENST00000420344;ENST00000474018	T;T;T;T;T	0.70986	1.03;1.93;1.71;-0.53;-0.53	5.53	5.53	0.82687	.	0.247652	0.33496	N	0.004844	T	0.80076	0.4557	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.956;0.982;0.988	T	0.79492	-0.1781	9	.	.	.	-18.8198	16.3795	0.83443	0.0:1.0:0.0:0.0	.	63;63;63;63	A2RRH5-3;F2Z2U5;A2RRH5-2;C9JGV0	.;.;.;.	H	63	ENSP00000416289:Q63H;ENSP00000330265:Q63H;ENSP00000397869:Q63H;ENSP00000406114:Q63H;ENSP00000449696:Q63H	.	Q	-	3	2	WDR27	169830838	1.000000	0.71417	0.984000	0.44739	0.042000	0.13812	3.811000	0.55620	2.588000	0.87417	0.655000	0.94253	CAG		0.468	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	Missense_Mutation	151	362	1	0	1.3188e-82	0.00361	2.49878e-82	151	362				
BRAT1	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:2582880T>C	ENST00000340611.4	-	6	1137	c.881A>G	c.(880-882)cAc>cGc	p.H294R	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	294					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.H294R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGTCCCATGTGGGTGGGACC	0.642																																							uc003smi.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(880-882)CAC>CGC		hypothetical protein LOC221927 precursor							56.0	59.0	58.0					7																	2582880		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2582880T>C	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.881A>G	7.37:g.2582880T>C	ENSP00000339637:p.His294Arg					C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_3'UTR	p.H294R	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	6	923	-		Ovarian(82;0.0779)	294					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.881A>G	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	T	9.801	1.180619	0.21787	.	.	ENSG00000106009	ENST00000340611	D	0.89875	-2.58	5.85	5.85	0.93711	Armadillo-type fold (1);	0.370630	0.30565	N	0.009344	T	0.78848	0.4348	N	0.08118	0	0.22648	N	0.998897	B	0.26318	0.146	B	0.22152	0.038	T	0.72124	-0.4385	10	0.62326	D	0.03	-8.117	13.7517	0.62912	0.0:0.0:0.0:1.0	.	294	Q6PJG6	BRAT1_HUMAN	R	294	ENSP00000339637:H294R	ENSP00000339637:H294R	H	-	2	0	BRAT1	2549406	0.998000	0.40836	0.084000	0.20598	0.084000	0.17831	4.559000	0.60796	2.236000	0.73375	0.533000	0.62120	CAC		0.642	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		2	7	0	0	0	0.004672	0	2	7				
CARD11	84433	broad.mit.edu	37	7	2985553	2985553	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:2985553C>A	ENST00000396946.4	-	4	661	c.258G>T	c.(256-258)agG>agT	p.R86S	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	86	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R79S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACATAGCCCCTTTGCCCCT	0.493			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(256-258)AGG>AGT		caspase recruitment domain family, member 11							173.0	177.0	176.0					7																	2985553		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2985553C>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.258G>T	7.37:g.2985553C>A	ENSP00000380150:p.Arg86Ser						p.R86S	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	4	662	-		Ovarian(82;0.0115)	86			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.258G>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805311	0.70682	.	.	ENSG00000198286	ENST00000396946	T	0.21031	2.03	5.42	2.2	0.27929	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.75447	2.3	0.54753	D	0.999985	D	0.69078	0.997	D	0.76071	0.987	T	0.32188	-0.9916	10	0.87932	D	0	-47.2751	9.6236	0.39737	0.0:0.6394:0.0:0.3606	.	86	Q9BXL7	CAR11_HUMAN	S	86	ENSP00000380150:R86S	ENSP00000380150:R86S	R	-	3	2	CARD11	2952079	0.955000	0.32602	0.997000	0.53966	0.998000	0.95712	0.059000	0.14322	0.672000	0.31204	0.655000	0.94253	AGG		0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		78	479	1	0	1.31215e-26	0.00361	2.01296e-26	78	479				
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	G	T	rs142268038		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:4153708G>T	ENST00000404826.2	+	25	3764	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L	SDK1_ENST00000389531.3_Missense_Mutation_p.V1209L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1209	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1209L(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGAGTCCGTGGGCTACAG	0.587																																							uc003smx.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3625-3627)GTG>TTG		sidekick 1 precursor							61.0	60.0	60.0					7																	4153708		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153708G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3625G>T	7.37:g.4153708G>T	ENSP00000385899:p.Val1209Leu					SDK1_uc010kso.2_Missense_Mutation_p.V485L	p.V1209L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	25	3764	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1209			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3625G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108061	0.94292	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56444	0.46;0.46	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.63070	0.2480	L	0.33485	1.01	0.80722	D	1	D;D	0.89917	0.966;1.0	P;D	0.91635	0.8;0.999	T	0.56613	-0.7950	10	0.21540	T	0.41	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	1209;1209	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	L	1209	ENSP00000385899:V1209L;ENSP00000374182:V1209L	ENSP00000374182:V1209L	V	+	1	0	SDK1	4120234	1.000000	0.71417	0.969000	0.41365	0.974000	0.67602	9.357000	0.97099	2.507000	0.84556	0.655000	0.94253	GTG		0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	30	1	0	2.0095e-06	0.001984	2.28208e-06	7	30				
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:11068427A>T	ENST00000403050.3	+	7	1889	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433																																							uc003sry.1		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(2)|skin(1)	3						c.(1435-1437)TCA>TCT		PHD finger protein 14 isoform 2							114.0	108.0	110.0					7																	11068427		1940	4149	6089	SO:0001819	synonymous_variant	9678						zinc ion binding	g.chr7:11068427A>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1437A>T	7.37:g.11068427A>T						PHF14_uc011jxi.1_Silent_p.S194S|PHF14_uc003srz.2_Silent_p.S479S|PHF14_uc011jxj.1_Silent_p.S194S	p.S479S	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	7	1872	+			479					A7MCZ3|B4DI82	Silent	SNP	ENST00000403050.3	37	c.1437A>T	CCDS47542.1																																																																																				0.433	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		15	136	0	0	0	0.00333	0	15	136				
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:11582602C>A	ENST00000423059.4	-	5	1847	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q532H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTCCCTTGCTGATCATTAC	0.388										HNSCC(18;0.044)																													uc003ssf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1594-1596)CAG>CAT		thrombospondin, type I, domain containing 7A							111.0	107.0	109.0					7																	11582602		1906	4122	6028	SO:0001583	missense	221981					integral to membrane		g.chr7:11582602C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1596G>T	7.37:g.11582602C>A	ENSP00000406482:p.Gln532His	HNSCC(18;0.044)					p.Q532H	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	5	1848	-			532			TSP type-1 5.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.1596G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288059	0.40494	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60797	0.16	5.68	-0.359	0.12571	.	0.050998	0.85682	D	0.000000	T	0.46464	0.1394	L	0.54323	1.7	0.42584	D	0.993223	B	0.06786	0.001	B	0.17098	0.017	T	0.22277	-1.0221	10	0.44086	T	0.13	.	7.1857	0.25799	0.1239:0.3332:0.0:0.543	.	532	Q9UPZ6	THS7A_HUMAN	H	532	ENSP00000406482:Q532H	ENSP00000262042:Q532H	Q	-	3	2	THSD7A	11549127	0.239000	0.23836	0.988000	0.46212	0.931000	0.56810	-0.415000	0.07106	-0.274000	0.09232	-0.229000	0.12294	CAG		0.388	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		31	115	1	0	1.22384e-17	0.002836	1.70547e-17	31	115				
DGKB	1607	broad.mit.edu	37	7	14216490	14216490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:14216490C>A	ENST00000403951.2	-	25	2700	c.2281G>T	c.(2281-2283)Gag>Tag	p.E761*	DGKB_ENST00000444700.2_Nonsense_Mutation_p.E742*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.E760*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.E761*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.E761*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.E753*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.E761*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	761					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E761*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ATCCATGGCTCCCCATCAATT	0.393																																							uc003ssz.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2281-2283)GAG>TAG		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						184.0	175.0	178.0					7																	14216490		1920	4141	6061	SO:0001587	stop_gained	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14216490C>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2281G>T	7.37:g.14216490C>A	ENSP00000385780:p.Glu761*					DGKB_uc011jxt.1_Nonsense_Mutation_p.E742*|DGKB_uc003sta.2_Nonsense_Mutation_p.E761*|DGKB_uc011jxu.1_Nonsense_Mutation_p.E760*	p.E761*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			24	2468	-			761					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	c.2281G>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	43	10.163079	0.99350	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	4.4	4.4	0.53042	.	0.159880	0.43747	D	0.000539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1286	0.86721	0.0:1.0:0.0:0.0	.	.	.	.	X	761;761;761;760;753;742;761	.	ENSP00000258767:E761X	E	-	1	0	DGKB	14183015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.463000	0.80869	2.432000	0.82394	0.655000	0.94253	GAG		0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		214	456	1	0	1.62378e-119	0.00361	3.13157e-119	214	456				
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:18067033T>A	ENST00000506618.2	-	1	453	c.373A>T	c.(373-375)Atc>Ttc	p.I125F		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	125					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.I125F(4)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCATGGTGATGATATGATCC	0.463																																							uc003stz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(373-375)ATC>TTC		phosphoribosyl pyrophosphate synthetase 1-like							146.0	144.0	145.0					7																	18067033		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067033T>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.373A>T	7.37:g.18067033T>A	ENSP00000424595:p.Ile125Phe						p.I125F	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	454	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		125					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.373A>T	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547271	0.65311	.	.	ENSG00000229937	ENST00000506618	D	0.91740	-2.9	4.47	3.31	0.37934	.	.	.	.	.	D	0.95198	0.8443	M	0.89163	3.01	.	.	.	D	0.63046	0.992	P	0.59288	0.855	D	0.96551	0.9408	8	0.87932	D	0	.	9.5514	0.39313	0.0:0.0:0.1912:0.8088	.	125	P21108	PRPS3_HUMAN	F	125	ENSP00000424595:I125F	ENSP00000424595:I125F	I	-	1	0	PRPS1L1	18033558	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	4.391000	0.59652	0.857000	0.35407	0.528000	0.53228	ATC		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		144	368	0	0	0	0.00361	0	144	368				
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:21631013C>T	ENST00000409508.3	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R829C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607									Kartagener syndrome																														uc003svc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2485-2487)CGC>TGC		dynein, axonemal, heavy chain 11							44.0	48.0	47.0					7																	21631013		2114	4226	6340	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21631013C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2485C>T	7.37:g.21631013C>T	ENSP00000475939:p.Arg829Cys						p.R829C	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			14	2516	+			829			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2485C>T		.	.	.	.	.	.	.	.	.	.	C	10.97	1.502559	0.26949	.	.	ENSG00000105877	ENST00000328843	T	0.24723	1.84	5.63	5.63	0.86233	.	1.546000	0.03417	N	0.205766	T	0.26991	0.0661	.	.	.	0.09310	N	1	D	0.56968	0.978	B	0.40410	0.328	T	0.35798	-0.9774	9	0.66056	D	0.02	.	12.0181	0.53326	0.2766:0.7234:0.0:0.0	.	829	Q96DT5	DYH11_HUMAN	C	829	ENSP00000330671:R829C	ENSP00000330671:R829C	R	+	1	0	DNAH11	21597538	0.000000	0.05858	0.023000	0.16930	0.005000	0.04900	0.594000	0.24014	2.658000	0.90341	0.561000	0.74099	CGC		0.607	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		28	161	0	0	0	0.002096	0	28	161				
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:23826529C>A	ENST00000355870.3	+	20	2592	c.2473C>A	c.(2473-2475)Cct>Act	p.P825T	STK31_ENST00000354639.3_Missense_Mutation_p.P802T|STK31_ENST00000428484.1_Missense_Mutation_p.P802T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.P825T	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.P825T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCAACATGCCTTTAAATTC	0.368																																							uc003sws.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(2473-2475)CCT>ACT		serine/threonine kinase 31 isoform a							166.0	153.0	157.0					7																	23826529		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23826529C>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2473C>A	7.37:g.23826529C>A	ENSP00000348132:p.Pro825Thr					STK31_uc003swt.3_Missense_Mutation_p.P802T|STK31_uc011jze.1_Missense_Mutation_p.P825T|STK31_uc010kuq.2_Missense_Mutation_p.P802T|STK31_uc003swv.1_5'Flank	p.P825T	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			20	2540	+			825			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2473C>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883948	0.33255	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.74421	-0.84;2.09;-0.84;-0.84	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060064	0.64402	D	0.000003	T	0.81997	0.4941	L	0.56280	1.765	0.47476	D	0.999432	D;D	0.89917	0.999;1.0	D;D	0.77004	0.971;0.989	T	0.81972	-0.0688	10	0.51188	T	0.08	-9.5748	12.2712	0.54708	0.0:0.9213:0.0:0.0787	.	825;825	B4DZ06;Q9BXU1	.;STK31_HUMAN	T	825;825;802;802	ENSP00000348132:P825T;ENSP00000411852:P825T;ENSP00000346660:P802T;ENSP00000406146:P802T	ENSP00000346660:P802T	P	+	1	0	STK31	23793054	0.998000	0.40836	0.997000	0.53966	0.043000	0.13939	4.164000	0.58190	2.559000	0.86315	0.585000	0.79938	CCT		0.368	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		63	521	1	0	4.59617e-45	0.00361	7.91684e-45	63	521				
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27140626G>T	ENST00000222718.5	-	2	1160	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	284					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L284M(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAATGTTTCAGATTTTTCTCA	0.498																																							uc003syh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(850-852)CTG>ATG		homeobox A2							96.0	97.0	97.0					7																	27140626		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140626G>T		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.850C>A	7.37:g.27140626G>T	ENSP00000222718:p.Leu284Met						p.L284M	NM_006735	NP_006726	O43364	HXA2_HUMAN			2	1125	-			284					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.850C>A	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615452	0.46631	.	.	ENSG00000105996	ENST00000222718	T	0.10005	2.92	4.98	4.09	0.47781	.	0.000000	0.64402	D	0.000001	T	0.26412	0.0645	M	0.81942	2.565	0.51767	D	0.999939	P	0.37663	0.604	P	0.49708	0.62	T	0.01476	-1.1345	10	0.42905	T	0.14	.	12.4409	0.55623	0.0835:0.0:0.9165:0.0	.	284	O43364	HXA2_HUMAN	M	284	ENSP00000222718:L284M	ENSP00000222718:L284M	L	-	1	2	HOXA2	27107151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.528000	0.81941	1.199000	0.43173	0.650000	0.86243	CTG		0.498	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			20	77	1	0	2.39556e-15	0.00278	3.19803e-15	20	77				
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27196029C>G	ENST00000242159.3	-	1	269	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P	RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'Flank	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622																																							uc003sys.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(136-138)GCC>CCC		homeobox A7							36.0	49.0	44.0					7																	27196029		2195	4297	6492	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196029C>G		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.136G>C	7.37:g.27196029C>G	ENSP00000242159:p.Ala46Pro						p.A46P	NM_006896	NP_008827	P31268	HXA7_HUMAN			1	268	-			46					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.136G>C	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589438	0.28357	.	.	ENSG00000122592	ENST00000242159	T	0.34472	1.36	5.32	4.45	0.53987	.	0.191100	0.45867	D	0.000333	T	0.28466	0.0704	L	0.41573	1.285	0.49213	D	0.999761	B	0.23650	0.089	B	0.18561	0.022	T	0.07028	-1.0794	10	0.42905	T	0.14	.	10.1261	0.42649	0.0:0.7917:0.136:0.0722	.	46	P31268	HXA7_HUMAN	P	46	ENSP00000242159:A46P	ENSP00000242159:A46P	A	-	1	0	HOXA7	27162554	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	2.973000	0.49264	1.400000	0.46741	-0.215000	0.12644	GCC		0.622	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			6	12	0	0	0	0.001984	0	6	12				
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	C	G	rs563879011		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:29980415C>G	ENST00000426154.1	-	5	798	c.622G>C	c.(622-624)Gct>Cct	p.A208P	SCRN1_ENST00000434476.2_Missense_Mutation_p.A228P|SCRN1_ENST00000425819.2_Missense_Mutation_p.A140P|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.A208P|SCRN1_ENST00000409497.1_Missense_Mutation_p.A208P	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	208					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.A228P(2)|p.A208P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGGCTCTGAGCGTAACTCCTG	0.527																																							uc010kvp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(622-624)GCT>CCT		secernin 1 isoform c							148.0	148.0	148.0					7																	29980415		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29980415C>G	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.622G>C	7.37:g.29980415C>G	ENSP00000409068:p.Ala208Pro					SCRN1_uc011jzy.1_Missense_Mutation_p.A140P|SCRN1_uc003tak.2_Missense_Mutation_p.A208P|SCRN1_uc011jzz.1_Missense_Mutation_p.A208P|SCRN1_uc011kaa.1_Missense_Mutation_p.A228P|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.A31P	p.A208P	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN			4	826	-			208					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.622G>C	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088492	0.94100	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	5.58	5.58	0.84498	.	0.080873	0.51477	D	0.000092	T	0.66297	0.2775	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.77843	-0.2437	9	.	.	.	-14.4768	18.1279	0.89592	0.0:1.0:0.0:0.0	.	228;228;208	C9JPG0;B4DHM0;Q12765	.;.;SCRN1_HUMAN	P	208;208;140;12;208;228;208	ENSP00000242059:A208P;ENSP00000409068:A208P;ENSP00000414245:A140P;ENSP00000386872:A208P;ENSP00000388942:A228P;ENSP00000413184:A208P	.	A	-	1	0	SCRN1	29946940	1.000000	0.71417	0.966000	0.40874	0.843000	0.47879	7.463000	0.80869	2.619000	0.88677	0.591000	0.81541	GCT		0.527	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		31	154	0	0	0	0.009718	0	31	154				
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:33545221G>A	ENST00000242067.6	+	20	2783	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	BBS9_ENST00000354265.4_Silent_p.A719A|BBS9_ENST00000396127.2_Silent_p.A719A|BBS9_ENST00000355070.2_Silent_p.A749A|BBS9_ENST00000350941.3_Silent_p.A714A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	754	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A754A(4)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGAAGCGGCATTTCTGC	0.498									Bardet-Biedl syndrome																														uc003tdn.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2260-2262)GCG>GCA		parathyroid hormone-responsive B1 isoform 2							68.0	63.0	65.0					7																	33545221		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33545221G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2262G>A	7.37:g.33545221G>A						BBS9_uc003tdo.1_Silent_p.A719A|BBS9_uc003tdp.1_Silent_p.A749A|BBS9_uc003tdq.1_Silent_p.A714A|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.A278A|BBS9_uc003tds.1_Silent_p.A177A|BBS9_uc003tdt.2_RNA	p.A754A	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		20	2775	+			754					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.2262G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843296	0.16963	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.61	-4.17	0.03857	.	.	.	.	.	T	0.47116	0.1428	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.42816	-0.9429	4	.	.	.	-15.7841	5.4697	0.16662	0.4969:0.0:0.1984:0.3047	.	.	.	.	S	321	.	.	G	+	1	0	BBS9	33511746	0.010000	0.17322	0.933000	0.37362	0.911000	0.54048	-1.163000	0.03138	-0.718000	0.04949	-0.367000	0.07326	GGC		0.498	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			15	141	0	0	0	0.006122	0	15	141				
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	C	A	rs369438919		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:36396906C>A	ENST00000297063.6	-	3	522	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	KIAA0895_ENST00000436884.1_Missense_Mutation_p.V7L|KIAA0895_ENST00000317020.6_Missense_Mutation_p.V107L|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.V145L|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000338533.5_Missense_Mutation_p.V145L|KIAA0895_ENST00000440378.1_Missense_Mutation_p.V107L	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	158								p.V158L(2)|p.V145L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCTTGTCACAGGCACCAGG	0.473																																							uc003tfd.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(472-474)GTG>TTG		hypothetical protein LOC23366 isoform 1							96.0	90.0	92.0					7																	36396906		1960	4135	6095	SO:0001583	missense	23366							g.chr7:36396906C>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.472G>T	7.37:g.36396906C>A	ENSP00000297063:p.Val158Leu					KIAA0895_uc003tfc.2_Missense_Mutation_p.V145L|KIAA0895_uc011kaw.1_Missense_Mutation_p.V7L|KIAA0895_uc003tfb.2_Missense_Mutation_p.V107L|KIAA0895_uc011kax.1_Missense_Mutation_p.V107L|KIAA0895_uc003tfe.2_Missense_Mutation_p.V145L|KIAA0895_uc011kay.1_Missense_Mutation_p.V107L	p.V158L	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN			3	523	-			158					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.472G>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.162816	0.00318	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803	.	.	.	6.04	3.1	0.35709	.	1.165250	0.05992	N	0.646190	T	0.27866	0.0686	N	0.16368	0.405	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.001;0.0	T	0.08700	-1.0709	9	0.09338	T	0.73	-0.456	11.6187	0.51104	0.1781:0.6215:0.2004:0.0	.	107;107;7;145;158;145;107	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	L	158;145;107;107;7;145	.	ENSP00000297063:V158L	V	-	1	0	KIAA0895	36363431	0.000000	0.05858	0.045000	0.18777	0.025000	0.11179	0.232000	0.17891	1.507000	0.48752	0.563000	0.77884	GTG		0.473	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		19	60	1	0	4.26978e-12	0.00333	5.41239e-12	19	60				
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:37780650C>A	ENST00000447769.1	+	4	944	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GPR141_ENST00000334425.1_Missense_Mutation_p.Q219K|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTATCCCACCAGGAGTTCTG	0.418																																							uc003tfm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(655-657)CAG>AAG		G protein-coupled receptor 141							178.0	174.0	175.0					7																	37780650		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780650C>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.655C>A	7.37:g.37780650C>A	ENSP00000390410:p.Gln219Lys					uc003tfl.2_Intron	p.Q219K	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	655	+			219			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.655C>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605182	0.87157	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.35973	1.28;1.28	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.066582	0.64402	D	0.000008	T	0.51466	0.1676	M	0.72894	2.215	0.80722	D	1	D	0.59357	0.985	P	0.61070	0.883	T	0.48906	-0.8993	10	0.02654	T	1	-20.3443	17.615	0.88065	0.0:1.0:0.0:0.0	.	219	Q7Z602	GP141_HUMAN	K	219	ENSP00000390410:Q219K;ENSP00000334540:Q219K	ENSP00000334540:Q219K	Q	+	1	0	GPR141	37747175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.289000	0.78701	2.777000	0.95525	0.655000	0.94253	CAG		0.418	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		122	533	1	0	9.13576e-48	0.00361	1.58883e-47	122	533				
HECW1	23072	broad.mit.edu	37	7	43283518	43283518	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:43283518T>A	ENST00000395891.2	+	3	619	c.14T>A	c.(13-15)cTg>cAg	p.L5Q	AC004692.4_ENST00000457315.1_RNA|AC004692.4_ENST00000458590.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.L5Q|AC004692.4_ENST00000458680.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	5					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L5Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCTGCACCTGTGTAGTGTG	0.448																																							uc003tid.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(13-15)CTG>CAG		NEDD4-like ubiquitin-protein ligase 1							239.0	237.0	238.0					7																	43283518		2083	4219	6302	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43283518T>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.14T>A	7.37:g.43283518T>A	ENSP00000379228:p.Leu5Gln					HECW1_uc011kbi.1_Missense_Mutation_p.L5Q|HECW1_uc003tie.1_Intron	p.L5Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			3	619	+			5					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.14T>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	15.45	2.838261	0.51057	.	.	ENSG00000002746	ENST00000395891;ENST00000453890	T;T	0.37235	1.21;1.21	4.67	4.67	0.58626	.	0.947807	0.08643	U	0.915241	T	0.54046	0.1834	L	0.40543	1.245	0.45108	D	0.998125	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.41910	-0.9482	10	0.72032	D	0.01	.	14.1181	0.65167	0.0:0.0:0.0:1.0	.	5;5	B4DH42;Q76N89	.;HECW1_HUMAN	Q	5	ENSP00000379228:L5Q;ENSP00000407774:L5Q	ENSP00000379228:L5Q	L	+	2	0	HECW1	43250043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.021000	0.70832	1.742000	0.51746	0.460000	0.39030	CTG		0.448	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		175	373	0	0	0	0.00361	0	175	373				
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:45011815C>G	ENST00000258787.7	-	6	764	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G210R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTCACTGCCTCTCAGCAAC	0.507																																							uc003tmh.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|pancreas(1)	4						c.(628-630)GGC>CGC		myosin IG							193.0	168.0	176.0					7																	45011815		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45011815C>G	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.628G>C	7.37:g.45011815C>G	ENSP00000258787:p.Gly210Arg					MYO1G_uc003tmg.2_5'UTR|MYO1G_uc010kym.2_Missense_Mutation_p.G95R|MYO1G_uc003tmi.1_Missense_Mutation_p.G122R|MYO1G_uc003tmj.2_5'UTR	p.G210R	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			6	772	-			210			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.628G>C	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146870	0.77888	.	.	ENSG00000136286	ENST00000258787	T	0.77229	-1.08	4.61	4.61	0.57282	Myosin head, motor domain (2);	0.000000	0.41396	D	0.000887	D	0.87884	0.6290	M	0.81614	2.55	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.79784	0.993;0.823	D	0.89220	0.3570	10	0.66056	D	0.02	.	15.333	0.74229	0.0:1.0:0.0:0.0	.	210;210	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	R	210	ENSP00000258787:G210R	ENSP00000258787:G210R	G	-	1	0	MYO1G	44978340	0.998000	0.40836	0.600000	0.28864	0.827000	0.46813	5.294000	0.65687	2.542000	0.85734	0.655000	0.94253	GGC		0.507	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			8	21	0	0	0	0.006214	0	8	21				
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:48452087G>T	ENST00000435803.1	+	41	12390	c.12366G>T	c.(12364-12366)aaG>aaT	p.K4122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4122					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K4067N(2)|p.K4122N(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGACAAGGCCTGCTTGA	0.493																																							uc003toq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(12364-12366)AAG>AAT		ATP binding cassette, sub-family A (ABC1),							85.0	81.0	82.0					7																	48452087		1968	4164	6132	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48452087G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12366G>T	7.37:g.48452087G>T	ENSP00000411096:p.Lys4122Asn					ABCA13_uc010kys.1_Missense_Mutation_p.K1196N|ABCA13_uc010kyt.1_RNA	p.K4122N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			41	12391	+			4122					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12366G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791199	0.16258	.	.	ENSG00000179869	ENST00000435803	T	0.74632	-0.86	4.98	-3.54	0.04653	.	0.559660	0.15755	N	0.246258	T	0.60843	0.2300	L	0.41415	1.275	0.09310	N	1	P;P	0.38922	0.646;0.651	B;B	0.39094	0.29;0.273	T	0.56378	-0.7989	10	0.54805	T	0.06	.	8.8512	0.35201	0.3391:0.1024:0.5585:0.0	.	1824;4122	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	4122	ENSP00000411096:K4122N	ENSP00000411096:K4122N	K	+	3	2	ABCA13	48422633	0.001000	0.12720	0.000000	0.03702	0.245000	0.25701	0.037000	0.13840	-0.615000	0.05679	0.555000	0.69702	AAG		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		63	324	1	0	1.07941e-43	0.00361	1.84457e-43	63	324				
CDC14C	168448	broad.mit.edu	37	7	48964294	48964294	+	IGR	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:48964294C>A								AC004899.1 (73073 upstream) : AC010971.1 (305438 downstream)																							CTGCAGGACCCGCGCCGCCGG	0.632																																							uc010kyv.1		NA																	0					0						c.(25-27)CCG>CAG		SubName: Full=Putative uncharacterized protein MGC26484;																																				SO:0001628	intergenic_variant	168448							g.chr7:48964294C>A																													7.37:g.48964294C>A							p.P9Q	NR_003595						1	138	+									Missense_Mutation	SNP		37	c.26C>A																																																																																				0	0.632									14	10	1	0	1.49906e-05	0.00245	1.6725e-05	14	10				
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:50596906C>A	ENST00000444124.2	-	5	770	c.570G>T	c.(568-570)caG>caT	p.Q190H	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Splice_Site_p.Q190H|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Intron|DDC_ENST00000426377.1_Splice_Site_p.Q112H|DDC_ENST00000357936.5_Splice_Site_p.Q190H	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	190					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.Q190H(4)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	ACACACTCACCTGATCGGATG	0.512																																							uc003tpf.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(568-570)CAG>CAT		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						89.0	84.0	86.0					7																	50596906		2203	4300	6503	SO:0001630	splice_region_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50596906C>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.570+1G>T	7.37:g.50596906C>A						DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.Q190H	p.Q190H	NM_000790	NP_000781	P20711	DDC_HUMAN			5	656	-	Glioma(55;0.08)|all_neural(89;0.245)		190					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.570G>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441191	0.43326	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.95	0.854	0.19007	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.210858	0.50627	D	0.000107	T	0.53061	0.1773	M	0.79258	2.445	0.58432	D	0.999994	P	0.52842	0.956	P	0.56343	0.796	T	0.52049	-0.8627	9	.	.	.	-39.7736	8.2707	0.31842	0.0:0.5781:0.0:0.4219	.	190	P20711	DDC_HUMAN	H	190;112;190;190	ENSP00000350616:Q190H;ENSP00000395069:Q112H;ENSP00000403644:Q190H;ENSP00000370371:Q190H	.	Q	-	3	2	DDC	50564400	0.904000	0.30761	0.997000	0.53966	0.271000	0.26615	-0.030000	0.12308	0.284000	0.22305	0.655000	0.94253	CAG		0.512	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1		Missense_Mutation	80	177	1	0	4.00701e-44	0.00361	6.86916e-44	80	177				
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:51096651C>A	ENST00000265136.7	-	10	2307	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N	COBL_ENST00000395542.2_Missense_Mutation_p.K796N	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	714					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.K714N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCATCTCTGACTTTGGAGGAA	0.522																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(2140-2142)AAG>AAT		cordon-bleu homolog							120.0	100.0	107.0					7																	51096651		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096651C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2142G>T	7.37:g.51096651C>A	ENSP00000265136:p.Lys714Asn					COBL_uc003tps.2_Missense_Mutation_p.K771N|COBL_uc011kcl.1_Missense_Mutation_p.K714N|COBL_uc003tpp.3_Missense_Mutation_p.K500N|COBL_uc003tpq.3_Missense_Mutation_p.K655N|COBL_uc003tpo.3_Missense_Mutation_p.K256N	p.K714N	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2327	-	Glioma(55;0.08)		714					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2142G>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.939000|2.939000	0.52972|0.52972	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000457306|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	.|T;T;T;T	.|0.42900	.|1.02;0.96;1.05;1.04	5.83|5.83	-3.87|-3.87	0.04218|0.04218	.|.	.|0.418507	.|0.20394	.|N	.|0.093185	.|T	.|0.49677	.|0.1571	L|L	0.47190|0.47190	1.495|1.495	0.20307|0.20307	N|N	0.999913|0.999913	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;0.998;0.999;0.999	.|D;D;D;D;D	.|0.71656	.|0.974;0.956;0.957;0.935;0.964	.|T	.|0.50550	.|-0.8815	.|10	.|0.34782	.|T	.|0.22	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.1923:0.0:0.8077|0.0:0.1923:0.0:0.8077	.|.	.|714;771;714;796;256	.|O75128-3;O75128-7;O75128;O75128-2;O75128-6	.|.;.;COBL_HUMAN;.;.	.|N	-1|714;606;599;796	.|ENSP00000265136:K714N;ENSP00000401204:K606N;ENSP00000413498:K599N;ENSP00000378912:K796N	.|ENSP00000265136:K714N	.|K	-|-	.|3	.|2	COBL|COBL	51064145|51064145	0.960000|0.960000	0.32886|0.32886	0.009000|0.009000	0.14445|0.14445	0.324000|0.324000	0.28378|0.28378	-0.074000|-0.074000	0.11450|0.11450	-0.635000|-0.635000	0.05531|0.05531	-0.136000|-0.136000	0.14681|0.14681	.|AAG		0.522	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		42	70	1	0	1.51926e-22	0.00361	2.23847e-22	42	70				
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:51111277C>A	ENST00000265136.7	-	8	1374	c.1209G>T	c.(1207-1209)acG>acT	p.T403T	COBL_ENST00000395542.2_Silent_p.T485T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	403					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.T403T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGTCCTCGGTCGTGTCCTCCG	0.607																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)	5						c.(1207-1209)ACG>ACT		cordon-bleu homolog							125.0	100.0	108.0					7																	51111277		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51111277C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1209G>T	7.37:g.51111277C>A						COBL_uc003tps.2_Silent_p.T460T|COBL_uc011kcl.1_Silent_p.T403T|COBL_uc010kzc.2_Silent_p.T403T|COBL_uc003tpp.3_Silent_p.T189T|COBL_uc003tpq.3_Silent_p.T344T	p.T403T	NM_015198	NP_056013	O75128	COBL_HUMAN			8	1394	-	Glioma(55;0.08)		403					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1209G>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	2.146	-0.395624	0.04899	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.50632	D	0.999886	.	.	.	.	.	.	T	0.71679	-0.4520	4	.	.	.	.	13.857	0.63534	0.0:0.0862:0.161:0.7528	.	.	.	.	Y	379	.	.	D	-	1	0	COBL	51078771	0.006000	0.16342	0.002000	0.10522	0.367000	0.29736	-2.552000	0.00927	-3.054000	0.00259	-0.793000	0.03317	GAC		0.607	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		51	95	1	0	2.41709e-19	0.00361	3.43481e-19	51	95				
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:54617601A>T	ENST00000407838.3	+	4	778	c.372A>T	c.(370-372)ttA>ttT	p.L124F	VSTM2A_ENST00000302287.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.L124F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.L123F	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	124	Ig-like V-type.					extracellular region (GO:0005576)		p.L124F(2)|p.L123F(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGGCTTATATGAGTGCA	0.468																																							uc010kzf.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(370-372)TTA>TTT		V-set and transmembrane domain containing 2							55.0	54.0	54.0					7																	54617601		2203	4300	6503	SO:0001583	missense	222008					extracellular region		g.chr7:54617601A>T	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.372A>T	7.37:g.54617601A>T	ENSP00000384967:p.Leu124Phe					VSTM2A_uc010kze.2_Missense_Mutation_p.L124F|VSTM2A_uc003tqc.3_Missense_Mutation_p.L124F	p.L124F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	777	+			124			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.372A>T	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936476	0.73442	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.36	-2.87	0.05700	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.71213	0.3313	L	0.54323	1.7	0.38604	D	0.95072	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.70055	-0.4977	10	0.66056	D	0.02	-14.9455	8.117	0.30948	0.3008:0.1543:0.5449:0.0	.	124;124;124	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	F	124;124;124;123;124	ENSP00000303108:L124F;ENSP00000384967:L124F;ENSP00000384701:L124F;ENSP00000385933:L123F;ENSP00000384103:L124F	ENSP00000303108:L124F	L	+	3	2	VSTM2A	54585095	0.505000	0.26131	0.913000	0.36048	0.969000	0.65631	-0.300000	0.08243	-0.526000	0.06383	0.533000	0.62120	TTA		0.468	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		8	24	0	0	0	0.008291	0	8	24				
SEPT14	346288	broad.mit.edu	37	7	55929665	55929665	+	Missense_Mutation	SNP	G	G	T	rs368346447		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:55929665G>T	ENST00000388975.3	-	2	141	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	9					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.P9T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTGTGGGCATAGCCATT	0.284																																							uc003tqz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)CCC>ACC		septin 14							63.0	55.0	57.0					7																	55929665		1811	4068	5879	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55929665G>T	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.25C>A	7.37:g.55929665G>T	ENSP00000373627:p.Pro9Thr						p.P9T	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	142	-	Breast(14;0.214)		9					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.25C>A	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	g	3.065	-0.192334	0.06259	.	.	ENSG00000154997	ENST00000388975	T	0.49432	0.78	2.13	-1.42	0.08913	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15037	-1.0451	9	0.51188	T	0.08	.	5.6129	0.17416	0.4664:0.0:0.5336:0.0	.	9	Q6ZU15	SEP14_HUMAN	T	9	ENSP00000373627:P9T	ENSP00000373627:P9T	P	-	1	0	SEPT14	55897159	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.727000	0.01860	-0.407000	0.07576	0.467000	0.42956	CCC		0.284	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		3	29	1	0	0.00024832	0.009096	0.000270348	3	29				
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:55991322G>T	ENST00000429591.2	+	3	236	c.198G>T	c.(196-198)gaG>gaT	p.E66D	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.E66D	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E66D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			gtaagccaGAGGTAATCGCGC	0.453																																							uc003trc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(196-198)GAG>GAT		zinc finger protein 713							84.0	71.0	76.0					7																	55991322		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:55991322G>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.198G>T	7.37:g.55991322G>T	ENSP00000416662:p.Glu66Asp					ZNF713_uc003tra.1_Missense_Mutation_p.E79D|MRPS17_uc003trb.2_Missense_Mutation_p.E66D	p.E66D	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	236	+	Breast(14;0.214)		66			KRAB.			Missense_Mutation	SNP	ENST00000429591.2	37	c.198G>T	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.425115	0.01126	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	T;T	0.00717	5.79;5.79	3.35	0.381	0.16228	Krueppel-associated box (3);	0.194179	0.25425	N	0.030761	T	0.00356	0.0011	N	0.02420	-0.555	0.21878	N	0.999494	B	0.18863	0.031	B	0.11329	0.006	T	0.44605	-0.9317	10	0.19590	T	0.45	.	3.4504	0.07496	0.2493:0.2161:0.5346:0.0	.	66	Q8N859	ZN713_HUMAN	D	66	ENSP00000390331:E66D;ENSP00000416662:E66D	ENSP00000390331:E66D	E	+	3	2	RP11-15K19.2;ZNF713	55958816	0.255000	0.24002	0.801000	0.32222	0.277000	0.26821	-0.320000	0.08028	0.064000	0.16427	0.561000	0.74099	GAG		0.453	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		13	73	1	0	1.3612e-06	0.003163	1.55074e-06	13	73				
ZNF680	340252	broad.mit.edu	37	7	63982636	63982636	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:63982636A>G	ENST00000309683.6	-	4	647	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	166					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.F166L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTTGAAAATTTATGAAAG	0.299																																							uc003tta.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)TTT>CTT		zinc finger protein 680 isoform 1							37.0	37.0	37.0					7																	63982636		2202	4291	6493	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982636A>G	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.496T>C	7.37:g.63982636A>G	ENSP00000309330:p.Phe166Leu					ZNF680_uc010kzr.2_Missense_Mutation_p.F93L	p.F166L	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			4	669	-		Lung NSC(55;0.118)|all_lung(88;0.243)	166					B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.496T>C	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	a	5.866	0.343883	0.11126	.	.	ENSG00000173041	ENST00000309683	T	0.35236	1.32	1.09	-0.95	0.10372	.	.	.	.	.	T	0.23965	0.0580	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24261	-1.0165	9	0.30854	T	0.27	.	3.2695	0.06876	0.5506:0.4494:0.0:0.0	.	166	Q8NEM1	ZN680_HUMAN	L	166	ENSP00000309330:F166L	ENSP00000309330:F166L	F	-	1	0	ZNF680	63620071	0.000000	0.05858	0.019000	0.16419	0.018000	0.09664	-1.771000	0.01789	0.413000	0.25759	0.402000	0.26972	TTT		0.299	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		5	71	0	0	0	0.000602	0	5	71				
RABGEF1	27342	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:66264318G>T	ENST00000284957.5	+	7	814	c.737G>T	c.(736-738)cGc>cTc	p.R246L	KCTD7_ENST00000451741.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R260L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R259L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R246L|KCTD7_ENST00000380828.2_Missense_Mutation_p.R286L|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	463	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.R246L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAGCCCTGCGCTGGGTTACG	0.493																																							uc011kee.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(778-780)CGC>CTC		RAB guanine nucleotide exchange factor (GEF) 1							117.0	98.0	105.0					7																	66264318		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66264318G>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.737G>T	7.37:g.66264318G>T	ENSP00000284957:p.Arg246Leu					RABGEF1_uc003tvf.2_Missense_Mutation_p.R119L|RABGEF1_uc003tvg.2_Missense_Mutation_p.R54L|RABGEF1_uc010lag.2_Missense_Mutation_p.R246L|RABGEF1_uc003tvh.2_Missense_Mutation_p.R246L|RABGEF1_uc003tvi.2_Missense_Mutation_p.R80L	p.R260L	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			7	943	+			463			VPS9.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.779G>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.318647	0.60524	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.58	3.23	0.37069	Vacuolar sorting protein 9 (1);	0.084315	0.85682	D	0.000000	T	0.22322	0.0538	L	0.29908	0.895	0.27630	N	0.948052	B;B;B	0.25007	0.089;0.027;0.116	B;B;B	0.30105	0.018;0.023;0.111	T	0.15636	-1.0430	10	0.36615	T	0.2	-10.1732	9.1042	0.36687	0.8482:0.0:0.1518:0.0	.	260;80;463	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	L	330;286;246;246;162;246;246;259;260	ENSP00000370208:R286L;ENSP00000421124:R246L;ENSP00000398177:R246L;ENSP00000284957:R246L;ENSP00000415815:R246L;ENSP00000403429:R259L;ENSP00000390480:R260L	ENSP00000370207:R330L	R	+	2	0	RABGEF1;KCTD7	65901753	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.601000	0.67606	0.506000	0.28125	-0.322000	0.08575	CGC		0.493	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		42	108	1	0	6.31075e-24	0.00361	9.4399e-24	42	108				
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Splice_Site	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:83640407T>C	ENST00000265362.4	-	9	1240	c.926A>G	c.(925-927)cAg>cGg	p.Q309R	SEMA3A_ENST00000436949.1_Splice_Site_p.Q309R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	309	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.Q309R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAATACATCCTCTGTTTAAAA	0.313																																							uc003uhz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|kidney(1)	4						c.(925-927)CAG>CGG		semaphorin 3A precursor							58.0	61.0	60.0					7																	83640407		2203	4300	6503	SO:0001630	splice_region_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83640407T>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.926-1A>G	7.37:g.83640407T>C							p.Q309R	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			9	1241	-			309			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.926A>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663991	0.47572	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.14766	2.48;2.48	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.053037	0.85682	D	0.000000	T	0.16214	0.0390	L	0.52364	1.645	0.80722	D	1	B	0.23316	0.083	B	0.29353	0.101	T	0.07558	-1.0766	10	0.13108	T	0.6	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	309	Q14563	SEM3A_HUMAN	R	309	ENSP00000265362:Q309R;ENSP00000415260:Q309R	ENSP00000265362:Q309R	Q	-	2	0	SEMA3A	83478343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.945000	0.70226	2.287000	0.76781	0.482000	0.46254	CAG		0.313	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	Missense_Mutation	24	46	0	0	0	0.003954	0	24	46				
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:86415735C>T	ENST00000361669.2	+	3	1726	c.627C>T	c.(625-627)aaC>aaT	p.N209N	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Silent_p.N81N|GRM3_ENST00000394720.2_Silent_p.N207N|GRM3_ENST00000439827.1_Silent_p.N209N|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	209					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.N209N(2)		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)					GCTTCTTCAACTGGACCTACG	0.572																																					GBM(52;969 1098 3139 52280)	GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(625-627)AAC>AAT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						88.0	77.0	81.0					7																	86415735		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415735C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.627C>T	7.37:g.86415735C>T						GRM3_uc010lef.2_Silent_p.N207N|GRM3_uc010leg.2_Silent_p.N81N|GRM3_uc010leh.2_Intron	p.N209N	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1726	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		209			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.627C>T	CCDS5600.1																																																																																				0.572	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			29	154	0	0	0	0.002096	0	29	154				
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:87011391G>T	ENST00000331536.3	+	12	1249	c.1064G>T	c.(1063-1065)gGt>gTt	p.G355V	CROT_ENST00000419147.2_Splice_Site_p.G383V|CROT_ENST00000442291.1_Splice_Site_p.G355V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	355					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.G355V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TATTTTCAGGGTTCAGAGAAG	0.333																																							uc003uit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(1063-1065)GGT>GTT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						65.0	65.0	65.0					7																	87011391		2203	4298	6501	SO:0001630	splice_region_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87011391G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1063-1G>T	7.37:g.87011391G>T						CROT_uc003uiu.2_Missense_Mutation_p.G383V	p.G355V	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			12	1309	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		355					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.1064G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465259	0.84425	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89415	-2.51;-2.51;-2.51	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.94013	0.8082	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.94131	0.7388	10	0.66056	D	0.02	-20.0496	19.3145	0.94206	0.0:0.0:1.0:0.0	.	383;355	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	383;355;355	ENSP00000413575:G383V;ENSP00000331981:G355V;ENSP00000411983:G355V	ENSP00000331981:G355V	G	+	2	0	CROT	86849327	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.407000	0.97325	2.642000	0.89623	0.467000	0.42956	GGT		0.333	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	Missense_Mutation	88	170	1	0	3.59239e-61	0.00361	6.55368e-61	88	170				
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:87913403C>T	ENST00000380079.4	-	2	283	c.182G>A	c.(181-183)gGt>gAt	p.G61D	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G61D|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G61D	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	61					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.G61D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GACTTCTGCACCACTGGGCAG	0.438																																							uc003ujs.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(181-183)GGT>GAT		tumor necrosis factor, alpha-induced protein 9							111.0	105.0	107.0					7																	87913403		1856	4093	5949	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913403C>T	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.182G>A	7.37:g.87913403C>T	ENSP00000369419:p.Gly61Asp					STEAP4_uc010lek.2_Missense_Mutation_p.G61D|STEAP4_uc003ujt.2_Missense_Mutation_p.G61D	p.G61D	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	287	-	Esophageal squamous(14;0.00802)		61					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.182G>A	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088223	0.20390	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.19532	2.14;2.14;2.14	5.92	5.05	0.67936	NAD(P)-binding domain (1);	0.142496	0.64402	N	0.000005	T	0.25975	0.0633	M	0.75150	2.29	0.43579	D	0.995915	B;B;B	0.28258	0.003;0.205;0.092	B;B;B	0.33890	0.011;0.172;0.172	T	0.08046	-1.0741	10	0.44086	T	0.13	-4.9599	6.8233	0.23868	0.1434:0.703:0.0:0.1537	.	61;61;61	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	D	61	ENSP00000369419:G61D;ENSP00000305545:G61D;ENSP00000394399:G61D	ENSP00000305545:G61D	G	-	2	0	STEAP4	87751339	0.055000	0.20627	0.714000	0.30535	0.456000	0.32438	0.656000	0.24948	1.521000	0.48983	0.655000	0.94253	GGT		0.438	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		20	128	0	0	0	0.00278	0	20	128				
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:88963931G>T	ENST00000333190.4	+	4	2244	c.1635G>T	c.(1633-1635)tgG>tgT	p.W545C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545							metal ion binding (GO:0046872)	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCGGATTGGGAAAAATTCC	0.353										HNSCC(36;0.09)																													uc011khi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1633-1635)TGG>TGT		zinc finger protein 804B							44.0	47.0	46.0					7																	88963931		2201	4296	6497	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963931G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1635G>T	7.37:g.88963931G>T	ENSP00000329638:p.Trp545Cys	HNSCC(36;0.09)					p.W545C	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2173	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		545					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1635G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118570	0.20877	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.49	5.49	0.81192	.	0.623115	0.16072	N	0.230924	T	0.15565	0.0375	M	0.65975	2.015	0.49483	D	0.999793	D	0.71674	0.998	P	0.57324	0.818	T	0.00354	-1.1794	10	0.62326	D	0.03	-0.6441	5.907	0.19006	0.1484:0.1687:0.6829:0.0	.	545	A4D1E1	Z804B_HUMAN	C	545	ENSP00000329638:W545C	ENSP00000329638:W545C	W	+	3	0	ZNF804B	88801867	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	1.378000	0.34328	2.865000	0.98341	0.655000	0.94253	TGG		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		40	105	1	0	3.50607e-19	0.00361	4.97576e-19	40	105				
SLC25A13	10165	broad.mit.edu	37	7	95750587	95750587	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:95750587T>A	ENST00000265631.5	-	18	2080	c.1944A>T	c.(1942-1944)gcA>gcT	p.A648A	SLC25A13_ENST00000542654.1_Silent_p.A540A|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000416240.2_Silent_p.A649A			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	648					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.A648A(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTTCAATCCCTGCAAATGTAG	0.498																																							uc003uof.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.(1942-1944)GCA>GCT		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						111.0	107.0	108.0					7																	95750587		2203	4300	6503	SO:0001819	synonymous_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95750587T>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1944A>T	7.37:g.95750587T>A						SLC25A13_uc003uog.3_Silent_p.A649A|SLC25A13_uc011kik.1_Silent_p.A540A	p.A648A	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		18	2135	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		648					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	c.1944A>T	CCDS5645.1																																																																																				0.498	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		13	386	0	0	0	0.00245	0	13	386				
OCM2	4951	broad.mit.edu	37	7	97617832	97617832	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:97617832G>A	ENST00000257627.4	-	2	181	c.90C>T	c.(88-90)ttC>ttT	p.F30F	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	30							calcium ion binding (GO:0005509)			lung(4)	4						ACGTCTGGAAGAATTTTTGGG	0.468																																							uc003upc.2		NA																	0					0						c.(88-90)TTC>TTT		oncomodulin-like							158.0	155.0	156.0					7																	97617832		2203	4300	6503	SO:0001819	synonymous_variant	4951						calcium ion binding	g.chr7:97617832G>A	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.90C>T	7.37:g.97617832G>A							p.F30F	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			2	90	-			30					P32930|Q6ISI5|Q75MW0	Silent	SNP	ENST00000257627.4	37	c.90C>T	CCDS5653.1																																																																																				0.468	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		7	452	0	0	0	0.001984	0	7	452				
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:98633309A>C	ENST00000361125.1	-	17	2237	c.1918T>G	c.(1918-1920)Ttg>Gtg	p.L640V	AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.L614V	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	640	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.L640V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTCGTTCAAGTCTATTTTA	0.522																																							uc003upu.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|lung(1)	4						c.(1918-1920)TTG>GTG		Smad ubiquitination regulatory factor 1 isoform							62.0	61.0	61.0					7																	98633309		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98633309A>C	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1918T>G	7.37:g.98633309A>C	ENSP00000354621:p.Leu640Val					SMURF1_uc003upv.1_Missense_Mutation_p.L614V|SMURF1_uc003upt.2_Missense_Mutation_p.L614V|TRRAP_uc003ups.2_RNA	p.L640V	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		17	2238	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		640			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1918T>G	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	A	0.312	-0.967004	0.02232	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.55588	0.51;0.51	5.37	-5.64	0.02466	HECT (4);	0.198106	0.44097	N	0.000493	T	0.14098	0.0341	N	0.01824	-0.7	0.25833	N	0.984142	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.27905	-1.0060	10	0.02654	T	1	.	5.17	0.15105	0.5304:0.097:0.2797:0.0929	.	614;640;614	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	V	614;640	ENSP00000355326:L614V;ENSP00000354621:L640V	ENSP00000354621:L640V	L	-	1	2	SMURF1	98471245	0.691000	0.27709	0.005000	0.12908	0.807000	0.45602	-0.177000	0.09796	-1.780000	0.01279	-1.151000	0.01829	TTG		0.522	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		5	40	0	0	0	0.001984	0	5	40				
ZAN	7455	broad.mit.edu	37	7	100382441	100382441	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100382441T>C	ENST00000348028.3	+	0	6983				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H2272H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGATGCCCATGGTGGCTCCA	0.582																																							uc003uwj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(6817-6819)CAT>CAC		zonadhesin isoform 3							46.0	47.0	47.0					7																	100382441		2168	4272	6440			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100382441T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100382441T>C						ZAN_uc003uwk.2_Silent_p.H2273H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.H323H	p.H2273H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		37	6984	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2273			VWFC 4.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6819T>C																																																																																					0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	52	0	0	0	0.001984	0	5	52				
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100678604G>T	ENST00000306151.4	+	3	3971	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1303	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.V1303F(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACACTAA	0.458																																							uc003uxp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3907-3909)GTT>TTT		mucin 17 precursor							244.0	234.0	237.0					7																	100678604		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678604G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3907G>T	7.37:g.100678604G>T	ENSP00000302716:p.Val1303Phe					MUC17_uc010lho.1_RNA	p.V1303F	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3960	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1303			Extracellular (Potential).|Ser-rich.|19.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3907G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.428	-0.571125	0.03882	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.471	-0.823	0.10815	.	.	.	.	.	T	0.01592	0.0051	N	0.24115	0.695	0.09310	N	1	P	0.42993	0.797	B	0.31191	0.125	T	0.47923	-0.9079	8	0.41790	T	0.15	.	.	.	.	.	1303	Q685J3	MUC17_HUMAN	F	1303	ENSP00000302716:V1303F	ENSP00000302716:V1303F	V	+	1	0	MUC17	100465324	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-1.870000	0.01641	-0.330000	0.08514	0.134000	0.15878	GTT		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		130	357	1	0	1.18812e-89	0.00361	2.25911e-89	130	357				
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100680895A>C	ENST00000306151.4	+	3	6262	c.6198A>C	c.(6196-6198)acA>acC	p.T2066T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2066	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2066T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.488																																							uc003uxp.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6196-6198)ACA>ACC		mucin 17 precursor							171.0	166.0	168.0					7																	100680895		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680895A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6198A>C	7.37:g.100680895A>C						MUC17_uc010lho.1_RNA	p.T2066T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6251	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2066			Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6198A>C	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		53	263	0	0	0	0.00361	0	53	263				
SLC26A3	1811	broad.mit.edu	37	7	107432382	107432382	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:107432382A>G	ENST00000340010.5	-	4	459	c.275T>C	c.(274-276)tTa>tCa	p.L92S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L57S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATGCTAAACCTGTAAA	0.423																																							uc003ver.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(274-276)TTA>TCA		solute carrier family 26, member 3							95.0	78.0	84.0					7																	107432382		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432382A>G	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.275T>C	7.37:g.107432382A>G	ENSP00000345873:p.Leu92Ser					SLC26A3_uc003ves.2_Missense_Mutation_p.L57S	p.L92S	NM_000111	NP_000102	P40879	S26A3_HUMAN			4	486	-			92			Helical; (Potential).			Missense_Mutation	SNP	ENST00000340010.5	37	c.275T>C	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271415	0.80469	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.93247	-3.19;-3.19;-3.19	5.56	5.56	0.83823	.	0.068956	0.64402	D	0.000017	D	0.97942	0.9323	H	0.97611	4.04	0.58432	D	0.999995	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.984	D	0.99453	1.0941	10	0.87932	D	0	.	15.7138	0.77652	1.0:0.0:0.0:0.0	.	57;92	G5E9U3;P40879	.;S26A3_HUMAN	S	57;92;92	ENSP00000415817:L57S;ENSP00000345873:L92S;ENSP00000395955:L92S	ENSP00000345873:L92S	L	-	2	0	SLC26A3	107219618	0.998000	0.40836	1.000000	0.80357	0.734000	0.41952	8.932000	0.92897	2.112000	0.64535	0.383000	0.25322	TTA		0.423	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		10	213	0	0	0	0.006214	0	10	213				
TSPAN12	23554	broad.mit.edu	37	7	120428789	120428789	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:120428789G>C	ENST00000222747.3	-	8	1382	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	TSPAN12_ENST00000415871.1_Missense_Mutation_p.Q259E	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	259					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GACATCATTTGGTCTGTCCCC	0.468																																							uc003vjk.2		NA																	0					0						c.(775-777)CAA>GAA		transmembrane 4 superfamily member 12							119.0	117.0	118.0					7																	120428789		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120428789G>C	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.775C>G	7.37:g.120428789G>C	ENSP00000222747:p.Gln259Glu					TSPAN12_uc010lkj.2_Missense_Mutation_p.Q132E	p.Q259E	NM_012338	NP_036470	O95859	TSN12_HUMAN			8	1149	-	all_neural(327;0.117)		259			Cytoplasmic (Potential).		A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.775C>G	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725661	0.48833	.	.	ENSG00000106025	ENST00000222747;ENST00000415871	T;T	0.53423	0.62;0.62	5.68	5.68	0.88126	.	0.355680	0.30293	N	0.009952	T	0.34861	0.0912	N	0.14661	0.345	0.43536	D	0.995825	B	0.25105	0.118	B	0.19391	0.025	T	0.08066	-1.0740	10	0.32370	T	0.25	-7.5241	19.7821	0.96420	0.0:0.0:1.0:0.0	.	259	O95859	TSN12_HUMAN	E	259	ENSP00000222747:Q259E;ENSP00000397699:Q259E	ENSP00000222747:Q259E	Q	-	1	0	TSPAN12	120216025	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.918000	0.87506	2.682000	0.91365	0.655000	0.94253	CAA		0.468	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		10	605	0	0	0	0.001368	0	10	605				
CPED1	79974	broad.mit.edu	37	7	120911454	120911455	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:120911454_120911455AC>TA	ENST00000310396.5	+	22	3305_3306	c.2838_2839AC>TA	c.(2836-2841)ctACag>ctTAag	p.Q947K		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	947						endoplasmic reticulum (GO:0005783)		p.L946L(1)|p.Q947K(1)									AAGAGTTTCTACAGGGGAAGTG	0.327																																							uc003vjq.3		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2836-2841)CTACAG>CTTAAG		hypothetical protein LOC79974 isoform 1																																				SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120911454_120911455AC>TA		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	Exception_encountered	7.37:g.120911454_120911455delinsTA	ENSP00000309772:p.Gln947Lys						p.Q947K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			22	3285_3286	+	all_neural(327;0.117)		947					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	DNP	ENST00000310396.5	37	c.2838_2839AC>TA	CCDS34739.1																																																																																				0.327	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		213	424	0	0	0	0.004672	0	213	424				
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:121623757C>G	ENST00000393386.2	+	7	1069	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L220V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	220	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L220V(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTGAACCTTCTGCCAAA	0.393																																							uc003vjy.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(658-660)CTT>GTT		protein tyrosine phosphatase, receptor-type,							180.0	164.0	169.0					7																	121623757		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121623757C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.658C>G	7.37:g.121623757C>G	ENSP00000377047:p.Leu220Val					PTPRZ1_uc003vjz.2_Missense_Mutation_p.L220V	p.L220V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			7	1053	+			220			Extracellular (Potential).|Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.658C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201938	0.79127	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.76060	-0.99;-0.99	5.62	5.62	0.85841	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000005	D	0.88459	0.6442	M	0.84433	2.695	0.47476	D	0.999435	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	D	0.89300	0.3625	10	0.87932	D	0	.	20.011	0.97449	0.0:1.0:0.0:0.0	.	220;220	C9JFM0;P23471	.;PTPRZ_HUMAN	V	220	ENSP00000377047:L220V;ENSP00000410000:L220V	ENSP00000377047:L220V	L	+	1	0	PTPRZ1	121410993	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.185000	0.77714	2.813000	0.96785	0.543000	0.68304	CTT		0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		140	298	0	0	0	0.00361	0	140	298				
ASB15	142685	broad.mit.edu	37	7	123257663	123257664	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:123257663_123257664CC>AA	ENST00000451558.1	+	9	844_845	c.323_324CC>AA	c.(322-324)aCC>aAA	p.T108K	ASB15_ENST00000275699.3_Missense_Mutation_p.T108K|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T108K|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T108K|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.T108K|RP11-390E23.3_ENST00000429396.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAATTCAAGACCTGTGATGGAG	0.386																																							uc003vku.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|lung(1)	3						c.(322-324)ACC>AAA		ankyrin repeat and SOCS box-containing 15																																				SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123257663_123257664CC>AA	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	Exception_encountered	7.37:g.123257663_123257664delinsAA	ENSP00000397655:p.Thr108Lys					ASB15_uc003vkv.1_Missense_Mutation_p.T108K|ASB15_uc003vkw.1_Missense_Mutation_p.T108K	p.T108K	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			7	615_616	+			108					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	DNP	ENST00000451558.1	37	c.323_324CC>AA	CCDS34742.1																																																																																				0.386	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			77	224	0	0	0	0.004672	0	77	224				
SSU72P8	136157	broad.mit.edu	37	7	124116525	124116525	+	IGR	SNP	G	G	T	rs201786412		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:124116525G>T								RP5-921G16.1 (81353 upstream) : RNU6-102P (171247 downstream)																							CTAAGTGTCCGGTCTTTCGGA	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21224	0.0		0.0	False		,,,				2504	0.0						uc011kod.1		NA																	0					NA						c.(100-102)CGG>CTG		RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;		G		0,3902		0,0,1951	101.0	97.0	98.0			0.1	0.0	7		98	3,8305		0,3,4151	no	intergenic				0,3,6102	TT,TG,GG		0.0361,0.0,0.0246			124116525	3,12207	1951	4154	6105	SO:0001628	intergenic_variant	0							g.chr7:124116525G>T																													7.37:g.124116525G>T							p.R34L	NM_001085395	NP_001078864					1	101	+									Missense_Mutation	SNP		37	c.101G>T																																																																																				0	0.498									34	195	1	0	1.90571e-15	0.004289	2.54723e-15	34	195				
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000480995.1_5'Flank|GRM8_ENST00000444921.2_Silent_p.T789T|GRM8_ENST00000358373.3_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGATGCAGGTGGTATACATGG	0.408										HNSCC(24;0.065)																													uc003vlr.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2365-2367)ACC>ACT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						132.0	116.0	122.0					7																	126173069		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173069G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2367C>T	7.37:g.126173069G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T789T|GRM8_uc010lkz.1_RNA	p.T789T	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2678	-		Prostate(267;0.186)	789			Helical; Name=6; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2367C>T	CCDS5794.1																																																																																				0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			17	193	0	0	0	0.010504	0	17	193				
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173340G>T	ENST00000339582.2	-	9	2904	c.2096C>A	c.(2095-2097)aCc>aAc	p.T699N	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.T699N|GRM8_ENST00000358373.3_Missense_Mutation_p.T699N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	699					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.T699N(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAGGCTGAAGGTGATCACCAG	0.498										HNSCC(24;0.065)																													uc003vlr.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2095-2097)ACC>AAC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						91.0	73.0	79.0					7																	126173340		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173340G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2096C>A	7.37:g.126173340G>T	ENSP00000344173:p.Thr699Asn	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T699N|GRM8_uc010lkz.1_RNA	p.T699N	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2407	-		Prostate(267;0.186)	699			Helical; Name=4; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2096C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645720	0.87958	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88201	-2.35;-2.35;-2.35	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.85945	2.785	0.80722	D	1	D;D	0.61080	0.989;0.979	P;P	0.60345	0.836;0.873	D	0.94440	0.7657	10	0.59425	D	0.04	.	19.0835	0.93192	0.0:0.0:1.0:0.0	.	699;699	O00222-2;O00222	.;GRM8_HUMAN	N	699	ENSP00000344173:T699N;ENSP00000409790:T699N;ENSP00000351142:T699N	ENSP00000344173:T699N	T	-	2	0	GRM8	125960576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	ACC		0.498	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			50	86	1	0	3.21867e-24	0.00361	4.84821e-24	50	86				
GRM8	2918	broad.mit.edu	37	7	126173694	126173694	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173694G>T	ENST00000339582.2	-	9	2550	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S581Y|GRM8_ENST00000358373.3_Missense_Mutation_p.S581Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	581					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S581Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGCCCAGGGAGAATGCCACTC	0.512										HNSCC(24;0.065)																													uc003vlr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1741-1743)TCT>TAT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						140.0	121.0	128.0					7																	126173694		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173694G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1742C>A	7.37:g.126173694G>T	ENSP00000344173:p.Ser581Tyr	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S581Y|GRM8_uc010lkz.1_RNA	p.S581Y	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2053	-		Prostate(267;0.186)	581			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1742C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256818	0.80246	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89617	-2.46;-2.46;-2.54	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	M	0.91972	3.26	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.83275	0.996;0.942	D	0.96261	0.9191	10	0.87932	D	0	.	19.0428	0.93008	0.0:0.0:1.0:0.0	.	581;581	O00222-2;O00222	.;GRM8_HUMAN	Y	581	ENSP00000344173:S581Y;ENSP00000409790:S581Y;ENSP00000351142:S581Y	ENSP00000344173:S581Y	S	-	2	0	GRM8	125960930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.758000	0.94735	0.643000	0.83706	TCT		0.512	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			13	136	1	0	2.61681e-11	0.00245	3.2597e-11	13	136				
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	C	A	rs116868322		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128450286C>A	ENST00000297788.4	+	12	2261	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.Q632K(4)|p.Q748K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACAGAACCAAGACTGTGT	0.468																																							uc003vnv.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(2)	2						c.(1894-1896)CAA>AAA		coiled-coil domain containing 136							55.0	55.0	55.0					7																	128450286		1962	4155	6117	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128450286C>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1894C>A	7.37:g.128450286C>A	ENSP00000297788:p.Gln632Lys					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.Q448K|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Missense_Mutation_p.Q242K	p.Q632K	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			12	2261	+			632					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1894C>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124305	0.77436	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T;T	0.32988	1.43;1.43	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000007	T	0.51753	0.1693	M	0.66939	2.045	0.25893	N	0.983451	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.995	T	0.47971	-0.9075	10	0.15499	T	0.54	-16.7425	15.9221	0.79583	0.0:1.0:0.0:0.0	.	632;632	Q96JN2-2;Q96JN2	.;CC136_HUMAN	K	632;632;632;223	ENSP00000297788:Q632K;ENSP00000417991:Q223K	ENSP00000297788:Q632K	Q	+	1	0	CCDC136	128237522	0.915000	0.31059	0.169000	0.22859	0.331000	0.28603	3.498000	0.53302	2.832000	0.97577	0.655000	0.94253	CAA		0.468	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		30	25	1	0	2.47316e-13	0.003271	3.21035e-13	30	25				
TNPO3	23534	broad.mit.edu	37	7	128658125	128658125	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128658125C>T	ENST00000265388.5	-	2	350	c.207G>A	c.(205-207)atG>atA	p.M69I	TNPO3_ENST00000482320.1_Missense_Mutation_p.M3I|TNPO3_ENST00000471166.1_Missense_Mutation_p.M69I|TNPO3_ENST00000393245.1_Missense_Mutation_p.M69I|TNPO3_ENST00000471234.1_Missense_Mutation_p.M69I			Q9Y5L0	TNPO3_HUMAN	transportin 3	69					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCTGAATCTTCATTTTCATGG	0.453																																					Pancreas(147;583 2585 39696 52331)	Pancreas(147;583 2585 39696 52331)	uc003vol.1		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(205-207)ATG>ATA		transportin 3							140.0	128.0	132.0					7																	128658125		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128658125C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.207G>A	7.37:g.128658125C>T	ENSP00000265388:p.Met69Ile					TNPO3_uc003vom.1_Missense_Mutation_p.M3I|TNPO3_uc010lly.1_Missense_Mutation_p.M69I|TNPO3_uc010llz.1_Missense_Mutation_p.M69I	p.M69I	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			2	581	-			69					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.207G>A	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510242	0.64522	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.53	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.071002	0.85682	N	0.000000	T	0.44582	0.1300	N	0.11427	0.14	0.46725	D	0.999173	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.31998	-0.9923	10	0.14656	T	0.56	.	12.2566	0.54627	0.0:0.9171:0.0:0.0829	.	69;69;69	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	I	69;69;3;69;69	ENSP00000376936:M69I;ENSP00000265388:M69I;ENSP00000420089:M3I;ENSP00000418646:M69I;ENSP00000418267:M69I	ENSP00000265388:M69I	M	-	3	0	TNPO3	128445361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.986000	0.70563	1.477000	0.48234	0.655000	0.94253	ATG		0.453	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		6	290	0	0	0	0.001984	0	6	290				
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128806740C>A	ENST00000289407.4	+	6	690	c.581C>A	c.(580-582)cCt>cAt	p.P194H	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	194					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.P194H(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGCCTACTCCTGACCAGGTG	0.557																																							uc003vop.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(580-582)CCT>CAT		tetraspanin 33							229.0	204.0	212.0					7																	128806740		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128806740C>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.581C>A	7.37:g.128806740C>A	ENSP00000289407:p.Pro194His					TSPAN33_uc003voq.1_Missense_Mutation_p.P26H	p.P194H	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			6	810	+			194			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289407.4	37	c.581C>A	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364244	0.61513	.	.	ENSG00000158457	ENST00000289407	T	0.32753	1.44	5.68	5.68	0.88126	Tetraspanin, EC2 domain (1);	0.360205	0.28493	N	0.015152	T	0.42223	0.1193	M	0.76838	2.35	0.80722	D	1	B	0.22800	0.075	B	0.35312	0.2	T	0.40534	-0.9558	10	0.66056	D	0.02	-36.4452	12.2558	0.54623	0.1697:0.8303:0.0:0.0	.	194	Q86UF1	TSN33_HUMAN	H	194	ENSP00000289407:P194H	ENSP00000289407:P194H	P	+	2	0	TSPAN33	128593976	0.000000	0.05858	0.975000	0.42487	0.737000	0.42083	0.485000	0.22324	2.663000	0.90544	0.655000	0.94253	CCT		0.557	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		38	131	1	0	1.465e-08	0.00874	1.73487e-08	38	131				
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:131866251G>A	ENST00000359827.3	-	18	4343	c.3381C>T	c.(3379-3381)tcC>tcT	p.S1127S	PLXNA4_ENST00000321063.4_Silent_p.S1127S			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.S1127S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGAGCAGGGACTGGACGT	0.602																																							uc003vra.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(3379-3381)TCC>TCT		plexin A4 isoform 1							160.0	167.0	165.0					7																	131866251		1968	4156	6124	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866251G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3381C>T	7.37:g.131866251G>A							p.S1127S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			18	3610	-			1127			Extracellular (Potential).|IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3381C>T	CCDS43646.1																																																																																				0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		49	211	0	0	0	0.00361	0	49	211				
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:137600584C>A	ENST00000330387.6	-	3	845	c.494G>T	c.(493-495)gGg>gTg	p.G165V	CREB3L2_ENST00000452463.1_Splice_Site_p.G165V|CREB3L2_ENST00000458726.1_Splice_Site_p.G102V|CREB3L2_ENST00000456390.1_Splice_Site_p.G165V	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	165					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.G165V(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGCATACCCCAGTGTTCAT	0.458			T	FUS	fibromyxoid sarcoma																																		uc003vtw.2		NA		Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	2	Substitution - Missense(2)		lung(2)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(493-495)GGG>GTG		cAMP responsive element binding protein 3-like							91.0	94.0	93.0					7																	137600584		2203	4300	6503	SO:0001630	splice_region_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137600584C>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.495+1G>T	7.37:g.137600584C>A						CREB3L2_uc003vtx.1_Missense_Mutation_p.G165V|CREB3L2_uc003vty.3_Missense_Mutation_p.G165V|CREB3L2_uc003vtv.2_Missense_Mutation_p.G102V	p.G165V	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			3	889	-			165			Cytoplasmic (Potential).		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.494G>T	CCDS34760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.716952|1.716952	0.30413|0.30413	.|.	.|.	ENSG00000182158|ENSG00000182158	ENST00000330387;ENST00000417785;ENST00000456390;ENST00000452463;ENST00000458726;ENST00000420629|ENST00000544877	T;T;T;T;T|.	0.63580|.	0.37;-0.05;0.94;0.92;0.87|.	6.17|6.17	4.03|4.03	0.46877|0.46877	.|.	0.407307|.	0.25288|.	N|.	0.031755|.	T|T	0.44787|0.44787	0.1310|0.1310	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999989|0.999989	P;P;B|.	0.42296|.	0.775;0.617;0.267|.	B;B;B|.	0.42282|.	0.382;0.242;0.086|.	T|T	0.47420|0.47420	-0.9119|-0.9119	10|6	0.22109|0.87932	T|D	0.4|0	1.0183|1.0183	4.9646|4.9646	0.14083|0.14083	0.1903:0.5972:0.1291:0.0833|0.1903:0.5972:0.1291:0.0833	.|.	165;165;165|.	Q70SY1-3;Q70SY1-2;Q70SY1|.	.;.;CR3L2_HUMAN|.	V|C	165;165;165;165;102;158|149	ENSP00000329140:G165V;ENSP00000403550:G165V;ENSP00000410314:G165V;ENSP00000388917:G102V;ENSP00000402889:G158V|.	ENSP00000329140:G165V|ENSP00000443915:W149C	G|W	-|-	2|3	0|0	CREB3L2|CREB3L2	137251124|137251124	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	1.270000|1.270000	0.33086|0.33086	1.585000|1.585000	0.49928|0.49928	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.458	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	Missense_Mutation	73	151	1	0	7.63117e-38	0.00361	1.26406e-37	73	151				
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T	rs376045291		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141734530G>T	ENST00000549489.2	+	16	1943	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000475668.2_Silent_p.A616A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498																																							uc003vwy.2		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(2)	2						c.(1846-1848)GCG>GCT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						92.0	86.0	88.0					7																	141734530		1972	4179	6151	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141734530G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1848G>T	7.37:g.141734530G>T							p.A616A	NM_004668	NP_004659	O43451	MGA_HUMAN			16	1902	+	Melanoma(164;0.0272)		616			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.1848G>T	CCDS47727.1																																																																																				0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			22	181	1	0	1.42536e-11	0.004656	1.78583e-11	22	181				
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141755465C>A	ENST00000549489.2	+	28	3517	c.3422C>A	c.(3421-3423)tCc>tAc	p.S1141Y	MGAM_ENST00000475668.2_Missense_Mutation_p.S1141Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1141	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1141Y(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCACAGGTCCTATAGGAGA	0.542																																							uc003vwy.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(2)	2						c.(3421-3423)TCC>TAC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						101.0	93.0	95.0					7																	141755465		1900	4116	6016	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141755465C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3422C>A	7.37:g.141755465C>A	ENSP00000447378:p.Ser1141Tyr						p.S1141Y	NM_004668	NP_004659	O43451	MGA_HUMAN			28	3476	+	Melanoma(164;0.0272)		1141			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3422C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172407	0.21704	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.85556	-2.0	3.74	3.74	0.42951	Glycoside hydrolase-type carbohydrate-binding (1);	.	.	.	.	D	0.86192	0.5874	M	0.81239	2.535	0.09310	N	1	P	0.51791	0.948	P	0.44673	0.457	T	0.79507	-0.1775	9	0.66056	D	0.02	.	10.4711	0.44638	0.1953:0.8047:0.0:0.0	.	1141	O43451	MGA_HUMAN	Y	1141;1141;1018	ENSP00000447378:S1141Y	ENSP00000316431:S1018Y	S	+	2	0	MGAM	141401934	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.433000	0.21477	1.626000	0.50381	0.461000	0.40582	TCC		0.542	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			41	93	1	0	4.86159e-25	0.00361	7.3951e-25	41	93				
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141765177C>A	ENST00000549489.2	+	38	4622	c.4527C>A	c.(4525-4527)acC>acA	p.T1509T	MGAM_ENST00000475668.2_Silent_p.T1509T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1509	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.T1509T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGTCATCACCCGCTCCACAT	0.597																																							uc003vwy.2		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(2)	2						c.(4525-4527)ACC>ACA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						51.0	56.0	54.0					7																	141765177		2043	4180	6223	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765177C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4527C>A	7.37:g.141765177C>A							p.T1509T	NM_004668	NP_004659	O43451	MGA_HUMAN			38	4581	+	Melanoma(164;0.0272)		1509			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4527C>A	CCDS47727.1																																																																																				0.597	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			15	14	1	0	1.02788e-11	0.00499	1.29233e-11	15	14				
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142625790G>T	ENST00000265310.1	-	6	1106	c.758C>A	c.(757-759)aCt>aAt	p.T253N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T253N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	253					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.T253N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTTACCACAGTGTTACCCTC	0.577																																							uc003wby.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(757-759)ACT>AAT		transient receptor potential cation channel,							83.0	76.0	78.0					7																	142625790		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625790G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.758C>A	7.37:g.142625790G>T	ENSP00000265310:p.Thr253Asn					TRPV5_uc003wbz.2_Missense_Mutation_p.T253N	p.T253N	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			6	1022	-	Melanoma(164;0.059)		253			ANK 5.|Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.758C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489586	0.44249	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;T;D	0.84298	-1.83;0.88;-1.83	3.98	3.98	0.46160	Ankyrin repeat-containing domain (3);	0.545245	0.20998	N	0.081906	D	0.91922	0.7442	M	0.86178	2.8	0.35288	D	0.781949	P;D	0.69078	0.904;0.997	P;D	0.66602	0.536;0.945	D	0.93964	0.7243	10	0.35671	T	0.21	-15.8958	15.5736	0.76359	0.0:0.0:1.0:0.0	.	253;253	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	N	253;247;253	ENSP00000265310:T253N;ENSP00000406361:T247N;ENSP00000406572:T253N	ENSP00000265310:T253N	T	-	2	0	TRPV5	142335912	0.989000	0.36119	0.956000	0.39512	0.575000	0.36095	2.210000	0.42816	2.217000	0.71921	0.462000	0.41574	ACT		0.577	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		8	36	1	0	0.00185496	0.001855	0.00196215	8	36				
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:144097391G>A	ENST00000467773.1	-	5	858	c.859C>T	c.(859-861)Cta>Tta	p.L287L	NOBOX_ENST00000483238.1_Silent_p.L287L|NOBOX_ENST00000223140.5_Silent_p.L202L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	287					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L287L(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCTCTAGCTCCTCCAGC	0.507																																							uc011kue.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(859-861)CTA>TTA		NOBOX oogenesis homeobox							74.0	68.0	70.0					7																	144097391		1908	4144	6052	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097391G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.859C>T	7.37:g.144097391G>A							p.L287L	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			5	859	-	Melanoma(164;0.14)		287			Homeobox.		A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.859C>T																																																																																					0.507	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		26	48	0	0	0	0.002445	0	26	48				
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:147259322C>A	ENST00000361727.3	+	12	2386	c.1870C>A	c.(1870-1872)Cct>Act	p.P624T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	624	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P624T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTCTGGGGCCTCTGAAAGT	0.413										HNSCC(39;0.1)																													uc003weu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1870-1872)CCT>ACT		cell recognition molecule Caspr2 precursor							108.0	107.0	107.0					7																	147259322		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259322C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1870C>A	7.37:g.147259322C>A	ENSP00000354778:p.Pro624Thr	HNSCC(39;0.1)					p.P624T	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2386	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	624			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1870C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621403	0.87460	.	.	ENSG00000174469	ENST00000361727	T	0.14516	2.5	5.93	5.93	0.95920	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.64402	D	0.000002	T	0.50188	0.1601	M	0.93550	3.43	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.61451	-0.7060	10	0.87932	D	0	.	18.9092	0.92475	0.0:1.0:0.0:0.0	.	624	Q9UHC6	CNTP2_HUMAN	T	624	ENSP00000354778:P624T	ENSP00000354778:P624T	P	+	1	0	CNTNAP2	146890255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.797000	0.96272	0.655000	0.94253	CCT		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			124	284	1	0	9.82225e-59	0.00361	1.77096e-58	124	284				
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:150500824C>T	ENST00000484928.1	+	5	1040	c.459C>T	c.(457-459)atC>atT	p.I153I	TMEM176A_ENST00000461345.1_Silent_p.I94I|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000004103.3_Silent_p.I153I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	153					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.I153I(2)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCGCATCTCCAGCTCGA	0.512																																							uc003whx.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(457-459)ATC>ATT		hepatocellular carcinoma-associated antigen 112							64.0	67.0	66.0					7																	150500824		2203	4300	6503	SO:0001819	synonymous_variant	55365					integral to membrane		g.chr7:150500824C>T	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.459C>T	7.37:g.150500824C>T						TMEM176B_uc003whw.3_5'Flank	p.I153I	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	537	+			153					D3DX00|Q9NYC7	Silent	SNP	ENST00000484928.1	37	c.459C>T	CCDS5909.1																																																																																				0.512	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		26	55	0	0	0	0.008361	0	26	55				
SMARCD3	6604	broad.mit.edu	37	7	150939644	150939644	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:150939644C>A	ENST00000262188.8	-	5	912	c.502G>T	c.(502-504)Gcg>Tcg	p.A168S	SMARCD3_ENST00000477169.1_5'UTR|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.A155S|SMARCD3_ENST00000392811.2_Missense_Mutation_p.A155S	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A155S(2)|p.A168S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGGCTTCGCAGGGTTAAAA	0.577																																							uc003wjs.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|lung(1)	2						c.(502-504)GCG>TCG		SWI/SNF related, matrix associated, actin							111.0	119.0	116.0					7																	150939644		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150939644C>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.502G>T	7.37:g.150939644C>A	ENSP00000262188:p.Ala168Ser					SMARCD3_uc003wjt.2_Missense_Mutation_p.A155S|SMARCD3_uc003wju.2_Missense_Mutation_p.A155S|SMARCD3_uc011kvh.1_Missense_Mutation_p.A168S|SMARCD3_uc010lqa.1_Missense_Mutation_p.A168S	p.A168S	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	603	-			168					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.502G>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606680	0.46527	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.42513	0.97;0.97;0.97	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.48174	1.505	0.80722	D	1	D;B;D;B	0.63880	0.993;0.07;0.99;0.038	D;B;D;B	0.72625	0.978;0.061;0.971;0.013	T	0.41680	-0.9495	10	0.14252	T	0.57	-7.0585	15.1553	0.72735	0.0:1.0:0.0:0.0	.	168;168;155;168	B7Z4U8;B7ZA58;Q6STE5-2;Q6STE5	.;.;.;SMRD3_HUMAN	S	168;155;155;120	ENSP00000262188:A168S;ENSP00000376558:A155S;ENSP00000349254:A155S	ENSP00000262188:A168S	A	-	1	0	SMARCD3	150570577	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.647000	0.83462	2.410000	0.81850	0.563000	0.77884	GCG		0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		18	46	1	0	1.2644e-06	0.010504	1.44656e-06	18	46				
KMT2C	58508	broad.mit.edu	37	7	151962159	151962159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:151962159C>A	ENST00000262189.6	-	8	1366	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	KMT2C_ENST00000355193.2_Missense_Mutation_p.W383L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	383					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W383L(2)									AGGACATTGCCAACCTGCACG	0.438																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1147-1149)TGG>TTG		myeloid/lymphoid or mixed-lineage leukemia 3							365.0	330.0	342.0					7																	151962159		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962159C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1148G>T	7.37:g.151962159C>A	ENSP00000262189:p.Trp383Leu						p.W383L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1367	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	383			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1148G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398232	0.62177	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99552	-6.15;-6.15	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.39834	U	0.001254	D	0.99701	0.9886	M	0.92459	3.31	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.97544	1.0088	10	0.54805	T	0.06	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	383	Q8NEZ4	MLL3_HUMAN	L	383	ENSP00000262189:W383L;ENSP00000347325:W383L	ENSP00000262189:W383L	W	-	2	0	MLL3	151593092	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	TGG		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			28	907	1	0	2.12542e-12	0.00632	2.71651e-12	28	907				
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:154775016C>A	ENST00000404141.1	-	5	505	c.351G>T	c.(349-351)ctG>ctT	p.L117L	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.L117L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	117	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.L83L(2)|p.L117L(2)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCAAAGCCCACAGGGCACTTC	0.423																																							uc003wlp.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(349-351)CTG>CTT		PAX interacting protein 1							49.0	47.0	48.0					7																	154775016		1866	4106	5972	SO:0001819	synonymous_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154775016C>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.351G>T	7.37:g.154775016C>A						PAXIP1_uc003wlq.1_Silent_p.L83L|PAXIP1_uc011kvs.1_Silent_p.L81L|PAXIP1_uc003wlr.1_Silent_p.L26L	p.L117L	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	5	394	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	117			BRCT 2.|Interaction with PA1 (By similarity).		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	c.351G>T	CCDS47753.1																																																																																				0.423	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		4	77	1	0	2.0095e-06	0.001984	2.28208e-06	4	77				
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:2967787C>A	ENST00000520002.1	-	44	7059	c.6504G>T	c.(6502-6504)ccG>ccT	p.P2168P	CSMD1_ENST00000537824.1_Silent_p.P2167P|CSMD1_ENST00000400186.3_Silent_p.P2168P|CSMD1_ENST00000602557.1_Silent_p.P2168P|CSMD1_ENST00000602723.1_Silent_p.P2168P|CSMD1_ENST00000542608.1_Silent_p.P2167P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2168	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P2167P(2)|p.P1896P(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCAGGATCGGATACTCAT	0.502																																							uc011kwk.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(6502-6504)CCG>CCT		CUB and Sushi multiple domains 1 precursor							89.0	90.0	90.0					8																	2967787		1937	4155	6092	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2967787C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6504G>T	8.37:g.2967787C>A						CSMD1_uc011kwj.1_Silent_p.P1560P|CSMD1_uc010lrg.2_Silent_p.P236P	p.P2168P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	43	6894	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2168			Extracellular (Potential).|CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.6504G>T		.	.	.	.	.	.	.	.	.	.	C	0.586	-0.834863	0.02713	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.45196	0.1330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	.	7.7802	0.29060	0.0645:0.1442:0.5045:0.2869	.	.	.	.	Y	1648	.	.	D	-	1	0	CSMD1	2955194	0.019000	0.18553	0.001000	0.08648	0.083000	0.17756	-1.473000	0.02339	-3.222000	0.00211	-0.476000	0.04901	GAT		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	23	1	0	3.07112e-06	0.000978	3.48404e-06	8	23				
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:6338368C>T	ENST00000344683.5	+	11	2183	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	703	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.R703C(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAATTGCGCGTGGCTGCTG	0.512																																					Colon(95;1448 1467 8277 34473 35819)	Colon(95;1448 1467 8277 34473 35819)	uc003wqi.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(2107-2109)CGT>TGT		microcephalin							102.0	100.0	101.0					8																	6338368		2034	4189	6223	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6338368C>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2107C>T	8.37:g.6338368C>T	ENSP00000342924:p.Arg703Cys						p.R703C	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	11	2175	+		Hepatocellular(245;0.0663)	703			BRCT 2.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.2107C>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922565	0.52653	.	.	ENSG00000147316	ENST00000344683	T	0.29142	1.58	5.91	4.12	0.48240	BRCT (4);	0.182829	0.49916	D	0.000123	T	0.48370	0.1496	M	0.90252	3.1	0.80722	D	1	D	0.65815	0.995	P	0.51516	0.672	T	0.54282	-0.8317	10	0.87932	D	0	-7.2535	7.4313	0.27128	0.2953:0.6284:0.0:0.0764	.	703	Q8NEM0	MCPH1_HUMAN	C	703	ENSP00000342924:R703C	ENSP00000342924:R703C	R	+	1	0	MCPH1	6325776	0.610000	0.26983	0.009000	0.14445	0.303000	0.27691	1.245000	0.32790	0.835000	0.34877	0.655000	0.94253	CGT		0.512	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		15	100	0	0	0	0.006122	0	15	100				
PINX1	54984	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:10690446C>A	ENST00000314787.3	-	3	297	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	SOX7_ENST00000554914.1_Missense_Mutation_p.V60L|SOX7_ENST00000553390.1_Missense_Mutation_p.V60L|PINX1_ENST00000426190.2_Missense_Mutation_p.V58L|PINX1_ENST00000520018.2_5'UTR|PINX1_ENST00000519088.1_Missense_Mutation_p.V60L	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	60	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)	p.V60L(2)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTATTTTTCACTTGAACTTTA	0.448																																							uc011kwz.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(178-180)GTG>TTG		SRY-box 7							136.0	123.0	127.0					8																	10690446		1930	4130	6060	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10690446C>A	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.178G>T	8.37:g.10690446C>A	ENSP00000318966:p.Val60Leu					PINX1_uc003wth.2_Missense_Mutation_p.V60L|PINX1_uc003wti.2_Missense_Mutation_p.V60L	p.V60L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	3	211	-			Error:Variant_position_missing_in_Q9BT81_after_alignment					B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.178G>T	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815311	0.70912	.	.	ENSG00000171056;ENSG00000258724;ENSG00000254093;ENSG00000254093;ENSG00000254093;ENSG00000254093	ENST00000553390;ENST00000554914;ENST00000314787;ENST00000426190;ENST00000519088;ENST00000524114	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.23	5.23	0.72850	D111/G-patch (3);	0.062225	0.64402	D	0.000006	T	0.27384	0.0672	N	0.17901	0.54	0.52501	D	0.99995	B;B;P	0.41978	0.434;0.076;0.767	B;B;P	0.45610	0.121;0.084;0.487	T	0.01805	-1.1270	10	0.27082	T	0.32	.	16.3357	0.83060	0.0:1.0:0.0:0.0	.	60;60;60	B4DKV0;Q96BK5-2;Q96BK5	.;.;PINX1_HUMAN	L	60;60;60;58;60;70	ENSP00000452017:V60L;ENSP00000451145:V60L;ENSP00000318966:V60L;ENSP00000411396:V58L;ENSP00000428853:V60L;ENSP00000428728:V70L	ENSP00000318966:V60L	V	-	1	0	SOX7;CTD-2135J3.4;PINX1	10727856	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.226000	0.65299	2.719000	0.93026	0.655000	0.94253	GTG		0.448	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		4	34	1	0	0.00024832	0.009096	0.000270348	4	34				
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:22005801C>A	ENST00000306317.2	-	8	1808	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.E483*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.E507*(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAGCCAGCTCCTGGAACCGT	0.612																																							uc003xav.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1519-1521)GAG>TAG		leucine-rich repeat LGI family, member 3							70.0	62.0	65.0					8																	22005801		2203	4300	6503	SO:0001587	stop_gained	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22005801C>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1519G>T	8.37:g.22005801C>A	ENSP00000302297:p.Glu507*					LGI3_uc010ltu.2_Nonsense_Mutation_p.E483*	p.E507*	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1808	-			507			EAR 7.		A5PLP2|Q86TL4|Q8N296	Nonsense_Mutation	SNP	ENST00000306317.2	37	c.1519G>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.852166	0.98525	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	.	.	.	5.1	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.1272	11.291	0.49250	0.0:0.9105:0.0:0.0895	.	.	.	.	X	507;483	.	ENSP00000302297:E507X	E	-	1	0	LGI3	22061746	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.766000	0.68843	1.124000	0.41980	0.561000	0.74099	GAG		0.612	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			5	21	1	0	3.59834e-05	0.001168	3.98177e-05	5	21				
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:22868122C>T	ENST00000251822.6	+	7	2229	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	RHOBTB2_ENST00000522948.1_Silent_p.T571T|RHOBTB2_ENST00000519685.1_Silent_p.T586T|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	564	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T564T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCATGTTCACCTCCAGCCCCG	0.587																																							uc003xcq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(1690-1692)ACC>ACT		Rho-related BTB domain containing 2 isoform 3							162.0	141.0	148.0					8																	22868122		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22868122C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1692C>T	8.37:g.22868122C>T						RHOBTB2_uc003xcp.2_Silent_p.T586T|RHOBTB2_uc011kzp.1_Silent_p.T571T|uc003xcr.2_Intron	p.T564T	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	7	2229	+		Prostate(55;0.0513)|Breast(100;0.214)	564			BTB 2.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.1692C>T	CCDS6034.1																																																																																				0.587	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			24	157	0	0	0	0.00632	0	24	157				
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	G	rs557856249		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:25744284C>G	ENST00000520164.1	-	10	1533	c.996G>C	c.(994-996)agG>agC	p.R332S	EBF2_ENST00000535548.1_Missense_Mutation_p.R63S|EBF2_ENST00000408929.3_Missense_Mutation_p.R184S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1		NA																	5	Substitution - Missense(5)	p.R332S(1)	lung(4)|ovary(1)	ovary(3)|skin(1)	4						c.(994-996)AGG>AGC		early B-cell factor 2							96.0	94.0	95.0					8																	25744284		1863	4098	5961	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25744284C>G	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.996G>C	8.37:g.25744284C>G	ENSP00000430241:p.Arg332Ser					PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.R332S	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	10	1013	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	332			IPT/TIG.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.996G>C	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485382	0.44147	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.76186	-1.0;-1.0;0.94	5.58	1.81	0.25067	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80974	0.4727	M	0.72894	2.215	0.80722	D	1	D	0.56521	0.976	P	0.61328	0.887	T	0.79325	-0.1850	10	0.52906	T	0.07	-15.817	10.1416	0.42738	0.0:0.6707:0.0:0.3293	.	332	Q9HAK2	COE2_HUMAN	S	332;184;63	ENSP00000430241:R332S;ENSP00000386178:R184S;ENSP00000437909:R63S	ENSP00000386178:R184S	R	-	3	2	EBF2	25800201	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.851000	0.39338	0.340000	0.23745	-0.993000	0.02533	AGG		0.483	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		15	71	0	0	0	0.00499	0	15	71				
NUGGC	389643	broad.mit.edu	37	8	27887919	27887919	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:27887919C>A	ENST00000413272.2	-	16	2067	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V	NUGGC_ENST00000341513.6_Missense_Mutation_p.G642V	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	642					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G642V(2)									CTCCAGGCCCCCGAGGATGGC	0.562																																							uc003xgm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1924-1926)GGG>GTG		speckled-like pattern in the germinal center							33.0	36.0	35.0					8																	27887919		1977	4145	6122	SO:0001583	missense	389643					nucleus	GTP binding|GTPase activity	g.chr8:27887919C>A	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1925G>T	8.37:g.27887919C>A	ENSP00000408697:p.Gly642Val						p.G642V	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	16	2068	-		Ovarian(32;0.0218)	642					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1925G>T	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.405945	0.25378	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15017	2.46;2.46	5.0	5.0	0.66597	.	0.431444	0.23874	N	0.043705	T	0.15825	0.0381	L	0.29908	0.895	0.54753	D	0.999988	B	0.27559	0.181	B	0.31686	0.134	T	0.04678	-1.0934	10	0.54805	T	0.06	-9.3661	14.2283	0.65875	0.0:1.0:0.0:0.0	.	642	Q68CJ6	SLIP_HUMAN	V	642	ENSP00000408697:G642V;ENSP00000345031:G642V	ENSP00000345031:G642V	G	-	2	0	C8orf80	27943838	0.793000	0.28825	1.000000	0.80357	0.108000	0.19459	1.194000	0.32174	2.479000	0.83701	0.558000	0.71614	GGG		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		8	21	1	0	9.70103e-10	0.008291	1.17325e-09	8	21				
NUGGC	389643	broad.mit.edu	37	8	27888782	27888782	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:27888782T>C	ENST00000413272.2	-	15	2028	c.1886A>G	c.(1885-1887)aAa>aGa	p.K629R	NUGGC_ENST00000341513.6_Missense_Mutation_p.K629R	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	629					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K629R(4)									GAAATTTTTTTTGCAGCTATC	0.453																																							uc003xgm.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(1885-1887)AAA>AGA		speckled-like pattern in the germinal center							164.0	168.0	167.0					8																	27888782		1891	4101	5992	SO:0001583	missense	389643					nucleus	GTP binding|GTPase activity	g.chr8:27888782T>C	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1886A>G	8.37:g.27888782T>C	ENSP00000408697:p.Lys629Arg						p.K629R	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	15	2029	-		Ovarian(32;0.0218)	629					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1886A>G	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	T	6.988	0.552463	0.13374	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.39229	1.09;1.09	5.23	4.08	0.47627	.	0.221613	0.39274	N	0.001419	T	0.27765	0.0683	L	0.34521	1.04	0.27288	N	0.957928	B	0.15930	0.015	B	0.14023	0.01	T	0.18681	-1.0329	10	0.17832	T	0.49	-19.2899	7.6052	0.28097	0.0:0.0963:0.0:0.9037	.	629	Q68CJ6	SLIP_HUMAN	R	629	ENSP00000408697:K629R;ENSP00000345031:K629R	ENSP00000345031:K629R	K	-	2	0	C8orf80	27944701	0.575000	0.26692	0.280000	0.24747	0.149000	0.21700	1.618000	0.36954	0.845000	0.35118	0.533000	0.62120	AAA		0.453	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		54	343	0	0	0	0.00361	0	54	343				
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:55538014T>G	ENST00000220676.1	+	4	1720	c.1572T>G	c.(1570-1572)gaT>gaG	p.D524E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	524					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D524E(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACAATGATCAAATGGAGG	0.348																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(4)|pancreas(1)	12						c.(1570-1572)GAT>GAG		retinitis pigmentosa RP1 protein							68.0	66.0	67.0					8																	55538014		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538014T>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1572T>G	8.37:g.55538014T>G	ENSP00000220676:p.Asp524Glu					RP1_uc011ldy.1_Intron	p.D524E	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1720	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	524						Missense_Mutation	SNP	ENST00000220676.1	37	c.1572T>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.308557	0.00237	.	.	ENSG00000104237	ENST00000220676	T	0.28666	1.6	5.62	-3.15	0.05233	.	0.595138	0.16006	N	0.234070	T	0.04998	0.0134	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31558	-0.9939	10	0.02654	T	1	.	1.9019	0.03269	0.2653:0.0751:0.274:0.3856	.	524	P56715	RP1_HUMAN	E	524	ENSP00000220676:D524E	ENSP00000220676:D524E	D	+	3	2	RP1	55700567	0.000000	0.05858	0.007000	0.13788	0.341000	0.28922	-0.720000	0.04969	-0.437000	0.07243	-1.415000	0.01116	GAT		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	60	0	0	0	0.000602	0	4	60				
TRIM55	84675	broad.mit.edu	37	8	67064862	67064863	+	Splice_Site	DNP	GG	GG	AT			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:67064862_67064863GG>AT	ENST00000315962.4	+	8	1609	c.1236_1236GG>AT	c.(1234-1236)caGG>caATg	p.Q412Q	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Splice_Site_p.Q412Q|TRIM55_ENST00000276573.7_Splice_Site_p.Q412Q	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	412					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGTGACACAGGTAACCCCTCC	0.54																																							uc003xvv.2		NA																	2	Unknown(2)		lung(2)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.e8+1		tripartite motif-containing 55 isoform 1																																				SO:0001630	splice_region_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67064862_67064863GG>AT	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	Exception_encountered	8.37:g.67064862_67064863delinsAT						TRIM55_uc003xvu.2_Splice_Site_p.Q412_splice|TRIM55_uc003xvw.2_Splice_Site_p.Q412_splice|TRIM55_uc003xvx.2_Intron	p.Q412_splice	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		8	1462	+		Lung NSC(129;0.138)|all_lung(136;0.221)						B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Splice_Site	DNP	ENST00000315962.4	37	c.1236_splice	CCDS6184.1																																																																																				0.540	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	Silent	33	143	0	0	0	0.004672	0	33	143				
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:71056877C>G	ENST00000452400.2	-	13	2993	c.2812G>C	c.(2812-2814)Gga>Cga	p.G938R	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.G938R(2)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCCTTACCTGTGCTACTG	0.363			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																		uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	2	Substitution - Missense(2)		lung(2)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(2812-2814)GGA>CGA		nuclear receptor coactivator 2							150.0	130.0	136.0					8																	71056877		1877	4114	5991	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71056877C>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2812+1G>C	8.37:g.71056877C>G						NCOA2_uc011lfb.1_Intron	p.G938R	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		13	2974	-	Breast(64;0.201)		938					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.2812G>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308532	0.60305	.	.	ENSG00000140396	ENST00000452400	T	0.02197	4.4	6.01	6.01	0.97437	.	0.101321	0.64402	D	0.000002	T	0.04452	0.0122	L	0.54323	1.7	0.80722	D	1	B	0.14438	0.01	B	0.16722	0.016	T	0.51957	-0.8639	9	.	.	.	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	938	Q15596	NCOA2_HUMAN	R	938	ENSP00000399968:G938R	.	G	-	1	0	NCOA2	71219431	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.449000	0.73473	2.861000	0.98227	0.650000	0.86243	GGA		0.363	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Missense_Mutation	13	99	0	0	0	0.003163	0	13	99				
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:71512306T>A	ENST00000262213.2	-	2	304	c.135A>T	c.(133-135)aaA>aaT	p.K45N	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_De_novo_Start_OutOfFrame|TRAM1_ENST00000536748.1_Missense_Mutation_p.K14N	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	45					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.K45N(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGATAGAAGCTTTTGCCGTTA	0.368																																					Ovarian(85;984 1334 5116 12432 40638)	Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(133-135)AAA>AAT		translocation associated membrane protein 1							83.0	79.0	80.0					8																	71512306		2203	4300	6503	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71512306T>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.135A>T	8.37:g.71512306T>A	ENSP00000262213:p.Lys45Asn					TRAM1_uc011lfc.1_Missense_Mutation_p.K14N	p.K45N	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		2	305	-			45			Helical; (Potential).		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.135A>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641972	0.47153	.	.	ENSG00000067167	ENST00000262213;ENST00000536748;ENST00000518678	T;T	0.33865	1.41;1.39	4.92	2.45	0.29901	.	0.051487	0.64402	D	0.000001	T	0.31389	0.0795	M	0.63843	1.955	0.58432	D	0.999991	B	0.29835	0.258	B	0.31946	0.138	T	0.05022	-1.0911	10	0.21540	T	0.41	-6.7924	7.6083	0.28115	0.0:0.2591:0.0:0.7409	.	45	Q15629	TRAM1_HUMAN	N	45;14;14	ENSP00000262213:K45N;ENSP00000439359:K14N	ENSP00000262213:K45N	K	-	3	2	TRAM1	71674860	1.000000	0.71417	0.967000	0.41034	0.782000	0.44232	1.040000	0.30278	0.889000	0.36185	0.374000	0.22700	AAA		0.368	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		47	72	0	0	0	0.00361	0	47	72				
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:72754932A>T	ENST00000325509.4	-	2	874	c.585T>A	c.(583-585)gtT>gtA	p.V195V	RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_5'Flank|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	195					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V195V(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGGCTGCGGAAACTTCTTTGG	0.468																																							uc003xyx.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(583-585)GTT>GTA		musculin							358.0	358.0	358.0					8																	72754932		1952	4139	6091	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754932A>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.585T>A	8.37:g.72754932A>T						uc011lff.1_5'Flank|uc003xyy.2_5'Flank	p.V195V	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	903	-	Breast(64;0.176)		195					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.585T>A	CCDS43746.1																																																																																				0.468	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		223	437	0	0	0	0.00361	0	223	437				
CRISPLD1	83690	broad.mit.edu	37	8	75932301	75932301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:75932301T>A	ENST00000262207.4	+	12	1699	c.1231T>A	c.(1231-1233)Tca>Aca	p.S411T	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S225T|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S223T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	411	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.S411T(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)			TAAGCCTGCTTCACATTGCCC	0.413																																							uc003yan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1231-1233)TCA>ACA		cysteine-rich secretory protein LCCL domain							119.0	108.0	112.0					8																	75932301		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75932301T>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.1231T>A	8.37:g.75932301T>A	ENSP00000262207:p.Ser411Thr					CRISPLD1_uc011lfk.1_Missense_Mutation_p.S223T|CRISPLD1_uc011lfl.1_Missense_Mutation_p.S223T	p.S411T	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		12	1606	+	Breast(64;0.0799)		411			LCCL 2.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1231T>A	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	T	4.366	0.067492	0.08388	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89050	-2.46;-2.46;-2.46	5.44	5.44	0.79542	LCCL (5);	0.232801	0.38897	N	0.001533	T	0.71753	0.3377	N	0.04063	-0.285	0.34015	D	0.652004	B;B	0.10296	0.003;0.001	B;B	0.16289	0.015;0.003	T	0.67952	-0.5537	10	0.05351	T	0.99	.	9.7003	0.40182	0.2624:0.0:0.0:0.7376	.	225;411	B7Z929;Q9H336	.;CRLD1_HUMAN	T	411;223;225	ENSP00000262207:S411T;ENSP00000430105:S223T;ENSP00000429746:S225T	ENSP00000262207:S411T	S	+	1	0	CRISPLD1	76094856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.759000	0.55227	2.285000	0.76669	0.528000	0.53228	TCA		0.413	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		17	261	0	0	0	0.010504	0	17	261				
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:76472700C>A	ENST00000354370.1	+	10	1374	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	HNF4G_ENST00000396423.2_Splice_Site_p.I405I			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I405I(2)|p.I368I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGACCAGATCTGTAAGTTTA	0.363																																							uc003yaq.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1102-1104)ATC>ATA		hepatocyte nuclear factor 4, gamma							96.0	88.0	91.0					8																	76472700		2203	4300	6503	SO:0001630	splice_region_variant	3174				endocrine pancreas development|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.chr8:76472700C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1105+1C>A	8.37:g.76472700C>A						HNF4G_uc003yar.2_Silent_p.I405I	p.I368I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		10	1374	+	Breast(64;0.0448)		368					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.1104C>A																																																																																					0.363	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133	Silent	20	164	1	0	1.00905e-13	0.008871	1.31298e-13	20	164				
ZFHX4	79776	broad.mit.edu	37	8	77616685	77616685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77616685A>G	ENST00000521891.2	+	2	810	c.362A>G	c.(361-363)gAc>gGc	p.D121G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D121G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D121G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D121G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	121					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.D121G(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)			GAGTTAGAGGACAGTGACGTG	0.478										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(361-363)GAC>GGC		zinc finger homeodomain 4							139.0	134.0	136.0					8																	77616685		1975	4172	6147	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616685A>G		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.362A>G	8.37:g.77616685A>G	ENSP00000430497:p.Asp121Gly	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.D121G|ZFHX4_uc003yau.1_Missense_Mutation_p.D121G|ZFHX4_uc003yaw.1_Missense_Mutation_p.D121G	p.D121G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	749	+			121					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.362A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344609	0.61073	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.42	5.42	0.78866	.	0.000000	0.46758	U	0.000264	T	0.47875	0.1469	N	0.05078	-0.115	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.976	D;D;D;P	0.68765	0.913;0.96;0.96;0.675	T	0.60342	-0.7282	10	0.66056	D	0.02	.	15.6293	0.76888	1.0:0.0:0.0:0.0	.	121;121;121;121	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	G	121	ENSP00000430497:D121G;ENSP00000399605:D121G;ENSP00000050961:D121G;ENSP00000428525:D121G;ENSP00000427775:D121G;ENSP00000427739:D121G;ENSP00000430848:D121G	ENSP00000050961:D121G	D	+	2	0	ZFHX4	77779240	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.106000	0.94253	2.276000	0.75962	0.528000	0.53228	GAC		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	313	0	0	0	0.001855	0	13	313				
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77690476C>A	ENST00000521891.2	+	4	3574	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P	ZFHX4_ENST00000050961.6_Silent_p.P1016P|ZFHX4_ENST00000518282.1_Silent_p.P1016P|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.P1016P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016					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.P1042P(2)		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)			CAGTGAATCCCGAATCCTGCT	0.483										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3046-3048)CCC>CCA		zinc finger homeodomain 4							127.0	127.0	127.0					8																	77690476		1999	4161	6160	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690476C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3126C>A	8.37:g.77690476C>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P1042P|ZFHX4_uc003yaw.1_Silent_p.P1016P	p.P1016P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3435	+			1016					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.3048C>A	CCDS47878.2																																																																																				0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		195	337	1	0	3.39112e-68	0.00361	6.3145e-68	195	337				
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77766770T>C	ENST00000521891.2	+	10	8061	c.7613T>C	c.(7612-7614)aTg>aCg	p.M2538T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493					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.M2522T(2)		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)			ATGCCCTACATGATATTTGAC	0.547										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7477-7479)ATG>ACG		zinc finger homeodomain 4							133.0	131.0	131.0					8																	77766770		1995	4171	6166	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766770T>C		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.7613T>C	8.37:g.77766770T>C	ENSP00000430497:p.Met2538Thr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.M2538T|ZFHX4_uc003yaw.1_Missense_Mutation_p.M2493T	p.M2493T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7865	+			2493					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7478T>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193019	0.38707	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.55;0.6;0.57;0.56	4.94	4.94	0.65067	.	0.000000	0.53938	U	0.000049	T	0.70718	0.3256	M	0.73962	2.25	0.80722	D	1	P;D;D	0.60575	0.92;0.971;0.988	P;D;D	0.70716	0.854;0.931;0.97	T	0.72487	-0.4278	10	0.45353	T	0.12	.	14.7648	0.69632	0.0:0.0:0.0:1.0	.	2493;2493;2538	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2538;2522;2493;2493;2512	ENSP00000430497:M2538T;ENSP00000399605:M2493T;ENSP00000050961:M2493T;ENSP00000430848:M2512T	ENSP00000050961:M2493T	M	+	2	0	ZFHX4	77929325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	2.077000	0.62373	0.528000	0.53228	ATG		0.547	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		92	460	0	0	0	0.00361	0	92	460				
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77775904G>C	ENST00000521891.2	+	11	10402	c.9954G>C	c.(9952-9954)caG>caC	p.Q3318H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3269H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3292H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3273H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3269					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.Q3302H(2)		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)			TGTTgcagcagtaccaacagt	0.527										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9817-9819)CAG>CAC		zinc finger homeodomain 4							26.0	29.0	28.0					8																	77775904		1996	4173	6169	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775904G>C		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.9954G>C	8.37:g.77775904G>C	ENSP00000430497:p.Gln3318His	HNSCC(33;0.089)					p.Q3273H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10206	+			3269			Potential.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9819G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979272	0.34942	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54071	0.59;0.64;0.61;0.59	5.03	4.16	0.48862	.	0.000000	0.40818	U	0.001018	T	0.65943	0.2740	L	0.50333	1.59	0.49389	D	0.999781	D	0.76494	0.999	D	0.85130	0.997	T	0.68150	-0.5485	10	0.59425	D	0.04	.	13.4924	0.61405	0.0759:0.0:0.9241:0.0	.	3273	Q86UP3-4	.	H	3318;3302;3273;3269;3292	ENSP00000430497:Q3318H;ENSP00000399605:Q3273H;ENSP00000050961:Q3269H;ENSP00000430848:Q3292H	ENSP00000050961:Q3269H	Q	+	3	2	ZFHX4	77938459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.197000	0.65141	1.371000	0.46172	0.655000	0.94253	CAG		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	23	0	0	0	0.000978	0	12	23				
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:87645122C>A	ENST00000320005.5	-	11	1226		c.e11-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCAGATACCTGTGAAAACA	0.303																																							uc003ydx.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|pancreas(1)	3						c.e11-1		cyclic nucleotide gated channel beta 3							55.0	55.0	55.0					8																	87645122		2203	4299	6502	SO:0001630	splice_region_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645122C>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1179-1G>T	8.37:g.87645122C>A						CNGB3_uc010maj.2_Splice_Site_p.E255_splice	p.E393_splice	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			11	1225	-								C9JA51|Q9NRE9	Splice_Site	SNP	ENST00000320005.5	37	c.1179_splice	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723858	0.48728	.	.	ENSG00000170289	ENST00000320005	.	.	.	5.12	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1996	0.73126	0.1423:0.8577:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNGB3	87714238	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.776000	0.85560	1.264000	0.44198	-0.291000	0.09656	.		0.303	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	Intron	47	114	1	0	5.7761e-15	0.00361	7.67305e-15	47	114				
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:101051202T>C	ENST00000360863.6	-	14	2317	c.2123A>G	c.(2122-2124)tAc>tGc	p.Y708C	RGS22_ENST00000523287.1_Missense_Mutation_p.Y527C|RGS22_ENST00000523437.1_Missense_Mutation_p.Y696C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Y708C(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTTTCTTGGTAGAAAAGCTG	0.358																																							uc003yjb.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2122-2124)TAC>TGC		regulator of G-protein signaling 22							121.0	108.0	112.0					8																	101051202		1853	4099	5952	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101051202T>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2123A>G	8.37:g.101051202T>C	ENSP00000354109:p.Tyr708Cys					RGS22_uc003yja.1_Missense_Mutation_p.Y527C|RGS22_uc003yjc.1_Missense_Mutation_p.Y696C|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.Y708C	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		14	2318	-			708					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2123A>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774091	0.69992	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.52295	0.7;0.67;0.68	5.17	5.17	0.71159	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.62575	0.2439	L	0.45581	1.43	0.38193	D	0.939977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	T	0.69053	-0.5247	10	0.87932	D	0	.	15.0145	0.71573	0.0:0.0:0.0:1.0	.	696;708;527	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	C	708;696;527;696	ENSP00000354109:Y708C;ENSP00000429382:Y527C;ENSP00000428212:Y696C	ENSP00000354109:Y708C	Y	-	2	0	RGS22	101120378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.480000	0.66820	1.947000	0.56498	0.482000	0.46254	TAC		0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		26	194	0	0	0	0.008361	0	26	194				
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:104943527A>G	ENST00000436393.2	+	10	1856	c.1615A>G	c.(1615-1617)Ata>Gta	p.I539V	RIMS2_ENST00000406091.3_Missense_Mutation_p.I761V|RIMS2_ENST00000507740.1_Missense_Mutation_p.I553V|RIMS2_ENST00000262231.10_Missense_Mutation_p.I600V			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823					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.I553V(4)|p.I828V(2)|p.I539V(2)|p.I761V(2)		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)			TCACCAATTAATAGTTACAAT	0.338										HNSCC(12;0.0054)																													uc003yls.2		NA																	10	Substitution - Missense(10)		lung(10)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1615-1617)ATA>GTA		regulating synaptic membrane exocytosis 2							69.0	69.0	69.0					8																	104943527		1807	4071	5878	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104943527A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1615A>G	8.37:g.104943527A>G	ENSP00000390665:p.Ile539Val	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.I761V|RIMS2_uc003ylw.2_Missense_Mutation_p.I553V|RIMS2_uc003ylq.2_Missense_Mutation_p.I553V|RIMS2_uc003ylr.2_Missense_Mutation_p.I600V|RIMS2_uc003ylt.2_Missense_Mutation_p.I146V	p.I539V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		10	1856	+			823			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1615A>G		.	.	.	.	.	.	.	.	.	.	A	24.2	4.505726	0.85282	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	6.07	6.07	0.98685	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.74884	0.3775	N	0.16602	0.42	0.80722	D	1	B;B;B;B;B;B	0.30686	0.089;0.098;0.29;0.033;0.036;0.071	B;B;P;B;B;B	0.62089	0.365;0.234;0.898;0.069;0.12;0.255	T	0.75889	-0.3158	9	0.48119	T	0.1	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	823;823;539;600;553;761	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	V	761;776;761;823;553;600;553;553;539	ENSP00000427018:I761V;ENSP00000384892:I761V;ENSP00000425205:I553V;ENSP00000262231:I600V;ENSP00000423559:I553V;ENSP00000386228:I553V;ENSP00000390665:I539V	ENSP00000262231:I600V	I	+	1	0	RIMS2	105012703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.520000	0.81821	2.326000	0.78906	0.533000	0.62120	ATA		0.338	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		14	126	0	0	0	0.004007	0	14	126				
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:106814424A>G	ENST00000407775.2	+	8	2364	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	ZFPM2_ENST00000520492.1_Missense_Mutation_p.H573R|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H436R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	705					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H705R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACATGGTCCACAAACAGTAT	0.517																																							uc003ymd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(2113-2115)CAC>CGC		zinc finger protein, multitype 2							66.0	63.0	64.0					8																	106814424		2054	4203	6257	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814424A>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2114A>G	8.37:g.106814424A>G	ENSP00000384179:p.His705Arg					ZFPM2_uc011lhs.1_Missense_Mutation_p.H436R	p.H705R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2137	+			705			C2HC-type 3.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2114A>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840695	0.71488	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	D;D;D;D	0.99926	-8.05;-8.05;-8.05;-8.05	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);	0.041576	0.85682	D	0.000000	D	0.99914	0.9959	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95773	0.8810	10	0.54805	T	0.06	.	16.002	0.80301	1.0:0.0:0.0:0.0	.	705	Q8WW38	FOG2_HUMAN	R	705;573;573;436	ENSP00000384179:H705R;ENSP00000430757:H573R;ENSP00000428720:H573R;ENSP00000367733:H436R	ENSP00000367733:H436R	H	+	2	0	ZFPM2	106883600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.186000	0.69663	0.459000	0.35465	CAC		0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			45	74	0	0	0	0.00361	0	45	74				
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:109001368C>A	ENST00000276659.5	-	3	819	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_De_novo_Start_OutOfFrame|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	67					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.G67W(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGGCGCATCCCTTCTCTTCGA	0.468																																							uc003yms.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(199-201)GGG>TGG		R-spondin family, member 2 precursor							122.0	100.0	108.0					8																	109001368		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001368C>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.199G>T	8.37:g.109001368C>A	ENSP00000276659:p.Gly67Trp					RSPO2_uc003ymq.2_Translation_Start_Site|RSPO2_uc003ymr.2_Intron	p.G67W	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	857	-			67					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.199G>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088109	0.76642	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.04	5.04	0.67666	Growth factor, receptor (1);	0.047905	0.85682	D	0.000000	D	0.91922	0.7442	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.92411	0.5937	10	0.62326	D	0.03	1.1708	18.7527	0.91821	0.0:1.0:0.0:0.0	.	67	Q6UXX9	RSPO2_HUMAN	W	67;67;39;67	ENSP00000276659:G67W;ENSP00000430010:G67W;ENSP00000429159:G39W;ENSP00000430973:G67W	ENSP00000276659:G67W	G	-	1	0	RSPO2	109070544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.257000	0.58816	2.506000	0.84524	0.557000	0.71058	GGG		0.468	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		147	295	1	0	8.54292e-67	0.00361	1.58256e-66	147	295				
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:110478928C>A	ENST00000378402.5	+	50	8639	c.8535C>A	c.(8533-8535)caC>caA	p.H2845Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2845					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H2847Q(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCTTTCACCGTTTAGCGT	0.438										HNSCC(38;0.096)																													uc003yne.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8533-8535)CAC>CAA		fibrocystin L precursor							144.0	134.0	137.0					8																	110478928		1952	4155	6107	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478928C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8535C>A	8.37:g.110478928C>A	ENSP00000367655:p.His2845Gln	HNSCC(38;0.096)					p.H2845Q	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8639	+			2845			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8535C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902748	0.52227	.	.	ENSG00000205038	ENST00000378402	D	0.87256	-2.23	6.16	1.9	0.25705	.	0.000000	0.85682	D	0.000000	D	0.88584	0.6476	M	0.74258	2.255	0.29519	N	0.853623	P	0.48640	0.913	P	0.55011	0.766	T	0.81560	-0.0877	10	0.30078	T	0.28	.	6.691	0.23171	0.0:0.5085:0.0:0.4915	.	2845	Q86WI1	PKHL1_HUMAN	Q	2845	ENSP00000367655:H2845Q	ENSP00000367655:H2845Q	H	+	3	2	PKHD1L1	110548104	1.000000	0.71417	0.997000	0.53966	0.535000	0.34838	1.290000	0.33319	0.479000	0.27511	-0.142000	0.14014	CAC		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		50	93	1	0	5.66675e-16	0.00361	7.66929e-16	50	93				
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113246706C>A	ENST00000297405.5	-	68	10872	c.10628G>T	c.(10627-10629)gGg>gTg	p.G3543V	CSMD3_ENST00000343508.3_Splice_Site_p.G3503V|CSMD3_ENST00000455883.2_Splice_Site_p.G3374V|CSMD3_ENST00000352409.3_Splice_Site_p.G3473V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3543						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3503V(2)|p.G3543V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATATACCCCTGTAAAATG	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10627-10629)GGG>GTG		CUB and Sushi multiple domains 3 isoform 1							124.0	122.0	123.0					8																	113246706		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113246706C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10628-1G>T	8.37:g.113246706C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2745V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3503V|CSMD3_uc011lhx.1_Missense_Mutation_p.G3374V	p.G3543V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			68	10787	-			3543			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10628G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109615	0.77096	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.53857	0.96;0.94;1.1;0.6;1.03	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.72653	0.3487	M	0.73217	2.22	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.537	D;D;B	0.81914	0.995;0.987;0.219	T	0.74262	-0.3722	10	0.59425	D	0.04	.	18.8461	0.92208	0.0:1.0:0.0:0.0	.	3374;3543;3503	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3503;3543;2813;3374;3473	ENSP00000345799:G3503V;ENSP00000297405:G3543V;ENSP00000341558:G2813V;ENSP00000412263:G3374V;ENSP00000343124:G3473V	ENSP00000297405:G3543V	G	-	2	0	CSMD3	113315882	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	2.690000	0.91761	0.655000	0.94253	GGG		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	33	333	1	0	8.53417e-09	0.002836	1.01732e-08	33	333				
CSMD3	114788	broad.mit.edu	37	8	113299394	113299394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113299394G>A	ENST00000297405.5	-	58	9474	c.9230C>T	c.(9229-9231)aCt>aTt	p.T3077I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T3037I(1)|p.T3077I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAACGTACAGTACTTTTAGT	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9229-9231)ACT>ATT		CUB and Sushi multiple domains 3 isoform 1							178.0	150.0	159.0					8																	113299394		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113299394G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9230C>T	8.37:g.113299394G>A	ENSP00000297405:p.Thr3077Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T2279I|CSMD3_uc003ynt.2_Missense_Mutation_p.T3037I|CSMD3_uc011lhx.1_Missense_Mutation_p.T2908I	p.T3077I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9389	-			3077			Extracellular (Potential).|Sushi 22.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9230C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682511	0.29872	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.36	2.5	0.30297	Complement control module (2);Sushi/SCR/CCP (3);	0.652914	0.14801	N	0.297625	T	0.51534	0.1680	L	0.41415	1.275	0.20873	N	0.999839	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.41627	-0.9498	10	0.42905	T	0.14	.	3.6034	0.08032	0.12:0.1202:0.5131:0.2466	.	2908;3077;3037	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3037;3077;2347;2908;3007	ENSP00000345799:T3037I;ENSP00000297405:T3077I;ENSP00000341558:T2347I;ENSP00000412263:T2908I;ENSP00000343124:T3007I	ENSP00000297405:T3077I	T	-	2	0	CSMD3	113368570	0.565000	0.26610	0.986000	0.45419	0.993000	0.82548	0.814000	0.27239	0.728000	0.32382	0.650000	0.86243	ACT		0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	374	0	0	0	0.001855	0	12	374				
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	T	A	rs202053990		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113569119T>A	ENST00000297405.5	-	25	4351	c.4107A>T	c.(4105-4107)caA>caT	p.Q1369H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q1329H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q1265H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q1369H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAGTGGCCTTGGTCACTGA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4105-4107)CAA>CAT		CUB and Sushi multiple domains 3 isoform 1							100.0	90.0	93.0					8																	113569119		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113569119T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4107A>T	8.37:g.113569119T>A	ENSP00000297405:p.Gln1369His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q641H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1329H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1265H	p.Q1369H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			25	4266	-			1369			Extracellular (Potential).|Sushi 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4107A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382873	0.61845	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	4.97	1.27	0.21489	Complement control module (2);Sushi/SCR/CCP (3);	0.079836	0.51477	D	0.000087	T	0.66509	0.2796	L	0.43598	1.365	0.29052	N	0.884422	D;D;D	0.76494	0.999;0.999;0.988	D;D;P	0.73708	0.968;0.981;0.796	T	0.59852	-0.7376	10	0.45353	T	0.12	.	8.3119	0.32077	0.0:0.3026:0.0:0.6974	.	1265;1369;1329	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	1329;1369;709;1265;1369	ENSP00000345799:Q1329H;ENSP00000297405:Q1369H;ENSP00000341558:Q709H;ENSP00000412263:Q1265H;ENSP00000343124:Q1369H	ENSP00000297405:Q1369H	Q	-	3	2	CSMD3	113638295	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	0.188000	0.17018	0.395000	0.25257	0.533000	0.62120	CAA		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		63	139	0	0	0	0.00361	0	63	139				
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113668510T>A	ENST00000297405.5	-	18	3121	c.2877A>T	c.(2875-2877)tcA>tcT	p.S959S	CSMD3_ENST00000343508.3_Silent_p.S919S|CSMD3_ENST00000455883.2_Silent_p.S855S|CSMD3_ENST00000352409.3_Silent_p.S959S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	959	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S919S(2)|p.S959S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGCAAGGGTGACAGAAGAT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2875-2877)TCA>TCT		CUB and Sushi multiple domains 3 isoform 1							74.0	80.0	78.0					8																	113668510		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113668510T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2877A>T	8.37:g.113668510T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.S231S|CSMD3_uc003ynt.2_Silent_p.S919S|CSMD3_uc011lhx.1_Silent_p.S855S	p.S959S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	3036	-			959			Extracellular (Potential).|CUB 5.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2877A>T	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	149	0	0	0	0.00278	0	20	149				
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113988292G>T	ENST00000297405.5	-	7	1360	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S332R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S372R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	372						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S372R(2)|p.S332R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCAGGTGTGCTAGCAACAG	0.483										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1114-1116)AGC>AGA		CUB and Sushi multiple domains 3 isoform 1							179.0	163.0	168.0					8																	113988292		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988292G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1116C>A	8.37:g.113988292G>T	ENSP00000297405:p.Ser372Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.S332R|CSMD3_uc011lhx.1_Intron	p.S372R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1275	-			372			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1116C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702301	0.48307	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.20463	2.07;2.07;2.08	6.17	5.28	0.74379	.	0.333001	0.24074	N	0.041788	T	0.15869	0.0382	N	0.22421	0.69	0.28583	N	0.91004	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.09707	-1.0662	10	0.17369	T	0.5	.	16.8466	0.85982	0.0:0.0:0.8705:0.1295	.	372;332	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	R	332;372;372	ENSP00000345799:S332R;ENSP00000297405:S372R;ENSP00000343124:S372R	ENSP00000297405:S372R	S	-	3	2	CSMD3	114057468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.843000	0.48238	1.575000	0.49775	0.655000	0.94253	AGC		0.483	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	157	1	0	2.94398e-08	0.007413	3.45974e-08	16	157				
HAS2	3037	broad.mit.edu	37	8	122641133	122641133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:122641133T>A	ENST00000303924.4	-	2	985	c.448A>T	c.(448-450)Aac>Tac	p.N150Y		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	150					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.N150Y(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGTTGTTCTTCCAGATA	0.438																																							uc003yph.2		NA																HAS2/PLAG1(10)	1	Substitution - Missense(1)		lung(1)	soft_tissue(10)|ovary(5)	15						c.(448-450)AAC>TAC		hyaluronan synthase 2							292.0	261.0	272.0					8																	122641133		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641133T>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.448A>T	8.37:g.122641133T>A	ENSP00000306991:p.Asn150Tyr						p.N150Y	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	986	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		150			Cytoplasmic (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.448A>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836062	0.50951	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59638	0.25	6.17	6.17	0.99709	.	0.037727	0.85682	D	0.000000	T	0.54481	0.1861	L	0.53249	1.67	0.58432	D	0.99999	B	0.32101	0.356	B	0.27262	0.078	T	0.55736	-0.8094	10	0.56958	D	0.05	-27.2684	16.8222	0.85835	0.0:0.0:0.0:1.0	.	150	Q92819	HAS2_HUMAN	Y	150	ENSP00000306991:N150Y	ENSP00000306991:N150Y	N	-	1	0	HAS2	122710314	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.141000	0.71744	2.371000	0.80710	0.533000	0.62120	AAC		0.438	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		34	555	0	0	0	0.002836	0	34	555				
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:124449458G>T	ENST00000287387.2	+	5	517	c.392G>T	c.(391-393)aGa>aTa	p.R131I	WDYHV1_ENST00000523984.1_Missense_Mutation_p.R71I|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.R131I|WDYHV1_ENST00000518125.1_5'UTR	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)	p.R131I(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGGAAATTTAGAGTGATCCGT	0.408																																							uc003yqn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(391-393)AGA>ATA		WDYHV motif containing 1							73.0	74.0	74.0					8																	124449458		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124449458G>T	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.392G>T	8.37:g.124449458G>T	ENSP00000287387:p.Arg131Ile					WDYHV1_uc011lij.1_Missense_Mutation_p.R71I|WDYHV1_uc003yqo.1_RNA	p.R131I	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			5	517	+			131					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.392G>T	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376563	0.61735	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000523356	T;T;T	0.39997	1.05;1.05;1.05	5.48	4.61	0.57282	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.054132	0.85682	N	0.000000	T	0.68751	0.3035	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75578	-0.3269	10	0.72032	D	0.01	-22.0267	14.7574	0.69576	0.0:0.0:0.854:0.146	.	131	Q96HA8	NTAQ1_HUMAN	I	131;71;131	ENSP00000287387:R131I;ENSP00000430427:R71I;ENSP00000428615:R131I	ENSP00000287387:R131I	R	+	2	0	WDYHV1	124518639	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	6.205000	0.72148	1.320000	0.45209	-0.196000	0.12772	AGA		0.408	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		12	104	1	0	6.72482e-11	0.003163	8.32891e-11	12	104				
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:125110055C>A	ENST00000522917.1	+	37	5020	c.4814C>A	c.(4813-4815)aCt>aAt	p.T1605N	FER1L6_ENST00000399018.1_Missense_Mutation_p.T1605N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1605	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTGGAACACTGAAGATGTC	0.418																																							uc003yqw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4813-4815)ACT>AAT		fer-1-like 6							112.0	104.0	107.0					8																	125110055		1962	4160	6122	SO:0001583	missense	654463					integral to membrane		g.chr8:125110055C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4814C>A	8.37:g.125110055C>A	ENSP00000428280:p.Thr1605Asn					uc003yqy.1_Intron	p.T1605N	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		37	5020	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1605			C2 6.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.4814C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051053	0.93740	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.95588	-3.75;-3.75	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056984	0.64402	U	0.000002	D	0.98169	0.9395	H	0.94503	3.545	0.80722	D	1	P	0.46020	0.871	P	0.56163	0.793	D	0.98776	1.0730	10	0.72032	D	0.01	-19.725	19.8227	0.96604	0.0:1.0:0.0:0.0	.	1605	Q2WGJ9	FR1L6_HUMAN	N	1605	ENSP00000428280:T1605N;ENSP00000381982:T1605N	ENSP00000381982:T1605N	T	+	2	0	FER1L6	125179236	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.776000	0.85560	2.759000	0.94783	0.650000	0.86243	ACT		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		145	237	1	0	2.89414e-53	0.00361	5.1073e-53	145	237				
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:131797656G>T	ENST00000286355.5	-	16	5218	c.3126C>A	c.(3124-3126)gcC>gcA	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498										HNSCC(32;0.087)																													uc003ytd.3		NA																	3	Substitution - coding silent(3)		lung(3)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3124-3126)GCC>GCA		adenylate cyclase 8							113.0	96.0	102.0					8																	131797656		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131797656G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3126C>A	8.37:g.131797656G>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.A911A	p.A1042A	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		16	3382	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1042			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.3126C>A	CCDS6363.1																																																																																				0.498	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			102	377	1	0	1.54771e-57	0.00361	2.77663e-57	102	377				
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:134125713C>A	ENST00000220616.4	+	44	7660	c.7620C>A	c.(7618-7620)taC>taA	p.Y2540*	TG_ENST00000542445.1_Nonsense_Mutation_p.Y910*|TG_ENST00000519543.1_Nonsense_Mutation_p.Y673*|TG_ENST00000377869.1_Nonsense_Mutation_p.Y2483*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2540					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Y2540*(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTTTTACCAGGCACTGC	0.488																																							uc003ytw.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7618-7620)TAC>TAA		thyroglobulin precursor							82.0	86.0	85.0					8																	134125713		2203	4300	6503	SO:0001587	stop_gained	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134125713C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7620C>A	8.37:g.134125713C>A	ENSP00000220616:p.Tyr2540*					TG_uc010mdw.2_Nonsense_Mutation_p.Y1299*|TG_uc011ljb.1_Nonsense_Mutation_p.Y909*|TG_uc011ljc.1_Nonsense_Mutation_p.Y673*	p.Y2540*	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	44	7661	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2540					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	ENST00000220616.4	37	c.7620C>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.456363|14.456363	0.99796|0.99796	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|.	.|.	.|.	4.83|4.83	3.02|3.02	0.34903|0.34903	.|.	.|0.521004	.|0.17656	.|N	.|0.166500	T|.	0.16769|.	0.0403|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32322|.	-0.9911|.	3|.	.|0.02654	.|T	.|1	.|.	7.1236|7.1236	0.25458|0.25458	0.0:0.6352:0.0:0.3648|0.0:0.6352:0.0:0.3648	.|.	.|.	.|.	.|.	T|X	996|2483;1346;2540;910;673	.|.	.|ENSP00000220616:Y2540X	P|Y	+|+	1|3	0|2	TG|TG	134194895|134194895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.837000|0.837000	0.47467|0.47467	0.841000|0.841000	0.27613|0.27613	0.548000|0.548000	0.28955|0.28955	0.655000|0.655000	0.94253|0.94253	CCA|TAC		0.488	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		72	128	1	0	1.02218e-41	0.00361	1.72763e-41	72	128				
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:139209901G>A	ENST00000395297.1	-	8	851	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	227								p.Y227Y(4)		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)			CAGAGGTGATGTAGAAGCTTC	0.582										HNSCC(54;0.14)																													uc003yuy.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(7)|skin(2)	9						c.(679-681)TAC>TAT		hypothetical protein LOC51059							84.0	97.0	93.0					8																	139209901		2121	4265	6386	SO:0001819	synonymous_variant	51059							g.chr8:139209901G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.681C>T	8.37:g.139209901G>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.Y128Y|FAM135B_uc003yuz.2_RNA	p.Y227Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	852	-	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)		227					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.681C>T	CCDS6375.2																																																																																				0.582	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		32	168	0	0	0	0.003755	0	32	168				
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592										HNSCC(7;0.00092)																													uc003yvd.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(11)|pancreas(1)|skin(1)	13						c.(1429-1431)TCC>TCA		collagen, type XXII, alpha 1							75.0	64.0	68.0					8																	139824060		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139824060G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1431C>A	8.37:g.139824060G>T		HNSCC(7;0.00092)					p.S477S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		9	1878	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		477			Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1431C>A	CCDS6376.1																																																																																				0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		129	187	1	0	8.32301e-65	0.00361	1.53132e-64	129	187				
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site	SNP	C	C	A	rs199940603		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:2820099C>A	ENST00000397885.2	-	13	1395		c.e13-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGTATTGGCCCTGCAAGAATT	0.403																																							uc003zhp.1		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e13-1		KIAA0020 protein							61.0	59.0	60.0					9																	2820099		2203	4300	6503	SO:0001630	splice_region_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2820099C>A	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1189-1G>T	9.37:g.2820099C>A						KIAA0020_uc010mhc.1_Splice_Site_p.G396_splice|KIAA0020_uc003zhq.1_Splice_Site_p.G396_splice	p.G397_splice	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	13	1285	-								A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Splice_Site	SNP	ENST00000397885.2	37	c.1189_splice	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133190	0.77662	.	.	ENSG00000080608	ENST00000397885	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.843	0.88720	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0020	2810099	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	6.855000	0.75445	2.208000	0.71279	0.561000	0.74099	.		0.403	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	Intron	10	97	1	0	2.31682e-05	0.003163	2.57425e-05	10	97				
GLDC	2731	broad.mit.edu	37	9	6534776	6534776	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:6534776A>G	ENST00000321612.6	-	24	3001	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	951					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.S951P(2)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CAGGTCAGGGAGTGTGGAGAC	0.537																																							uc003zkc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2851-2853)TCC>CCC		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						105.0	79.0	88.0					9																	6534776		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6534776A>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2851T>C	9.37:g.6534776A>G	ENSP00000370737:p.Ser951Pro						p.S951P	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	24	3044	-		Acute lymphoblastic leukemia(23;0.161)	951					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2851T>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233805	0.39498	.	.	ENSG00000178445	ENST00000321612	D	0.86694	-2.16	5.37	5.37	0.77165	Pyridoxal phosphate-dependent transferase, major domain (1);	0.100351	0.64402	D	0.000001	T	0.75796	0.3898	N	0.13198	0.31	0.46131	D	0.998887	B	0.06786	0.001	B	0.04013	0.001	T	0.71407	-0.4602	10	0.46703	T	0.11	-18.8711	9.3722	0.38261	0.7319:0.0:0.0:0.2681	.	951	P23378	GCSP_HUMAN	P	951	ENSP00000370737:S951P	ENSP00000370737:S951P	S	-	1	0	GLDC	6524776	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.062000	0.57492	2.155000	0.67459	0.459000	0.35465	TCC		0.537	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		9	122	0	0	0	0.006214	0	9	122				
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:8460541G>T	ENST00000381196.4	-	30	4288	c.3745C>A	c.(3745-3747)Ccc>Acc	p.P1249T	PTPRD_ENST00000486161.1_Missense_Mutation_p.P838T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1227T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1249T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P835T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1249T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P828T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1236T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P835T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P828T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P838T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					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.P1249T(4)|p.P720T(2)|p.P838T(2)		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)		GACACCACGGGGTCGGAGTAA	0.433										TSP Lung(15;0.13)																													uc003zkk.2		NA																	8	Substitution - Missense(8)		lung(8)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3745-3747)CCC>ACC		protein tyrosine phosphatase, receptor type, D							124.0	113.0	117.0					9																	8460541		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460541G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3745C>A	9.37:g.8460541G>T	ENSP00000370593:p.Pro1249Thr	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.P838T|PTPRD_uc003zkq.2_Missense_Mutation_p.P838T|PTPRD_uc003zkr.2_Missense_Mutation_p.P833T|PTPRD_uc003zks.2_Missense_Mutation_p.P828T|PTPRD_uc003zkl.2_Missense_Mutation_p.P1240T|PTPRD_uc003zkm.2_Missense_Mutation_p.P1236T|PTPRD_uc003zkn.2_Missense_Mutation_p.P838T|PTPRD_uc003zko.2_Missense_Mutation_p.P835T	p.P1249T	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)	32	4456	-		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)	1249			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3745C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379758	0.42207	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.89	5.89	0.94794	.	0.108350	0.64402	D	0.000005	T	0.51991	0.1707	L	0.61036	1.89	0.58432	D	0.999993	B;B;B;B;B;B;B;B;B	0.30634	0.012;0.19;0.19;0.19;0.036;0.288;0.063;0.0;0.001	B;B;B;B;B;B;B;B;B	0.32342	0.006;0.068;0.068;0.068;0.083;0.144;0.05;0.001;0.003	T	0.46048	-0.9219	9	.	.	.	.	15.4828	0.75542	0.0:0.0:0.8608:0.1392	.	828;833;838;838;835;835;1236;1249;1249	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1249;1249;1236;1227;838;828;835;835;720;1249;838;828	ENSP00000370593:P1249T;ENSP00000348812:P1249T;ENSP00000353187:P1236T;ENSP00000351293:P1227T;ENSP00000347373:P838T;ENSP00000380741:P828T;ENSP00000380735:P835T;ENSP00000440515:P835T;ENSP00000438164:P1249T;ENSP00000417093:P838T;ENSP00000380731:P828T	.	P	-	1	0	PTPRD	8450541	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.297000	0.65704	2.788000	0.95919	0.557000	0.71058	CCC		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			37	389	1	0	1.47197e-15	0.007835	1.97237e-15	37	389				
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:14784421C>A	ENST00000380880.3	-	24	5172	c.4389G>T	c.(4387-4389)caG>caT	p.Q1463H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q1463H|FREM1_ENST00000380881.4_Missense_Mutation_p.Q1464H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1463					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.Q1464H(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAAACTGTCTGCCCCACTA	0.458																																							uc003zlm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(4387-4389)CAG>CAT		FRAS1 related extracellular matrix 1 precursor							101.0	97.0	98.0					9																	14784421		1927	4134	6061	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14784421C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4389G>T	9.37:g.14784421C>A	ENSP00000370262:p.Gln1463His					FREM1_uc010mic.2_Intron	p.Q1463H	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	24	4979	-			1463			CSPG 10.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4389G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	5.930	0.355560	0.11239	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.51574	0.7;0.7;0.7	5.53	3.67	0.42095	.	0.230920	0.45867	D	0.000331	T	0.35682	0.0940	L	0.38838	1.175	0.36410	D	0.863643	B	0.12630	0.006	B	0.12837	0.008	T	0.29579	-1.0007	10	0.33940	T	0.23	-1.4331	9.876	0.41205	0.0:0.667:0.2633:0.0698	.	1463	Q5H8C1	FREM1_HUMAN	H	1464;1463;1463	ENSP00000370263:Q1464H;ENSP00000412940:Q1463H;ENSP00000370262:Q1463H	ENSP00000370262:Q1463H	Q	-	3	2	FREM1	14774421	0.980000	0.34600	0.994000	0.49952	0.013000	0.08279	0.168000	0.16622	0.790000	0.33803	-0.274000	0.10170	CAG		0.458	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		52	137	1	0	1.4709e-25	0.00361	2.24375e-25	52	137				
CCDC171	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:15745522A>C	ENST00000380701.3	+	18	2892	c.2564A>C	c.(2563-2565)aAg>aCg	p.K855T	CCDC171_ENST00000297641.3_Missense_Mutation_p.K855T	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	855								p.K855T(2)|p.K122T(2)									GAACATCAAAAGGAGCAGTTG	0.333																																							uc003zmd.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(2563-2565)AAG>ACG		hypothetical protein LOC203238							147.0	147.0	147.0					9																	15745522		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15745522A>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2564A>C	9.37:g.15745522A>C	ENSP00000370077:p.Lys855Thr					C9orf93_uc003zme.2_Missense_Mutation_p.K770T|C9orf93_uc011lmu.1_Missense_Mutation_p.K863T|C9orf93_uc003zmf.1_Missense_Mutation_p.K163T	p.K855T	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	18	2879	+			855					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.2564A>C	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787433	0.31593	.	.	ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701	T;T	0.15718	2.4;2.41	5.03	1.11	0.20524	.	0.449653	0.24894	N	0.034758	T	0.08935	0.0221	N	0.19112	0.55	0.80722	D	1	B;B;B	0.12013	0.005;0.003;0.0	B;B;B	0.08055	0.003;0.002;0.002	T	0.24404	-1.0161	10	0.24483	T	0.36	-6.3116	7.2466	0.26125	0.7311:0.1571:0.1117:0.0	.	863;122;855	B7ZM22;A6NK04;Q6TFL3	.;.;CI093_HUMAN	T	855;122;855	ENSP00000297641:K855T;ENSP00000370077:K855T	ENSP00000297641:K855T	K	+	2	0	C9orf93	15735522	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	2.191000	0.42640	0.304000	0.22809	0.482000	0.46254	AAG		0.333	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		133	416	0	0	0	0.00361	0	133	416				
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:27556699C>T	ENST00000380003.3	-	8	1014	c.951G>A	c.(949-951)caG>caA	p.Q317Q	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	317					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.Q317Q(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AGGGTGGCATCTGCTTCACAG	0.473																																							uc003zqq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(949-951)CAG>CAA		hypothetical protein LOC203228 isoform a							190.0	174.0	180.0					9																	27556699		2203	4300	6503	SO:0001819	synonymous_variant	203228							g.chr9:27556699C>T	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.951G>A	9.37:g.27556699C>T							p.Q317Q	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	8	1048	-		all_neural(11;7.57e-10)	317					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	c.951G>A	CCDS6522.1																																																																																				0.473	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		12	176	0	0	0	0.003163	0	12	176				
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32544246C>G	ENST00000360538.2	-	3	393	c.277G>C	c.(277-279)Gta>Cta	p.V93L	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V93L(2)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGCTGGTACTGTCTGTTGC	0.373																																							uc003zrb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(277-279)GTA>CTA		topoisomerase I binding, arginine/serine-rich							76.0	79.0	78.0					9																	32544246		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544246C>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.277G>C	9.37:g.32544246C>G	ENSP00000353735:p.Val93Leu					TOPORS_uc003zrc.2_Missense_Mutation_p.V26L	p.V93L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	444	-			93			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.277G>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207574	0.39003	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15256	2.49;2.44	5.39	4.48	0.54585	.	0.000000	0.43919	D	0.000507	T	0.07413	0.0187	N	0.08118	0	0.34843	D	0.74092	P	0.39480	0.675	B	0.35413	0.202	T	0.28933	-1.0028	10	0.20519	T	0.43	-19.6947	9.7869	0.40681	0.0:0.8502:0.0:0.1498	.	93	Q9NS56	TOPRS_HUMAN	L	93;28	ENSP00000353735:V93L;ENSP00000369187:V28L	ENSP00000353735:V93L	V	-	1	0	TOPORS	32534246	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	2.350000	0.44063	2.695000	0.91970	0.655000	0.94253	GTA		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	102	0	0	0	0.006214	0	7	102				
TAF1L	138474	broad.mit.edu	37	9	32633786	32633787	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32633786_32633787CC>AA	ENST00000242310.4	-	1	1880_1881	c.1791_1792GG>TT	c.(1789-1794)caGGgt>caTTgt	p.597_598QG>HC	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	597					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTGG	0.48																																							uc003zrg.1		NA																	2	Complex - compound substitution(2)		lung(2)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1789-1794)CAGGGT>CATTGT		TBP-associated factor RNA polymerase 1-like																																				SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633786_32633787CC>AA	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1791_1792delinsAA	9.37:g.32633786_32633787delinsAA	ENSP00000418379:p.Q597_G598delinsHC					uc003zrh.1_RNA	p.597_598QG>HC	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1881_1882	-			597_598					Q0VG57	Missense_Mutation	DNP	ENST00000242310.4	37	c.1791_1792GG>TT	CCDS35003.1																																																																																				0.480	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			137	331	0	0	0	0.004672	0	137	331				
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:35045842C>A	ENST00000312292.5	+	2	3263	c.3216C>A	c.(3214-3216)ccC>ccA	p.P1072P	C9orf131_ENST00000421362.2_Silent_p.P1024P|C9orf131_ENST00000354479.5_Silent_p.P999P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1072								p.P1072P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCATCGACCCCTACCCACCA	0.517																																							uc003zvw.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(3214-3216)CCC>CCA		hypothetical protein LOC138724 isoform A							146.0	141.0	143.0					9																	35045842		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35045842C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.3216C>A	9.37:g.35045842C>A						C9orf131_uc003zvu.2_Silent_p.P1024P|C9orf131_uc003zvv.2_Silent_p.P999P|C9orf131_uc003zvx.2_Silent_p.P1037P	p.P1072P	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	3245	+	all_epithelial(49;0.22)		1072					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.3216C>A	CCDS6572.2																																																																																				0.517	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		116	393	1	0	5.22802e-61	0.00361	9.52151e-61	116	393				
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:38414155C>A	ENST00000377694.1	-	2	528	c.506G>T	c.(505-507)gGg>gTg	p.G169V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	169	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)		p.G169V(2)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CACCTGCGCCCCGGTGACGTT	0.577																																							uc004aba.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(505-507)GGG>GTG		insulin-like growth factor binding protein-like							124.0	105.0	111.0					9																	38414155		2203	4300	6503	SO:0001583	missense	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38414155C>A		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.506G>T	9.37:g.38414155C>A	ENSP00000366923:p.Gly169Val						p.G169V	NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	2	529	-			169			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000377694.1	37	c.506G>T	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612627	0.66672	.	.	ENSG00000137142	ENST00000377694	T	0.81415	-1.49	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44902	U	0.000419	D	0.93291	0.7862	H	0.98005	4.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95307	0.8408	10	0.87932	D	0	.	13.8611	0.63561	0.0:1.0:0.0:0.0	.	169	Q8WX77	IBPL1_HUMAN	V	169	ENSP00000366923:G169V	ENSP00000366923:G169V	G	-	2	0	IGFBPL1	38404155	0.988000	0.35896	0.549000	0.28204	0.679000	0.39708	4.860000	0.62961	2.339000	0.79563	0.563000	0.77884	GGG		0.577	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		15	76	1	0	4.35082e-09	0.010504	5.21519e-09	15	76				
SPATA31A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:40702834A>C	ENST00000356699.5	+	4	520	c.491A>C	c.(490-492)gAt>gCt	p.D164A	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	164	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D164A(4)									CATCCTCAGGATCTGGCCTCC	0.587																																							uc010mmj.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(490-492)GAT>GCT		hypothetical protein LOC727830							35.0	42.0	40.0					9																	40702834		1903	4100	6003	SO:0001583	missense	727830					integral to membrane		g.chr9:40702834A>C			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.491A>C	9.37:g.40702834A>C	ENSP00000349132:p.Asp164Ala						p.D164A	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	520	+			164			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.491A>C	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	A	0.175	-1.067784	0.01934	.	.	ENSG00000147926	ENST00000356699	T	0.04317	3.65	2.19	-1.07	0.09968	.	3.930080	0.00819	N	0.001570	T	0.03095	0.0091	N	0.22421	0.69	0.09310	N	1	B	0.18013	0.025	B	0.17098	0.017	T	0.32719	-0.9896	10	0.06365	T	0.9	0.3962	2.2476	0.04035	0.2503:0.4255:0.0:0.3242	.	164	Q5VYP0	F75A3_HUMAN	A	164	ENSP00000349132:D164A	ENSP00000349132:D164A	D	+	2	0	FAM75A3	40692834	0.020000	0.18652	0.002000	0.10522	0.019000	0.09904	-0.177000	0.09796	-0.262000	0.09392	-0.836000	0.03065	GAT		0.587	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		81	373	0	0	0	0.00361	0	81	373				
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	C	T	rs368133001		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:40702836C>T	ENST00000356699.5	+	4	522	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	165	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587																																							uc010mmj.2		NA																	6	Substitution - coding silent(4)|Substitution - Missense(2)		lung(6)	ovary(2)|skin(1)	3						c.(493-495)CTG>TTG		hypothetical protein LOC727830							33.0	40.0	37.0					9																	40702836		1896	4097	5993	SO:0001819	synonymous_variant	727830					integral to membrane		g.chr9:40702836C>T			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.493C>T	9.37:g.40702836C>T							p.L165L	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	522	+			165			Pro-rich.			Silent	SNP	ENST00000356699.5	37	c.493C>T	CCDS47969.1																																																																																				0.587	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		74	354	0	0	0	0.00361	0	74	354				
PRUNE2	158471	broad.mit.edu	37	9	79234264	79234264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:79234264C>A	ENST00000376718.3	-	18	9351	c.9228G>T	c.(9226-9228)atG>atT	p.M3076I	PRUNE2_ENST00000443509.2_Missense_Mutation_p.M325I|PRUNE2_ENST00000428286.1_Missense_Mutation_p.M2718I|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Intron	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3076					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.M3076I(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTCCTTCTCCATAGAAGACA	0.428																																							uc010mpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(9226-9228)ATG>ATT		prune homolog 2							92.0	75.0	81.0					9																	79234264		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79234264C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.9228G>T	9.37:g.79234264C>A	ENSP00000365908:p.Met3076Ile					PRUNE2_uc011lsk.1_Missense_Mutation_p.M325I|PRUNE2_uc011lsl.1_Missense_Mutation_p.M340I|PRUNE2_uc011lsm.1_Intron|PRUNE2_uc004akj.3_Missense_Mutation_p.M530I	p.M3076I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			18	9352	-			3076					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.9228G>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504594	0.44558	.	.	ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866	T;T;T;T;T	0.53206	0.98;0.93;0.93;1.0;0.63	5.19	4.29	0.51040	.	0.465264	0.24254	N	0.040142	T	0.30696	0.0773	N	0.24115	0.695	0.27989	N	0.93575	B;B;B	0.29716	0.002;0.0;0.255	B;B;B	0.24974	0.004;0.001;0.057	T	0.13045	-1.0524	10	0.20519	T	0.43	-5.7425	11.5953	0.50970	0.1398:0.7256:0.1346:0.0	.	340;325;3076	Q8WUY3-5;B4DJW7;Q8WUY3	.;.;PRUN2_HUMAN	I	341;3076;2718;296;325;248	ENSP00000365907:M341I;ENSP00000365908:M3076I;ENSP00000397425:M2718I;ENSP00000393843:M325I;ENSP00000393657:M248I	ENSP00000365907:M341I	M	-	3	0	PRUNE2	78424084	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.776000	0.47709	1.153000	0.42468	0.555000	0.69702	ATG		0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	66	1	0	0.00116845	0.001168	0.00123961	5	66				
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:80537207C>A	ENST00000286548.4	-	2	413	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	64					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.G64V(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTATCCTGACCCATGGATGAT	0.483			Mis		uveal melanoma																																		uc004akw.2		NA		Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		2	Substitution - Missense(2)		lung(2)	eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						c.(190-192)GGG>GTG		guanine nucleotide binding protein (G protein),							232.0	210.0	217.0					9																	80537207		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537207C>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.191G>T	9.37:g.80537207C>A	ENSP00000286548:p.Gly64Val						p.G64V	NM_002072	NP_002063	P50148	GNAQ_HUMAN			2	232	-			64					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.191G>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078346	0.94000	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.89050	-2.46;-2.46	5.87	5.87	0.94306	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94088	0.7350	10	0.66056	D	0.02	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	64	P50148	GNAQ_HUMAN	V	64;35	ENSP00000286548:G64V;ENSP00000391501:G35V	ENSP00000286548:G64V	G	-	2	0	GNAQ	79727027	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGG		0.483	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		181	634	1	0	4.16634e-53	0.00361	7.34037e-53	181	634				
CEP78	84131	broad.mit.edu	37	9	80869847	80869847	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:80869847T>C	ENST00000424347.2	+	11	1636	c.1347T>C	c.(1345-1347)ccT>ccC	p.P449P	CEP78_ENST00000415759.2_Silent_p.P450P|CEP78_ENST00000376598.2_Silent_p.P449P|CEP78_ENST00000277082.5_Silent_p.P449P|CEP78_ENST00000376597.4_Silent_p.P450P|CEP78_ENST00000487108.2_3'UTR			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	449					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.P449P(1)|p.P450P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ATGAAGTGCCTGAGAAAACTA	0.378																																							uc004akx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1345-1347)CCT>CCC		centrosomal protein 78kDa isoform b							90.0	85.0	86.0					9																	80869847		1849	4087	5936	SO:0001819	synonymous_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80869847T>C	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1347T>C	9.37:g.80869847T>C						CEP78_uc004aky.3_Silent_p.P450P|CEP78_uc010mpp.2_Silent_p.P450P	p.P449P	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			11	1623	+			449					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37	c.1347T>C																																																																																					0.378	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		3	80	0	0	0	0.009096	0	3	80				
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:86506225T>A	ENST00000297814.2	-	6	1937	c.1794A>T	c.(1792-1794)agA>agT	p.R598S	KIF27_ENST00000376347.1_5'Flank|KIF27_ENST00000413982.1_Missense_Mutation_p.R598S|KIF27_ENST00000334204.2_Missense_Mutation_p.R598S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R598S(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGAATCTTGTCTTGATGGGA	0.358																																							uc004ana.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|skin(1)	5						c.(1792-1794)AGA>AGT		kinesin family member 27							95.0	98.0	97.0					9																	86506225		2202	4300	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86506225T>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1794A>T	9.37:g.86506225T>A	ENSP00000297814:p.Arg598Ser					KIF27_uc010mpw.2_Missense_Mutation_p.R598S|KIF27_uc010mpx.2_Missense_Mutation_p.R598S	p.R598S	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			6	1938	-			598					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1794A>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.623109	0.28889	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.48201	0.82;0.82;0.82	4.73	1.06	0.20224	.	0.657974	0.14187	N	0.335634	T	0.34106	0.0886	L	0.44542	1.39	0.28400	N	0.918691	P;P;B	0.43352	0.557;0.804;0.255	B;B;B	0.39152	0.116;0.292;0.078	T	0.16305	-1.0407	10	0.36615	T	0.2	.	5.8667	0.18779	0.0:0.4614:0.0:0.5386	.	598;598;598	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	S	598	ENSP00000297814:R598S;ENSP00000401688:R598S;ENSP00000333928:R598S	ENSP00000297814:R598S	R	-	3	2	KIF27	85696045	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	0.746000	0.26275	0.323000	0.23307	-0.263000	0.10527	AGA		0.358	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		22	163	0	0	0	0.004656	0	22	163				
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:86570403C>A	ENST00000376344.3	-	2	706	c.490G>T	c.(490-492)Gga>Tga	p.G164*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.G23*|C9orf64_ENST00000376340.2_Nonsense_Mutation_p.G23*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	164								p.G164*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAAGAGCCTCCAAACTTCTCC	0.443																																							uc004anb.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(490-492)GGA>TGA		hypothetical protein LOC84267							78.0	78.0	78.0					9																	86570403		2203	4300	6503	SO:0001587	stop_gained	84267							g.chr9:86570403C>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.490G>T	9.37:g.86570403C>A	ENSP00000365522:p.Gly164*					C9orf64_uc004anc.2_Nonsense_Mutation_p.G23*	p.G164*	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			2	738	-			164					B2RPI6|Q8N2B1|Q9BT18	Nonsense_Mutation	SNP	ENST00000376344.3	37	c.490G>T	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	38	7.014615	0.98002	.	.	ENSG00000165118	ENST00000376344;ENST00000314700;ENST00000376340	.	.	.	5.7	4.79	0.61399	.	0.220504	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-5.596	16.6468	0.85178	0.0:0.8699:0.1301:0.0	.	.	.	.	X	164;23;23	.	ENSP00000318375:G23X	G	-	1	0	C9orf64	85760223	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.666000	0.68059	1.392000	0.46585	0.557000	0.71058	GGA		0.443	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		14	43	1	0	0.00316338	0.003163	0.00333312	14	43				
SPATA31C2	645961	broad.mit.edu	37	9	90747884	90747884	+	IGR	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:90747884T>C								U6 (134634 upstream) : U3 (241299 downstream)																							GCCTCACCTCTGCAGTTGTGA	0.627																																							uc011lti.1		NA																	0					NA						c.(322-324)CAG>CGG		SubName: Full=cDNA FLJ59639;																																				SO:0001628	intergenic_variant	0							g.chr9:90747884T>C																													9.37:g.90747884T>C							p.Q108R							3	352	-									Missense_Mutation	SNP		37	c.323A>G																																																																																				0	0.627									13	302	0	0	0	0.006122	0	13	302				
NFIL3	4783	broad.mit.edu	37	9	94172835	94172835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:94172835C>A	ENST00000297689.3	-	2	576	c.182G>T	c.(181-183)cGg>cTg	p.R61L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	61					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R61L(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CCGTTTCCTCCGACATGCAGA	0.433																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	Esophageal Squamous(152;732 1832 10053 26981 51762)	uc004arh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(181-183)CGG>CTG		nuclear factor, interleukin 3 regulated							188.0	186.0	187.0					9																	94172835		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172835C>A	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.182G>T	9.37:g.94172835C>A	ENSP00000297689:p.Arg61Leu						p.R61L	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			2	577	-			61					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.182G>T	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304553	0.81136	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.89	3.99	0.46301	.	0.000000	0.64402	D	0.000005	T	0.64349	0.2590	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.68432	-0.5410	9	0.87932	D	0	-14.8317	13.5677	0.61828	0.0:0.9248:0.0:0.0752	.	61	Q16649	NFIL3_HUMAN	L	61	.	ENSP00000297689:R61L	R	-	2	0	NFIL3	93212656	1.000000	0.71417	0.760000	0.31359	0.981000	0.71138	7.171000	0.77595	1.424000	0.47217	0.561000	0.74099	CGG		0.433	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		52	231	1	0	2.84144e-21	0.00361	4.13578e-21	52	231				
OGN	4969	broad.mit.edu	37	9	95165620	95165621	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:95165620_95165621GG>TT	ENST00000262551.4	-	2	489_490	c.69_70CC>AA	c.(67-72)acCCag>acAAag	p.Q24K	OGN_ENST00000375561.5_Missense_Mutation_p.Q24K|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	24					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGTCCTGCTGGGTTGGTGGTG	0.381																																							uc004asa.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(67-72)ACCCAG>ACAAAG		osteoglycin preproprotein																																				SO:0001583	missense	4969					extracellular space|proteinaceous extracellular matrix	growth factor activity	g.chr9:95165620_95165621GG>TT	AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.69_70delinsTT	9.37:g.95165620_95165621delinsTT	ENSP00000262551:p.Gln24Lys					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Missense_Mutation_p.Q24K|OGN_uc011ltx.1_Missense_Mutation_p.Q42K	p.Q24K	NM_014057	NP_054776	P20774	MIME_HUMAN			2	304_305	-			24					Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	DNP	ENST00000262551.4	37	c.69_70CC>AA	CCDS6695.1																																																																																				0.381	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416		34	85	0	0	0	0.004672	0	34	85				
FAM120A	23196	broad.mit.edu	37	9	96318676	96318676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:96318676G>T	ENST00000277165.6	+	13	2481	c.2287G>T	c.(2287-2289)Gat>Tat	p.D763Y	FAM120A_ENST00000333936.5_Missense_Mutation_p.D791Y|FAM120A_ENST00000340893.4_Missense_Mutation_p.D763Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	763						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.D763Y(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAACCTAGATCCCCGAGG	0.388																																							uc004atw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2287-2289)GAT>TAT		oxidative stress-associated Src activator							102.0	107.0	106.0					9																	96318676		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96318676G>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2287G>T	9.37:g.96318676G>T	ENSP00000277165:p.Asp763Tyr					FAM120A_uc004aty.2_Missense_Mutation_p.D544Y|FAM120A_uc004atz.2_Missense_Mutation_p.D412Y|FAM120A_uc010mrg.2_Missense_Mutation_p.D76Y	p.D763Y	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			13	2312	+			763					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.2287G>T	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693359	0.88735	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.68	5.68	0.88126	.	0.067678	0.64402	D	0.000013	T	0.64103	0.2568	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.91635	0.999;0.988;0.991	T	0.64837	-0.6313	10	0.87932	D	0	-24.4483	19.7959	0.96481	0.0:0.0:1.0:0.0	.	763;791;763	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	Y	763;791;763;185	ENSP00000277165:D763Y;ENSP00000334918:D791Y;ENSP00000344698:D763Y;ENSP00000412440:D185Y	ENSP00000277165:D763Y	D	+	1	0	FAM120A	95358497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.689000	0.91719	0.655000	0.94253	GAT		0.388	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		6	94	1	0	0.00116845	0.001168	0.00123961	6	94				
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:100693342C>A	ENST00000259456.3	-	4	478	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.G112V(2)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTTATGCTCCCAGGTGGCTC	0.423																																							uc004axy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(334-336)GGG>GTG		hemogen							126.0	114.0	118.0					9																	100693342		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693342C>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.335G>T	9.37:g.100693342C>A	ENSP00000259456:p.Gly112Val					HEMGN_uc004axz.2_Missense_Mutation_p.G112V	p.G112V	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	443	-		Acute lymphoblastic leukemia(62;0.0559)	112					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.335G>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550141	0.27652	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.84	1.61	0.23674	.	1.016870	0.07848	N	0.964164	T	0.31702	0.0805	L	0.38175	1.15	0.09310	N	1	B	0.26147	0.143	B	0.20184	0.028	T	0.27157	-1.0082	9	0.48119	T	0.1	2.3741	6.934	0.24457	0.3564:0.4705:0.1732:0.0	.	112	Q9BXL5	HEMGN_HUMAN	V	112	.	ENSP00000259456:G112V	G	-	2	0	HEMGN	99733163	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.132000	0.10467	0.689000	0.31550	0.591000	0.81541	GGG		0.423	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		7	64	1	0	0.000157383	0.00308	0.000172213	7	64				
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:101817383G>T	ENST00000375001.3	+	33	3454		c.e33-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTTTTTCAGGTCCTCCACT	0.353																																							uc004azb.1		NA																	2	Unknown(2)		lung(2)	ovary(6)	6						c.e33-1		alpha 1 type XV collagen precursor							197.0	198.0	198.0					9																	101817383		2203	4300	6503	SO:0001630	splice_region_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101817383G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3032-1G>T	9.37:g.101817383G>T							p.G1011_splice	NM_001855	NP_001846	P39059	COFA1_HUMAN			33	3238	+		Acute lymphoblastic leukemia(62;0.0562)						Q5T6J4|Q9UDC5|Q9Y4W4	Splice_Site	SNP	ENST00000375001.3	37	c.3032_splice	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890347	0.72524	.	.	ENSG00000204291	ENST00000375001	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0962	0.72235	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL15A1	100857204	.	.	1.000000	0.80357	0.927000	0.56198	.	.	2.722000	0.93159	0.655000	0.94253	.		0.353	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Intron	17	255	1	0	1.10513e-12	0.002299	1.42089e-12	17	255				
GRIN3A	116443	broad.mit.edu	37	9	104356802	104356802	+	Intron	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:104356802G>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.D137E	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.D137E(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGATGGTTTTGTCGACCAGCT	0.522																																							uc004bbr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(409-411)GAC>GAA		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						115.0	101.0	106.0					9																	104356802		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356802G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15160C>A	9.37:g.104356802G>T						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	p.D137E	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	482	-		Acute lymphoblastic leukemia(62;0.0527)	134			EF-hand 4.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.411C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258247	0.80246	.	.	ENSG00000188386	ENST00000374806	T	0.71222	-0.55	3.97	3.97	0.46021	EF-hand-like domain (1);	0.000000	0.44483	D	0.000457	T	0.69169	0.3081	N	0.13168	0.305	0.38205	D	0.940292	D	0.57899	0.981	P	0.61328	0.887	T	0.76677	-0.2871	10	0.87932	D	0	-28.5716	14.3488	0.66685	0.0:0.0:1.0:0.0	.	134	Q96LZ3	CANB2_HUMAN	E	137	ENSP00000363939:D137E	ENSP00000363939:D137E	D	-	3	2	PPP3R2	103396623	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.192000	0.42649	2.507000	0.84556	0.563000	0.77884	GAC		0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			11	80	1	0	9.70103e-10	0.008291	1.17325e-09	11	80				
OR13C4	138804	broad.mit.edu	37	9	107288712	107288712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107288712G>T	ENST00000277216.3	-	1	778	c.779C>A	c.(778-780)gCa>gAa	p.A260E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A260E(3)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTAGGTTTTGCATACATAAA	0.468																																							uc011lvn.1		NA																	3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(778-780)GCA>GAA		olfactory receptor, family 13, subfamily C,							101.0	93.0	96.0					9																	107288712		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288712G>T		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.779C>A	9.37:g.107288712G>T	ENSP00000277216:p.Ala260Glu						p.A260E	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	779	-			260			Extracellular (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.779C>A	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723309	0.30503	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.37915	1.17	3.89	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.339072	0.21330	U	0.076308	T	0.36248	0.0960	M	0.71206	2.165	0.09310	N	0.999999	P	0.46952	0.887	B	0.44133	0.442	T	0.37079	-0.9721	10	0.66056	D	0.02	.	5.3219	0.15885	0.232:0.0:0.768:0.0	.	260	Q8NGS5	O13C4_HUMAN	E	260;289	ENSP00000277216:A260E	ENSP00000277216:A260E	A	-	2	0	OR13C4	106328533	0.000000	0.05858	0.976000	0.42696	0.600000	0.36913	0.067000	0.14510	2.136000	0.66102	0.460000	0.39030	GCA		0.468	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			16	201	1	0	1.15088e-07	0.004007	1.33507e-07	16	201				
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	C	A	rs141723124	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107361248C>A	ENST00000374779.2	-	1	540	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W149C(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCTATGATCCAGGACCCAG	0.458																																							uc011lvp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(445-447)TGG>TGT		olfactory receptor, family 13, subfamily C,							128.0	121.0	123.0					9																	107361248		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361248C>A		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.447G>T	9.37:g.107361248C>A	ENSP00000363911:p.Trp149Cys						p.W149C	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	447	-			149			Helical; Name=4; (Potential).		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.447G>T	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021740	0.54576	.	.	ENSG00000255800	ENST00000374779	T	0.59638	0.25	4.17	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35235	U	0.003354	T	0.77301	0.4110	M	0.88906	2.99	0.51767	D	0.99993	D	0.89917	1.0	D	0.91635	0.999	T	0.80311	-0.1436	10	0.87932	D	0	.	10.9509	0.47327	0.1888:0.8111:0.0:0.0	.	149	Q8NGS8	O13C5_HUMAN	C	149	ENSP00000363911:W149C	ENSP00000363911:W149C	W	-	3	0	OR13C5	106401069	0.000000	0.05858	0.485000	0.27403	0.270000	0.26580	0.258000	0.18387	0.957000	0.37930	-0.431000	0.05894	TGG		0.458	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		51	594	1	0	6.34439e-16	0.00361	8.57565e-16	51	594				
OR13C2	392376	broad.mit.edu	37	9	107367610	107367610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107367610T>A	ENST00000542196.1	-	1	341	c.299A>T	c.(298-300)cAg>cTg	p.Q100L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAGGAACATCTGCACTGCACA	0.522																																							uc011lvq.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(298-300)CAG>CTG		olfactory receptor, family 13, subfamily C,							147.0	133.0	138.0					9																	107367610		2203	4300	6503	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367610T>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.299A>T	9.37:g.107367610T>A	ENSP00000438815:p.Gln100Leu						p.Q100L	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	299	-			100			Helical; Name=3; (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.299A>T	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880218	0.72294	.	.	ENSG00000257019	ENST00000542196	T	0.02103	4.45	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35151	U	0.003413	T	0.18257	0.0438	H	0.97158	3.95	0.35067	D	0.762163	D	0.76494	0.999	D	0.72982	0.979	T	0.41574	-0.9501	10	0.87932	D	0	.	10.0804	0.42386	0.0:0.0:0.0:1.0	.	100	Q8NGS9	O13C2_HUMAN	L	100	ENSP00000438815:Q100L	ENSP00000438815:Q100L	Q	-	2	0	OR13C2	106407431	1.000000	0.71417	0.668000	0.29813	0.957000	0.61999	5.921000	0.70028	1.475000	0.48197	0.379000	0.24179	CAG		0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		20	441	0	0	0	0.00361	0	20	441				
OR13C2	392376	broad.mit.edu	37	9	107367620	107367620	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107367620A>T	ENST00000542196.1	-	1	331	c.289T>A	c.(289-291)Tgt>Agt	p.C97S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCACTGCACAGCCAGAAAGG	0.532																																							uc011lvq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(289-291)TGT>AGT		olfactory receptor, family 13, subfamily C,							119.0	111.0	114.0					9																	107367620		2203	4300	6503	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367620A>T		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.289T>A	9.37:g.107367620A>T	ENSP00000438815:p.Cys97Ser						p.C97S	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	289	-			97			Extracellular (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.289T>A	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108973	0.56398	.	.	ENSG00000257019	ENST00000542196	T	0.00540	6.7	3.53	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	U	0.001108	T	0.03434	0.0099	H	0.98133	4.155	0.37397	D	0.91269	D	0.89917	1.0	D	0.74674	0.984	T	0.02156	-1.1204	10	0.87932	D	0	.	7.1674	0.25698	0.8001:0.0:0.0:0.1999	.	97	Q8NGS9	O13C2_HUMAN	S	97	ENSP00000438815:C97S	ENSP00000438815:C97S	C	-	1	0	OR13C2	106407441	1.000000	0.71417	0.024000	0.17045	0.865000	0.49528	7.060000	0.76692	0.417000	0.25871	0.379000	0.24179	TGT		0.532	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		9	379	0	0	0	0.00361	0	9	379				
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:108136969G>T	ENST00000374720.3	+	13	1832	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	SLC44A1_ENST00000374724.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V321L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	529					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.V529L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTTTGCGAGTGGCTACCAT	0.393																																							uc004bcn.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)	4						c.(1585-1587)GTG>TTG		CDW92 antigen	Choline(DB00122)						172.0	155.0	161.0					9																	108136969		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108136969G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1585G>T	9.37:g.108136969G>T	ENSP00000363852:p.Val529Leu					SLC44A1_uc010mtk.1_Missense_Mutation_p.V529L|SLC44A1_uc004bco.1_Missense_Mutation_p.V321L	p.V529L	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			13	1806	+			529			Mitochondrial intermembrane (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1585G>T	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699372	0.88830	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.75884	2.315	0.80722	D	1	B;B;D	0.89917	0.313;0.313;1.0	B;B;D	0.85130	0.209;0.209;0.997	T	0.48670	-0.9015	10	0.41790	T	0.15	0.2282	19.834	0.96648	0.0:0.0:1.0:0.0	.	529;529;529	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	L	529;529;529;321	ENSP00000363855:V529L;ENSP00000363852:V529L;ENSP00000363856:V529L;ENSP00000341856:V321L	ENSP00000341856:V321L	V	+	1	0	SLC44A1	107176790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.298000	0.96132	2.681000	0.91329	0.655000	0.94253	GTG		0.393	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		109	310	1	0	7.82945e-61	0.00361	1.42354e-60	109	310				
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:113563158C>A	ENST00000374448.4	+	15	2634	c.2500C>A	c.(2500-2502)Ctc>Atc	p.L834I	MUSK_ENST00000416899.2_Missense_Mutation_p.L826I|MUSK_ENST00000189978.5_Missense_Mutation_p.L834I	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.L834I(2)		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						GCTGTACAATCTCATGCGTCT	0.542																																							uc004bey.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2500-2502)CTC>ATC		skeletal muscle receptor tyrosine kinase							51.0	50.0	51.0					9																	113563158		2062	4190	6252	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113563158C>A	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.2500C>A	9.37:g.113563158C>A	ENSP00000363571:p.Leu834Ile					MUSK_uc004bez.1_Missense_Mutation_p.L414I	p.L834I	NM_005592	NP_005583	O15146	MUSK_HUMAN			14	2598	+			834			Protein kinase.|Cytoplasmic (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2500C>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956891	0.73902	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.83250	-1.7	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88009	0.6322	L	0.35723	1.085	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.88661	0.3189	10	0.87932	D	0	.	19.0078	0.92859	0.0:1.0:0.0:0.0	.	834	O15146	MUSK_HUMAN	I	840;834;834;748;748;832	ENSP00000363571:L834I	ENSP00000189978:L840I	L	+	1	0	MUSK	112602979	0.999000	0.42202	0.329000	0.25429	0.711000	0.40976	4.032000	0.57274	2.809000	0.96659	0.557000	0.71058	CTC		0.542	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				43	140	1	0	3.39706e-21	0.00361	4.92459e-21	43	140				
OR2K2	26248	broad.mit.edu	37	9	114090593	114090593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:114090593C>T	ENST00000374428.1	-	1	207	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	OR2K2_ENST00000302681.1_Missense_Mutation_p.G41S			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41S(1)|p.G70S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTGCTGTTGCCCAAGAGCGTT	0.413																																							uc011lwp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(121-123)GGC>AGC		olfactory receptor, family 2, subfamily K,							87.0	86.0	86.0					9																	114090593		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090593C>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.208G>A	9.37:g.114090593C>T	ENSP00000363550:p.Gly70Ser						p.G41S	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			1	121	-			70			Helical; Name=1; (Potential).		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.334931	0.81801	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00530	6.77;6.77	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	U	0.000902	T	0.02304	0.0071	M	0.88842	2.985	0.46376	D	0.999017	D	0.89917	1.0	D	0.97110	1.0	T	0.42582	-0.9443	10	0.87932	D	0	.	15.2182	0.73288	0.0:1.0:0.0:0.0	.	70	Q8NGT1	OR2K2_HUMAN	S	41;70	ENSP00000305055:G41S;ENSP00000363550:G70S	ENSP00000305055:G41S	G	-	1	0	OR2K2	113130414	0.666000	0.27475	0.923000	0.36655	0.708000	0.40852	4.469000	0.60169	2.528000	0.85240	0.655000	0.94253	GGC		0.413	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		18	473	0	0	0	0.002299	0	18	473				
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:114538232G>T	ENST00000318737.4	-	3	217	c.89C>A	c.(88-90)aCc>aAc	p.T30N	C9orf84_ENST00000374287.3_Missense_Mutation_p.T30N|C9orf84_ENST00000374283.5_Missense_Mutation_p.T94N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	30								p.T30N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAATCTGGGTCACCATTCT	0.318																																							uc004bfr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(88-90)ACC>AAC		hypothetical protein LOC158401 isoform 1							74.0	70.0	71.0					9																	114538232		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114538232G>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.89C>A	9.37:g.114538232G>T	ENSP00000322108:p.Thr30Asn					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.T94N	p.T30N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			3	224	-			30					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.89C>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803151	0.31869	.	.	ENSG00000165181	ENST00000374287;ENST00000318737;ENST00000374283	T;T;T	0.52295	3.42;3.42;0.67	4.6	1.05	0.20165	.	0.532223	0.15774	N	0.245264	T	0.28034	0.0691	N	0.24115	0.695	0.09310	N	1	B;B	0.22909	0.077;0.037	B;B	0.21917	0.037;0.018	T	0.15694	-1.0428	10	0.48119	T	0.1	1.3498	3.5687	0.07909	0.2017:0.0:0.5231:0.2752	.	94;30	Q5VXU9-2;Q5VXU9	.;CI084_HUMAN	N	30;30;94	ENSP00000363405:T30N;ENSP00000322108:T30N;ENSP00000363401:T94N	ENSP00000322108:T30N	T	-	2	0	C9orf84	113578053	0.001000	0.12720	0.000000	0.03702	0.953000	0.61014	0.291000	0.18994	0.012000	0.14892	0.585000	0.79938	ACC		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		25	102	1	0	7.26314e-15	0.007291	9.58948e-15	25	102				
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117027389C>T	ENST00000356083.3	+	31	3729	c.3338C>T	c.(3337-3339)cCt>cTt	p.P1113L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1113	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1113L(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGCTTTCCTGTAAGTAGC	0.547																																							uc011lxl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(3337-3339)CCT>CTT		collagen, type XXVII, alpha 1 precursor							84.0	90.0	88.0					9																	117027389		2203	4300	6503	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117027389C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3339+1C>T	9.37:g.117027389C>T						COL27A1_uc004bii.2_RNA	p.P1113L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			31	3338	+			1113			Pro-rich.|Collagen-like 8.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3338C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	9.035	0.988264	0.18966	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96685	-4.09	4.91	3.95	0.45737	.	.	.	.	.	D	0.94420	0.8205	M	0.86097	2.795	0.46631	D	0.999138	B	0.06786	0.001	B	0.14023	0.01	D	0.87502	0.2434	9	0.09338	T	0.73	.	6.738	0.23421	0.0:0.8468:0.0:0.1532	.	1113	Q8IZC6	CORA1_HUMAN	L	1113	ENSP00000348385:P1113L	ENSP00000348385:P1113L	P	+	2	0	COL27A1	116067210	0.065000	0.20965	0.543000	0.28128	0.031000	0.12232	0.253000	0.18296	1.041000	0.40125	0.561000	0.74099	CCT		0.547	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Missense_Mutation	26	46	0	0	0	0.003954	0	26	46				
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117826978A>C	ENST00000350763.4	-	11	3846	c.3435T>G	c.(3433-3435)taT>taG	p.Y1145*	TNC_ENST00000341037.4_Nonsense_Mutation_p.Y1145*|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Nonsense_Mutation_p.Y1145*|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1145	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.Y1145*(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCACCCCATAGATGGAGA	0.537																																							uc004bjj.3		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(3433-3435)TAT>TAG		tenascin C precursor							159.0	163.0	162.0					9																	117826978		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826978A>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3435T>G	9.37:g.117826978A>C	ENSP00000265131:p.Tyr1145*					TNC_uc010mvf.2_Nonsense_Mutation_p.Y1145*	p.Y1145*	NM_002160	NP_002151	P24821	TENA_HUMAN			11	3797	-			1145			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.3435T>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.312946|5.312946	0.95655|0.95655	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000350763;ENST00000341037;ENST00000423613	.|.	.|.	.|.	5.4|5.4	0.144|0.144	0.14824|0.14824	.|.	.|0.258707	.|0.31989	.|N	.|0.006748	T|.	0.25344|.	0.0616|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25152|.	-1.0140|.	4|.	.|0.02654	.|T	.|1	.|.	7.2616|7.2616	0.26207|0.26207	0.7309:0.1024:0.1667:0.0|0.7309:0.1024:0.1667:0.0	.|.	.|.	.|.	.|.	G|X	72|1145	.|.	.|ENSP00000339553:Y1145X	W|Y	-|-	1|3	0|2	TNC|TNC	116866799|116866799	0.005000|0.005000	0.15991|0.15991	0.992000|0.992000	0.48379|0.48379	0.951000|0.951000	0.60555|0.60555	-1.231000|-1.231000	0.02939|0.02939	-0.223000|-0.223000	0.09943|0.09943	0.455000|0.455000	0.32223|0.32223	TGG|TAT		0.537	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		65	570	0	0	0	0.00361	0	65	570				
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	C	G	rs144762491		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:124751501C>G	ENST00000373776.3	-	4	1699	c.1512G>C	c.(1510-1512)acG>acC	p.T504T	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Silent_p.T504T	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.T504T(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCGGCCTCCCCGTGGGGATGT	0.577																																							uc004blt.1		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(1510-1512)ACG>ACC		tubulin tyrosine ligase-like family, member 11							101.0	99.0	100.0					9																	124751501		2203	4300	6503	SO:0001819	synonymous_variant	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751501C>G	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1512G>C	9.37:g.124751501C>G						TTLL11_uc011lyl.1_Silent_p.T504T|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Silent_p.T181T|TTLL11_uc004blu.1_3'UTR	p.T504T	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			4	1700	-			504			TTL.			Silent	SNP	ENST00000373776.3	37	c.1512G>C	CCDS6834.2																																																																																				0.577	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		8	188	0	0	0	0.001855	0	8	188				
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:125281931A>T	ENST00000340750.1	+	1	512	c.512A>T	c.(511-513)gAc>gTc	p.D171V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D171V(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTTGTGCTGACAACACCATC	0.512																																							uc011lyw.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(511-513)GAC>GTC		olfactory receptor, family 1, subfamily J,							168.0	139.0	149.0					9																	125281931		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281931A>T	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.512A>T	9.37:g.125281931A>T	ENSP00000343521:p.Asp171Val						p.D171V	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	512	+			171			Extracellular (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.512A>T	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	A	5.989	0.366362	0.11352	.	.	ENSG00000239590	ENST00000340750	T	0.36340	1.26	5.54	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.213746	0.22632	U	0.057566	T	0.38931	0.1059	M	0.80183	2.485	0.09310	N	0.999993	B	0.27951	0.195	B	0.34452	0.183	T	0.38067	-0.9678	10	0.51188	T	0.08	.	5.6171	0.17438	0.5844:0.2693:0.1462:0.0	.	171	Q8NGS1	OR1J4_HUMAN	V	171	ENSP00000343521:D171V	ENSP00000343521:D171V	D	+	2	0	OR1J4	124321752	0.000000	0.05858	0.498000	0.27564	0.007000	0.05969	0.575000	0.23729	0.538000	0.28769	-0.320000	0.08662	GAC		0.512	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			15	165	0	0	0	0.00245	0	15	165				
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:125315646C>G	ENST00000373688.2	+	1	256	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I66M(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGGCCATCAGCTCTGACC	0.527																																							uc011lyx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(196-198)ATC>ATG		olfactory receptor, family 1, subfamily N,							250.0	224.0	233.0					9																	125315646		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315646C>G		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.198C>G	9.37:g.125315646C>G	ENSP00000362792:p.Ile66Met						p.I66M	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	198	+			66			Helical; Name=1; (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.198C>G	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197689	0.22037	.	.	ENSG00000171501	ENST00000373688	T	0.08458	3.09	4.37	-0.0238	0.13941	GPCR, rhodopsin-like superfamily (1);	0.135583	0.32802	N	0.005623	T	0.32224	0.0822	H	0.95224	3.64	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.08452	-1.0721	10	0.87932	D	0	.	6.1302	0.20201	0.1364:0.5958:0.0:0.2678	.	66	Q8NGR9	OR1N2_HUMAN	M	66	ENSP00000362792:I66M	ENSP00000362792:I66M	I	+	3	3	OR1N2	124355467	0.000000	0.05858	0.975000	0.42487	0.309000	0.27889	-1.049000	0.03514	0.087000	0.17167	-0.205000	0.12727	ATC		0.527	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			102	706	0	0	0	0.00361	0	102	706				
DENND1A	57706	broad.mit.edu	37	9	126641241	126641241	+	Missense_Mutation	SNP	C	C	A	rs544410606		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:126641241C>A	ENST00000373624.2	-	2	278	c.77G>T	c.(76-78)gGc>gTc	p.G26V	DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.A11S|DENND1A_ENST00000373620.3_Missense_Mutation_p.G26V|DENND1A_ENST00000373618.1_Missense_Mutation_p.A11S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	26	UDENN.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G26V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAAGAGTGCCACCTGTCCT	0.373																																							uc004bnz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(76-78)GGC>GTC		DENN/MADD domain containing 1A isoform 1							175.0	146.0	156.0					9																	126641241		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126641241C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.77G>T	9.37:g.126641241C>A	ENSP00000362727:p.Gly26Val					DENND1A_uc011lzm.1_Intron|DENND1A_uc004boa.1_Missense_Mutation_p.G26V|DENND1A_uc004bob.1_Missense_Mutation_p.A11S|DENND1A_uc004boc.2_Missense_Mutation_p.A11S	p.G26V	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			2	310	-			26			UDENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.77G>T	CCDS35133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.83|14.83	2.652782|2.652782	0.47362|0.47362	.|.	.|.	ENSG00000119522|ENSG00000119522	ENST00000394215;ENST00000373618|ENST00000373624;ENST00000373620	T;T|T;T	0.07114|0.06608	3.29;3.22|3.33;3.28	5.63|5.63	4.71|4.71	0.59529|0.59529	.|uDENN (3);	.|0.225765	.|0.48286	.|D	.|0.000187	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.08118|0.08118	0|0	0.22787|0.22787	N|N	0.99874|0.99874	P;B|B;B	0.50819|0.29805	0.939;0.119|0.257;0.227	B;B|B;B	0.41412|0.29077	0.356;0.026|0.098;0.065	T|T	0.39272|0.39272	-0.9622|-0.9622	9|10	0.05351|0.40728	T|T	0.99|0.16	-21.2924|-21.2924	13.7917|13.7917	0.63146|0.63146	0.0:0.8468:0.1532:0.0|0.0:0.8468:0.1532:0.0	.|.	11;11|26;26	Q8TEH3-4;Q8TEH3-5|Q8TEH3-2;Q8TEH3	.;.|.;DEN1A_HUMAN	S|V	11|26	ENSP00000377763:A11S;ENSP00000362720:A11S|ENSP00000362727:G26V;ENSP00000362722:G26V	ENSP00000362720:A11S|ENSP00000362722:G26V	A|G	-|-	1|2	0|0	DENND1A|DENND1A	125681062|125681062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.442000|1.442000	0.35046|0.35046	1.334000|1.334000	0.45468|0.45468	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.373	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		56	521	1	0	1.88225e-35	0.00361	3.0523e-35	56	521				
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130073925C>G	ENST00000373387.4	+	3	582	c.230C>G	c.(229-231)gCc>gGc	p.A77G	GARNL3_ENST00000314904.5_Missense_Mutation_p.A77G|GARNL3_ENST00000435213.2_Missense_Mutation_p.A55G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.A59G(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATGCAACTGCCCTGCCTGGT	0.413																																							uc011mae.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(229-231)GCC>GGC		GTPase activating Rap/RanGAP domain-like 3							134.0	122.0	126.0					9																	130073925		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130073925C>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.230C>G	9.37:g.130073925C>G	ENSP00000362485:p.Ala77Gly					GARNL3_uc011mad.1_Missense_Mutation_p.A55G	p.A77G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			3	631	+			77					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.230C>G	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832248	0.32421	.	.	ENSG00000136895	ENST00000439286;ENST00000444677;ENST00000446764;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.76	3.79	0.43588	.	0.251432	0.40144	N	0.001177	T	0.13756	0.0333	N	0.19112	0.55	0.25564	N	0.986964	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12192	-1.0557	9	.	.	.	.	7.8541	0.29472	0.1923:0.6444:0.1633:0.0	.	77;55	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	G	100;100;100;100;55;55;77;77	ENSP00000400579:A100G;ENSP00000411160:A100G;ENSP00000411329:A55G;ENSP00000396205:A55G;ENSP00000313970:A77G;ENSP00000362485:A77G	.	A	+	2	0	GARNL3	129113746	0.669000	0.27502	0.988000	0.46212	0.975000	0.68041	1.244000	0.32778	2.713000	0.92767	0.655000	0.94253	GCC		0.413	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		32	351	0	0	0	0.006999	0	32	351				
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130101923G>A	ENST00000373387.4	+	13	1380		c.e13-1		GARNL3_ENST00000314904.5_Splice_Site|GARNL3_ENST00000435213.2_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTCTACTTAGGCTGAAAATA	0.438																																							uc011mae.1		NA																	2	Unknown(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e13-1		GTPase activating Rap/RanGAP domain-like 3							104.0	104.0	104.0					9																	130101923		2203	4300	6503	SO:0001630	splice_region_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130101923G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1029-1G>A	9.37:g.130101923G>A						GARNL3_uc011mad.1_Splice_Site_p.R321_splice|GARNL3_uc004bqt.1_Splice_Site_p.R124_splice	p.R343_splice	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			13	1430	+								B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Splice_Site	SNP	ENST00000373387.4	37	c.1029_splice	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079195	0.76528	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0254	0.89268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GARNL3	129141744	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.444000	0.97578	2.596000	0.87737	0.650000	0.86243	.		0.438	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	Intron	12	144	0	0	0	0.001855	0	12	144				
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130420719C>G	ENST00000373299.1	+	4	350	c.235C>G	c.(235-237)Cca>Gca	p.P79A	STXBP1_ENST00000373302.3_Missense_Mutation_p.P79A	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	79					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.P79A(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCATCACTCCATCCGAGAA	0.483																																							uc004brl.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(235-237)CCA>GCA		syntaxin binding protein 1 isoform b							152.0	151.0	151.0					9																	130420719		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130420719C>G	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.235C>G	9.37:g.130420719C>G	ENSP00000362396:p.Pro79Ala					STXBP1_uc004brk.2_Missense_Mutation_p.P79A	p.P79A	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			4	432	+			79					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.235C>G	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092992	0.94149	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	D;D	0.88741	-2.42;-2.42	5.65	5.65	0.86999	.	0.098657	0.64402	D	0.000001	D	0.95159	0.8431	M	0.93016	3.37	0.80722	D	1	D;D	0.56746	0.977;0.971	P;P	0.59288	0.855;0.849	D	0.95955	0.8957	10	0.87932	D	0	-11.3651	17.2181	0.86950	0.0:1.0:0.0:0.0	.	79;79	P61764;P61764-2	STXB1_HUMAN;.	A	33;79;79	ENSP00000362399:P79A;ENSP00000362396:P79A	ENSP00000362396:P79A	P	+	1	0	STXBP1	129460540	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	7.754000	0.85163	2.665000	0.90641	0.650000	0.86243	CCA		0.483	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		45	331	0	0	0	0.00361	0	45	331				
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:133914297G>T	ENST00000361069.4	+	5	1156	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	341	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.E341D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGATCGGGAGCTCTTCCGCA	0.617																																							uc004caa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1021-1023)GAG>GAT		laminin, gamma 3 precursor							69.0	71.0	70.0					9																	133914297		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133914297G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1023G>T	9.37:g.133914297G>T	ENSP00000354360:p.Glu341Asp						p.E341D	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	5	1121	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	341			Laminin EGF-like 2.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1023G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877905	0.72294	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.30981	1.51	4.85	1.97	0.26223	EGF-like, laminin (3);	0.050995	0.85682	N	0.000000	T	0.39759	0.1090	L	0.55990	1.75	0.37397	D	0.912687	P	0.44195	0.828	P	0.58391	0.838	T	0.28808	-1.0032	10	0.37606	T	0.19	.	5.7543	0.18164	0.2312:0.1391:0.6298:0.0	.	341	Q9Y6N6	LAMC3_HUMAN	D	341	ENSP00000354360:E341D	ENSP00000325873:E341D	E	+	3	2	LAMC3	132904118	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.901000	0.39838	0.184000	0.20083	-0.133000	0.14855	GAG		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		8	96	1	0	0.000978159	0.000978	0.00104699	8	96				
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137646119G>T	ENST00000371817.3	+	16	2188	c.1774G>T	c.(1774-1776)Ggt>Tgt	p.G592C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	592	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G592C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCTGGCAGGGTCCTCGAGG	0.627																																							uc004cfe.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1774-1776)GGT>TGT		alpha 1 type V collagen preproprotein							55.0	65.0	62.0					9																	137646119		2203	4300	6503	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137646119G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1774-1G>T	9.37:g.137646119G>T							p.G592C	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	16	2156	+		Myeloproliferative disorder(178;0.0341)	592			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1774G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748839	0.69533	.	.	ENSG00000130635	ENST00000371817	D	0.99637	-6.29	4.99	4.99	0.66335	.	0.000000	0.85682	U	0.000000	D	0.99739	0.9897	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97180	0.9850	9	.	.	.	.	17.028	0.86453	0.0:0.0:1.0:0.0	.	592	P20908	CO5A1_HUMAN	C	592	ENSP00000360882:G592C	.	G	+	1	0	COL5A1	136785940	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	8.205000	0.89743	2.295000	0.77249	0.563000	0.77884	GGT		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Missense_Mutation	5	8	1	0	0.000602214	0.000602	0.000648446	5	8				
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	G	T	rs368917234		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137658860G>T	ENST00000371817.3	+	23	2562	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	716	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.E716D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGGAGAGCCTGGCCCCC	0.652																																							uc004cfe.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2146-2148)GAG>GAT		alpha 1 type V collagen preproprotein							41.0	42.0	41.0					9																	137658860		2202	4300	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137658860G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2148G>T	9.37:g.137658860G>T	ENSP00000360882:p.Glu716Asp						p.E716D	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	23	2530	+		Myeloproliferative disorder(178;0.0341)	716			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2148G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730158	0.48939	.	.	ENSG00000130635	ENST00000371817	D	0.94232	-3.38	5.18	0.737	0.18314	.	0.000000	0.85682	U	0.000000	D	0.91737	0.7387	L	0.31664	0.95	0.40760	D	0.982998	P	0.52842	0.956	P	0.62184	0.899	D	0.88234	0.2905	10	0.51188	T	0.08	.	7.3299	0.26575	0.7306:0.0:0.2694:0.0	.	716	P20908	CO5A1_HUMAN	D	716	ENSP00000360882:E716D	ENSP00000360882:E716D	E	+	3	2	COL5A1	136798681	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	0.450000	0.21762	-0.097000	0.12307	-0.140000	0.14226	GAG		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		3	4	1	0	0.004672	0.004672	0.00487985	3	4				
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:139301896G>A	ENST00000357365.3	-	5	649	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000371725.3_Silent_p.L101L|SDCCAG3_ENST00000298537.7_Silent_p.L151L	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm (GO:0005737)		p.L174L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCATCCAGGAGGTCACCA	0.647																																							uc004chi.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(520-522)CTG>TTG		serologically defined colon cancer antigen 3							22.0	28.0	26.0					9																	139301896		1998	4170	6168	SO:0001819	synonymous_variant	10807					cytoplasm		g.chr9:139301896G>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.520C>T	9.37:g.139301896G>A						SDCCAG3_uc004chj.2_Silent_p.L151L|SDCCAG3_uc004chk.2_Silent_p.L101L	p.L174L	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	5	725	-		Myeloproliferative disorder(178;0.0511)	174					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Silent	SNP	ENST00000357365.3	37	c.520C>T	CCDS43904.1																																																																																				0.647	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		4	3	0	0	0	0.000602	0	4	3				
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	C	rs148764513		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:3002623G>C	ENST00000381127.1	+	6	967	c.746G>C	c.(745-747)cGg>cCg	p.R249P	ARSF_ENST00000359361.2_Missense_Mutation_p.R249P|ARSF_ENST00000537104.1_Missense_Mutation_p.R249P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCATGCGGGGGCACGAG	0.493																																							uc004cre.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(745-747)CGG>CCG		arylsulfatase F precursor							81.0	70.0	74.0					X																	3002623		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002623G>C	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.746G>C	X.37:g.3002623G>C	ENSP00000370519:p.Arg249Pro					ARSF_uc004crf.1_Missense_Mutation_p.R249P	p.R249P	NM_004042	NP_004033	P54793	ARSF_HUMAN			6	967	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	249					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.746G>C	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822250	0.32237	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94000	-3.33;-3.33;-3.33	3.28	3.28	0.37604	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.96436	0.8837	M	0.83603	2.65	0.40626	D	0.981814	D	0.89917	1.0	D	0.85130	0.997	D	0.96995	0.9725	10	0.62326	D	0.03	.	13.959	0.64166	0.0:0.0:1.0:0.0	.	249	P54793	ARSF_HUMAN	P	249	ENSP00000370519:R249P;ENSP00000445594:R249P;ENSP00000352319:R249P	ENSP00000352319:R249P	R	+	2	0	ARSF	3012623	0.998000	0.40836	0.009000	0.14445	0.013000	0.08279	4.670000	0.61583	1.238000	0.43771	0.534000	0.68092	CGG		0.493	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			28	36	0	0	0	0.003271	0	28	36				
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:3241316A>C	ENST00000217939.6	-	5	2564	c.2410T>G	c.(2410-2412)Ttg>Gtg	p.L804V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	804						extracellular vesicular exosome (GO:0070062)		p.L804V(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTTAATCAATGGGGGTACT	0.473																																							uc004crg.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2410-2412)TTG>GTG		adlican precursor							142.0	141.0	141.0					X																	3241316		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241316A>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2410T>G	X.37:g.3241316A>C	ENSP00000217939:p.Leu804Val						p.L804V	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	2567	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	804					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2410T>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	0.009	-1.845740	0.00568	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.59906	0.23	3.63	0.701	0.18104	.	2.044610	0.03286	N	0.186964	T	0.30479	0.0766	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	10	0.02654	T	1	.	2.674	0.05076	0.2877:0.3458:0.2736:0.0929	.	804	Q9NR99	MXRA5_HUMAN	V	804	ENSP00000217939:L804V	ENSP00000217939:L804V	L	-	1	2	MXRA5	3251316	0.004000	0.15560	0.000000	0.03702	0.009000	0.06853	0.393000	0.20817	-0.320000	0.08640	-0.287000	0.09952	TTG		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	242	0	0	0	0.001368	0	10	242				
HDHD1	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:6995465C>A	ENST00000381077.5	-	3	382	c.306G>T	c.(304-306)ctG>ctT	p.L102L	HDHD1_ENST00000424830.2_Silent_p.L125L|HDHD1_ENST00000540122.1_Silent_p.L102L|HDHD1_ENST00000412827.2_Silent_p.L59L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	102					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)	p.L88L(2)		breast(2)|large_intestine(1)|lung(3)	6						CATGTTTCCGCAGGTGGATGA	0.592																																							uc004crv.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(304-306)CTG>CTT		haloacid dehalogenase-like hydrolase domain							44.0	46.0	45.0					X																	6995465		2089	4187	6276	SO:0001819	synonymous_variant	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6995465C>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.306G>T	X.37:g.6995465C>A						HDHD1A_uc011mhm.1_Silent_p.L125L|HDHD1A_uc011mhn.1_Silent_p.L59L|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Silent_p.L102L	p.L102L	NM_012080	NP_036212	Q08623	HDHD1_HUMAN			3	383	-		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)	102					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	c.306G>T	CCDS48075.1																																																																																				0.592	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		10	44	1	0	2.31682e-05	0.003163	2.57425e-05	10	44				
CLCN4	1183	broad.mit.edu	37	X	10176257	10176257	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:10176257G>C	ENST00000380833.4	+	9	1407	c.1016G>C	c.(1015-1017)gGg>gCg	p.G339A	CLCN4_ENST00000380829.1_Intron|CLCN4_ENST00000421085.2_Missense_Mutation_p.G245A	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	339					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCTGCTTGGGGTCTTCGGG	0.572																																					Melanoma(74;1050 1296 1576 30544 38374)	Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1015-1017)GGG>GCG		chloride channel 4							124.0	120.0	121.0					X																	10176257		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176257G>C	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1016G>C	X.37:g.10176257G>C	ENSP00000370213:p.Gly339Ala					CLCN4_uc011mid.1_Missense_Mutation_p.G245A	p.G339A	NM_001830	NP_001821	P51793	CLCN4_HUMAN			9	1446	+			339			Helical; (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1016G>C	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	20.0	3.931340	0.73442	.	.	ENSG00000073464	ENST00000380833;ENST00000421085	D;D	0.98150	-4.75;-4.75	5.71	5.71	0.89125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99744	1.1016	10	0.87932	D	0	-46.423	18.9991	0.92826	0.0:0.0:1.0:0.0	.	339	P51793	CLCN4_HUMAN	A	339;245	ENSP00000370213:G339A;ENSP00000405754:G245A	ENSP00000370213:G339A	G	+	2	0	CLCN4	10136257	1.000000	0.71417	0.996000	0.52242	0.341000	0.28922	9.664000	0.98607	2.436000	0.82500	0.592000	0.82586	GGG		0.572	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			9	245	0	0	0	0.003163	0	9	245				
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:11187673G>T	ENST00000337414.4	-	9	2633	c.1761C>A	c.(1759-1761)atC>atA	p.I587I	ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000303025.6_Silent_p.I384I|ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000413512.3_Silent_p.I396I	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493																																							uc004cup.1		NA																	2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)|lung(1)	2						c.(1759-1761)ATC>ATA		Rho GTPase activating protein 6 isoform 1							167.0	129.0	142.0					X																	11187673		2203	4300	6503	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11187673G>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1761C>A	X.37:g.11187673G>T						ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.I587I|ARHGAP6_uc004cum.1_Silent_p.I384I|ARHGAP6_uc004cun.1_Silent_p.I407I|ARHGAP6_uc010neb.1_Silent_p.I409I|ARHGAP6_uc011mif.1_Silent_p.I384I	p.I587I	NM_013427	NP_038286	O43182	RHG06_HUMAN			9	2634	-			587			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.1761C>A	CCDS14140.1																																																																																				0.493	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		128	194	1	0	3.58306e-76	0.00361	6.72993e-76	128	194				
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:18209221G>T	ENST00000380033.4	-	8	1320	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	BEND2_ENST00000380030.3_Silent_p.G305G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396								p.G396G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCATTTGTGGGCCAGATTCTG	0.378																																							uc004cyj.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1186-1188)GGC>GGA		BEN domain containing 2							175.0	147.0	157.0					X																	18209221		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18209221G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1188C>A	X.37:g.18209221G>T						BEND2_uc010nfb.2_Silent_p.G305G	p.G396G	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			8	1342	-			396					E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.1188C>A	CCDS14184.1																																																																																				0.378	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		82	131	1	0	3.47606e-37	0.00361	5.73151e-37	82	131				
SUPT20HL2	170067	broad.mit.edu	37	X	24330389	24330389	+	IGR	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:24330389C>A								AC096509.1 (25595 upstream) : AC004552.1 (36536 downstream)														p.W458C(2)									GCTTGGTGTCCCAGGCCTGAC	0.542																																							uc011mjw.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1042-1044)TGG>TGT		family with sequence similarity 48, member B2							123.0	104.0	109.0					X																	24330389		1568	3582	5150	SO:0001628	intergenic_variant	170067							g.chrX:24330389C>A																													X.37:g.24330389C>A							p.W348C	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	1044	-			348						Missense_Mutation	SNP		37	c.1044G>T																																																																																				0	0.542									50	72	1	0	8.18108e-13	0.00361	1.05436e-12	50	72				
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:24597530T>A	ENST00000379144.2	-	6	741	c.611A>T	c.(610-612)gAc>gTc	p.D204V	PCYT1B_ENST00000356768.4_Missense_Mutation_p.D204V|PCYT1B_ENST00000379145.1_Missense_Mutation_p.D186V	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	204					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)	p.D204V(4)|p.D186V(2)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGTAATGATGTCCGATGTTGA	0.428																																							uc004dbi.2		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(610-612)GAC>GTC		choline phosphate cytidylyltransferase 1 beta	Choline(DB00122)						285.0	200.0	229.0					X																	24597530		2203	4300	6503	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24597530T>A	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.611A>T	X.37:g.24597530T>A	ENSP00000368439:p.Asp204Val					PCYT1B_uc004dbk.3_Missense_Mutation_p.D204V|PCYT1B_uc004dbj.2_Missense_Mutation_p.D186V	p.D204V	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN			6	844	-			204			Catalytic (Potential).		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	c.611A>T	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034996	0.75617	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96774	-4.12;-4.12;-4.12	5.1	5.1	0.69264	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.044298	0.85682	D	0.000000	D	0.98532	0.9510	H	0.95187	3.635	0.80722	D	1	D;D;D	0.57257	0.979;0.975;0.975	P;D;D	0.65684	0.872;0.937;0.937	D	0.99605	1.0979	10	0.87932	D	0	-2.2294	14.0946	0.65013	0.0:0.0:0.0:1.0	.	204;186;204	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	V	186;204;204	ENSP00000368440:D186V;ENSP00000368439:D204V;ENSP00000349211:D204V	ENSP00000349211:D204V	D	-	2	0	PCYT1B	24507451	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	7.519000	0.81809	1.903000	0.55091	0.430000	0.28490	GAC		0.428	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		241	389	0	0	0	0.00361	0	241	389				
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	G	T	rs201140749		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:27999351G>T	ENST00000441525.1	-	1	215	c.101C>A	c.(100-102)gCg>gAg	p.A34E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34								p.A34E(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGAGGAGGCCGCCGTCACCGC	0.562																																							uc004dbx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(100-102)GCG>GAG		DDB1 and CUL4 associated factor 8-like 1							54.0	43.0	47.0					X																	27999351		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27999351G>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.101C>A	X.37:g.27999351G>T	ENSP00000405222:p.Ala34Glu						p.A34E	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	216	-			34					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.101C>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.730573	0.00089	.	.	ENSG00000226372	ENST00000441525	T	0.57436	0.4	0.842	-1.68	0.08212	.	0.388279	0.25277	N	0.031822	T	0.13798	0.0334	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25222	-1.0138	10	0.02654	T	1	-2.6577	5.9074	0.19008	0.0:0.0:0.4124:0.5876	.	34	A6NGE4	DC8L1_HUMAN	E	34	ENSP00000405222:A34E	ENSP00000405222:A34E	A	-	2	0	DCAF8L1	27909272	0.503000	0.26115	0.000000	0.03702	0.005000	0.04900	0.476000	0.22180	-1.298000	0.02348	-0.921000	0.02739	GCG		0.562	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		11	17	1	0	6.72482e-11	0.003163	8.32891e-11	11	17				
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C	rs186119759		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		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						GCTGGAGGACGCAGGCTCTTG	0.582																																							uc004ddl.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(484-486)GCA>CCA		hypothetical protein LOC442444							51.0	46.0	48.0					X																	37026967		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026967G>C	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.484G>C	X.37:g.37026967G>C	ENSP00000367913:p.Ala162Pro						p.A162P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	498	+			162					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.484G>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268771	0.23136	.	.	ENSG00000198173	ENST00000358047	T	0.20881	2.04	0.502	-0.501	0.12008	.	.	.	.	.	T	0.32346	0.0826	L	0.56769	1.78	0.09310	N	1	D	0.65815	0.995	D	0.64877	0.93	T	0.16453	-1.0402	8	0.33141	T	0.24	.	.	.	.	.	162	Q5HY64	FA47C_HUMAN	P	162	ENSP00000367913:A162P	ENSP00000367913:A162P	A	+	1	0	FAM47C	36936888	0.000000	0.05858	0.005000	0.12908	0.021000	0.10359	-1.357000	0.02607	-0.361000	0.08125	0.292000	0.19580	GCA		0.582	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		22	16	0	0	0	0.00278	0	22	16				
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:37027514C>T	ENST00000358047.3	+	1	1083	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	344								p.P344L(4)		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						AGTCTCCACCCAGAGCCTCCC	0.622																																							uc004ddl.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(1030-1032)CCA>CTA		hypothetical protein LOC442444							77.0	73.0	74.0					X																	37027514		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027514C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1031C>T	X.37:g.37027514C>T	ENSP00000367913:p.Pro344Leu						p.P344L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1045	+			344					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1031C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	9.070	0.996649	0.19043	.	.	ENSG00000198173	ENST00000358047	T	0.12147	2.71	0.95	-1.58	0.08479	.	.	.	.	.	T	0.13713	0.0332	M	0.63843	1.955	0.27698	N	0.945893	P	0.43701	0.815	P	0.46510	0.519	T	0.24512	-1.0158	9	0.15066	T	0.55	.	2.1673	0.03840	0.0:0.3412:0.3425:0.3163	.	344	Q5HY64	FA47C_HUMAN	L	344	ENSP00000367913:P344L	ENSP00000367913:P344L	P	+	2	0	FAM47C	36937435	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.334000	0.19787	0.177000	0.19895	0.179000	0.17066	CCA		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		25	33	0	0	0	0.002445	0	25	33				
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Intron	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:38146246C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Missense_Mutation_p.W669L|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.W669L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cTCATCTTGCCAGTGTTCTGC	0.532																																							uc004ded.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2005-2007)TGG>TTG		retinitis pigmentosa GTPase regulator isoform C							303.0	242.0	262.0					X																	38146246		2202	4300	6502	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146246C>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+100G>T	X.37:g.38146246C>A						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.W669L	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	2174	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.2006G>T		.	.	.	.	.	.	.	.	.	.	c	6.363	0.435081	0.12045	.	.	ENSG00000156313	ENST00000378505	T	0.30448	1.53	3.0	2.1	0.27182	.	1.481040	0.05171	U	0.499613	T	0.19005	0.0456	N	0.22421	0.69	0.09310	N	0.999998	B	0.10296	0.003	B	0.09377	0.004	T	0.26538	-1.0100	10	0.10902	T	0.67	.	5.2724	0.15632	0.2035:0.6745:0.0:0.122	.	669	E9PE28	.	L	669	ENSP00000367766:W669L	ENSP00000367766:W669L	W	-	2	0	RPGR	38031190	0.000000	0.05858	0.005000	0.12908	0.105000	0.19272	0.159000	0.16442	0.272000	0.22027	0.353000	0.21931	TGG		0.532	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		9	24	1	0	0.00829132	0.008291	0.0086268	9	24				
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:38664295G>A	ENST00000336949.6	+	2	1041	c.96G>A	c.(94-96)gtG>gtA	p.V32V	MID1IP1_ENST00000457894.1_Silent_p.V32V|MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000378474.3_Silent_p.V32V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	32					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.V32V(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACCAGACGGTGATGGTGCCCA	0.602																																							uc004dei.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(94-96)GTG>GTA		MID1 interacting G12-like protein							101.0	67.0	79.0					X																	38664295		2202	4300	6502	SO:0001819	synonymous_variant	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664295G>A		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.96G>A	X.37:g.38664295G>A						MID1IP1_uc010ngz.2_Silent_p.V32V|MID1IP1_uc004dej.3_Silent_p.V32V	p.V32V	NM_001098790	NP_001092260	Q9NPA3	M1IP1_HUMAN			3	520	+			32					D3DWB2	Silent	SNP	ENST00000336949.6	37	c.96G>A	CCDS14249.1																																																																																				0.602	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			21	27	0	0	0	0.00333	0	21	27				
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:41043661C>T	ENST00000324545.8	+	23	3924	c.3291C>T	c.(3289-3291)gcC>gcT	p.A1097A	USP9X_ENST00000378308.2_Silent_p.A1097A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1097					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A1090A(2)|p.A1097A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTATGCCTTGTTAATGC	0.398																																					Ovarian(172;1807 2695 35459 49286)	Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(3)|breast(2)|ovary(1)	6						c.(3289-3291)GCC>GCT		ubiquitin specific protease 9, X-linked isoform							127.0	109.0	115.0					X																	41043661		2039	4214	6253	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41043661C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3291C>T	X.37:g.41043661C>T						USP9X_uc004dfc.2_Silent_p.A1097A	p.A1097A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			23	3924	+			1097					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.3291C>T	CCDS43930.1																																																																																				0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		26	55	0	0	0	0.008361	0	26	55				
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:64139003A>T	ENST00000374839.3	-	4	586	c.480T>A	c.(478-480)gcT>gcA	p.A160A	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.A137A|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000545618.1_Silent_p.A155A	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.A160A(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTGGGCGGCAGCGGCTGCAG	0.582																																							uc004dvu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(478-480)GCT>GCA		zinc finger, C4H2 domain containing							46.0	43.0	44.0					X																	64139003		2202	4300	6502	SO:0001819	synonymous_variant	55906						metal ion binding|protein binding	g.chrX:64139003A>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.480T>A	X.37:g.64139003A>T						ZC4H2_uc004dvv.2_Silent_p.A137A|ZC4H2_uc011mov.1_Silent_p.A137A|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	p.A160A	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			4	568	-			160					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	ENST00000374839.3	37	c.480T>A	CCDS14380.1																																																																																				0.582	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		19	29	0	0	0	0.002836	0	19	29				
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:65417580G>T	ENST00000343002.2	+	9	2221	c.1557G>T	c.(1555-1557)tgG>tgT	p.W519C	HEPH_ENST00000374727.3_Missense_Mutation_p.W522C|HEPH_ENST00000519389.1_Missense_Mutation_p.W573C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Missense_Mutation_p.W252C|HEPH_ENST00000441993.2_Missense_Mutation_p.W522C			Q9BQS7	HEPH_HUMAN	hephaestin	519	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.W519C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATACCGCTGGACAGTCCCCC	0.488																																							uc011moz.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(4)	9						c.(1564-1566)TGG>TGT		hephaestin isoform a							71.0	61.0	64.0					X																	65417580		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65417580G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1557G>T	X.37:g.65417580G>T	ENSP00000343939:p.Trp519Cys					HEPH_uc004dwn.2_Missense_Mutation_p.W522C|HEPH_uc004dwo.2_Missense_Mutation_p.W252C|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.W522C	p.W522C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			10	1626	+			519			Extracellular (Potential).|Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1566G>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.933561	0.73442	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002	D;D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46;-5.46	5.1	5.1	0.69264	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98400	1.0567	10	0.87932	D	0	.	16.0878	0.81070	0.0:0.0:1.0:0.0	.	573;519	E9PHN8;Q9BQS7	.;HEPH_HUMAN	C	573;522;252;522;519	ENSP00000430620:W573C;ENSP00000363859:W522C;ENSP00000337418:W252C;ENSP00000411687:W522C;ENSP00000343939:W519C	ENSP00000337418:W252C	W	+	3	0	HEPH	65334305	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	8.248000	0.89832	2.370000	0.80446	0.544000	0.68410	TGG		0.488	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		59	83	1	0	2.49387e-53	0.00361	4.40814e-53	59	83				
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:65824892G>A	ENST00000374719.3	-	3	320	c.264C>T	c.(262-264)ccC>ccT	p.P88P	EDA2R_ENST00000253392.5_Silent_p.P88P|EDA2R_ENST00000396050.1_Silent_p.P88P|EDA2R_ENST00000450752.1_Silent_p.P88P|EDA2R_ENST00000456230.2_Silent_p.P88P|EDA2R_ENST00000451436.2_Intron	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	88					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.P88P(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCTCACCTGGGCAAACAGT	0.478																																							uc004dwq.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(262-264)CCC>CCT		X-linked ectodysplasin receptor							79.0	52.0	61.0					X																	65824892		2203	4300	6503	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65824892G>A	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.264C>T	X.37:g.65824892G>A						EDA2R_uc004dwr.2_Silent_p.P88P|EDA2R_uc004dws.2_Silent_p.P88P|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.P88P|EDA2R_uc004dwt.1_Silent_p.P88P	p.P88P	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN			2	275	-			88			TNFR-Cys 3.|Extracellular (Potential).		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	c.264C>T	CCDS14386.1																																																																																				0.478	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		19	28	0	0	0	0.008871	0	19	28				
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	G	T	rs116840816		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:70443680G>T	ENST00000374022.3	+	2	218	c.123G>T	c.(121-123)gaG>gaT	p.E41D	GJB1_ENST00000374029.1_Missense_Mutation_p.E41D|GJB1_ENST00000361726.6_Missense_Mutation_p.E41D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41			E -> K (in CMTX1). {ECO:0000269|PubMed:9361298}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.E41D(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTGCAGAGAGTGTGTGGG	0.532																																							uc004dzf.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1	GRCh37	CM066092	GJB1	M	rs116840816	c.(121-123)GAG>GAT		gap junction protein, beta 1, 32kDa							129.0	87.0	101.0					X																	70443680		2203	4300	6503	SO:0001583	missense	2705				cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	g.chrX:70443680G>T	X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.123G>T	X.37:g.70443680G>T	ENSP00000363134:p.Glu41Asp					BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Missense_Mutation_p.E41D	p.E41D	NM_001097642	NP_001091111	P08034	CXB1_HUMAN			2	218	+	Renal(35;0.156)		41		E -> K (in CMTX1).	Helical; (Probable).		B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	ENST00000374022.3	37	c.123G>T	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029026	0.54790	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000447581;ENST00000361726	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	4.45	3.59	0.41128	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	L	0.61218	1.895	0.58432	D	0.999992	D	0.69078	0.997	D	0.69307	0.963	D	0.99120	1.0849	10	0.72032	D	0.01	.	8.2925	0.31965	0.1891:0.0:0.8109:0.0	.	41	P08034	CXB1_HUMAN	D	41	ENSP00000363141:E41D;ENSP00000363134:E41D;ENSP00000407223:E41D;ENSP00000354900:E41D	ENSP00000354900:E41D	E	+	3	2	GJB1	70360405	1.000000	0.71417	0.973000	0.42090	0.944000	0.59088	4.683000	0.61679	0.907000	0.36646	0.521000	0.50471	GAG		0.532	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166		34	63	1	0	1.16512e-39	0.006999	1.94788e-39	34	63				
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	G	T	rs140270842		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:71360426G>T	ENST00000373677.1	+	2	3192	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	NHSL2_ENST00000510661.1_Missense_Mutation_p.V779L|NHSL2_ENST00000535692.1_Missense_Mutation_p.V644L|NHSL2_ENST00000540800.1_Missense_Mutation_p.V1010L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	644								p.V1010L(2)|p.V641L(2)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCCAGCGTGCTGTACCT	0.532																																							uc011mqa.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(3028-3030)GTG>TTG		NHS-like 2							56.0	60.0	59.0					X																	71360426		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360426G>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1930G>T	X.37:g.71360426G>T	ENSP00000362781:p.Val644Leu					NHSL2_uc004eak.1_Missense_Mutation_p.V644L|NHSL2_uc010nli.2_Missense_Mutation_p.V779L	p.V1010L	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	3028	+	Renal(35;0.156)		1010					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.3028G>T		.	.	.	.	.	.	.	.	.	.	G	14.34	2.506670	0.44558	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.57907	1.24;0.43;0.37;0.43	6.08	4.3	0.51218	.	0.096500	0.43260	D	0.000581	T	0.47002	0.1422	L	0.59436	1.845	0.39913	D	0.974052	B;B;B	0.29612	0.05;0.251;0.251	B;B;B	0.27170	0.03;0.077;0.077	T	0.46707	-0.9172	10	0.66056	D	0.02	-2.6127	9.0687	0.36480	0.0823:0.145:0.7727:0.0	.	1010;779;644	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	1010;644;779;644	ENSP00000444617:V1010L;ENSP00000362781:V644L;ENSP00000424079:V779L;ENSP00000444914:V644L	ENSP00000362781:V644L	V	+	1	0	NHSL2	71277151	0.995000	0.38212	0.810000	0.32431	0.910000	0.53928	2.308000	0.43690	0.666000	0.31087	0.600000	0.82982	GTG		0.532	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		8	17	1	0	0.00621372	0.006214	0.00647137	8	17				
UPRT	139596	broad.mit.edu	37	X	74520800	74520800	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:74520800G>T	ENST00000373383.4	+	6	990	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C	UPRT_ENST00000530743.1_Splice_Site_p.G139C|UPRT_ENST00000373379.1_Missense_Mutation_p.G275C	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	275					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G275C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CACTCCTCATGGTGAGTTCAG	0.423																																							uc004ecb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(823-825)GGT>TGT		uracil phosphoribosyltransferase (FUR1) homolog							130.0	103.0	112.0					X																	74520800		2203	4300	6503	SO:0001630	splice_region_variant	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74520800G>T	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.823+1G>T	X.37:g.74520800G>T						UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.G275C|UPRT_uc004ece.1_Missense_Mutation_p.G139C	p.G275C	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			6	952	+			275					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.823G>T	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215168	0.79352	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.94576	-3.46;-3.46;-3.46	5.15	5.15	0.70609	.	0.098867	0.64402	D	0.000001	D	0.98131	0.9383	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.99667	1.0995	10	0.87932	D	0	-21.8336	16.7132	0.85391	0.0:0.0:1.0:0.0	.	275;275	A8KAF9;Q96BW1	.;UPP_HUMAN	C	275;275;139	ENSP00000362481:G275C;ENSP00000362477:G275C;ENSP00000434037:G139C	ENSP00000362477:G275C	G	+	1	0	UPRT	74437525	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	8.990000	0.93510	2.149000	0.67028	0.594000	0.82650	GGT		0.423	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052	Missense_Mutation	6	212	1	0	2.7689e-08	0.001984	3.25752e-08	6	212				
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:79277847C>A	ENST00000373294.5	+	1	107	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.P27T|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373291.1_5'Flank	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	27					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P27T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAAGACCCAATACAGGC	0.607																																							uc010nmg.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(79-81)CCA>ACA		T-box 22 isoform 1							48.0	45.0	46.0					X																	79277847		2203	4299	6502	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79277847C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.79C>A	X.37:g.79277847C>A	ENSP00000362390:p.Pro27Thr					TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.P27T	p.P27T	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			2	213	+			27					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.79C>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293509	0.23564	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.86432	-2.12;-2.12	4.7	0.715	0.18186	.	0.872944	0.10034	N	0.724413	T	0.77123	0.4084	L	0.40543	1.245	0.09310	N	0.999992	B	0.06786	0.001	B	0.06405	0.002	T	0.56968	-0.7891	10	0.15066	T	0.55	.	3.8423	0.08920	0.4057:0.349:0.0:0.2453	.	27	Q9Y458	TBX22_HUMAN	T	27	ENSP00000362393:P27T;ENSP00000362390:P27T	ENSP00000362390:P27T	P	+	1	0	TBX22	79164503	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-1.328000	0.02680	-0.031000	0.13781	-0.271000	0.10264	CCA		0.607	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		10	16	1	0	1.76689e-08	0.006214	2.0878e-08	10	16				
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	T	C	rs200785065		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:79936970T>C	ENST00000373275.4	-	40	4740	c.4524A>G	c.(4522-4524)ctA>ctG	p.L1508L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.L1508L(2)		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						CAAGTAGATATAGTGAAAGCC	0.378													T|||	1	0.000264901	0.0	0.0	3775	,	,		11005	0.001		0.0	False		,,,				2504	0.0						uc004edt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(4522-4524)CTA>CTG		bromodomain and WD repeat domain containing 3							85.0	77.0	80.0					X																	79936970		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79936970T>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.4524A>G	X.37:g.79936970T>C						BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.L1104L|BRWD3_uc004edp.2_Silent_p.L1337L|BRWD3_uc004edq.2_Silent_p.L1104L|BRWD3_uc010nmj.1_Silent_p.L1104L|BRWD3_uc004edr.2_Silent_p.L1178L|BRWD3_uc004eds.2_Silent_p.L1104L|BRWD3_uc004edu.2_Silent_p.L1178L|BRWD3_uc004edv.2_Silent_p.L1104L|BRWD3_uc004edw.2_Silent_p.L1104L|BRWD3_uc004edx.2_Silent_p.L1104L|BRWD3_uc004edy.2_Silent_p.L1104L|BRWD3_uc004edz.2_Silent_p.L1178L|BRWD3_uc004eea.2_Silent_p.L1178L|BRWD3_uc004eeb.2_Silent_p.L1104L	p.L1508L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			40	4787	-			1508					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.4524A>G	CCDS14447.1																																																																																				0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		72	80	0	0	0	0.00361	0	72	80				
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:85404014C>A	ENST00000373125.4	+	1	390	c.390C>A	c.(388-390)atC>atA	p.I130I	DACH2_ENST00000373131.1_Silent_p.I130I	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	130	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I130I(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGTCCGGATCCTCCGCGGGC	0.552																																							uc004eew.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|pancreas(1)	5						c.(388-390)ATC>ATA		dachshund 2 isoform a							63.0	62.0	62.0					X																	85404014		2202	4300	6502	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404014C>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.390C>A	X.37:g.85404014C>A						DACH2_uc004eex.2_Silent_p.I130I|DACH2_uc010nmq.2_5'UTR	p.I130I	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			1	560	+			130			DACHbox-N.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.390C>A	CCDS14455.1																																																																																				0.552	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		7	23	1	0	7.48243e-07	0.006214	8.5877e-07	7	23				
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:100278506C>T	ENST00000372936.3	-	8	1481	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	TRMT2B_ENST00000372935.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000338687.7_Missense_Mutation_p.G192R|TRMT2B_ENST00000372931.5_Missense_Mutation_p.G237R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G192R|TRMT2B_ENST00000478422.1_5'Flank	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	237						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)	p.G237R(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATTGTGTGCCCTTGGCTATTG	0.443																																							uc004egq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(709-711)GGG>AGG		TRM2 tRNA methyltransferase 2 homolog B							204.0	152.0	170.0					X																	100278506		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100278506C>T	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.709G>A	X.37:g.100278506C>T	ENSP00000362027:p.Gly237Arg					TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.G237R|TRMT2B_uc004egs.2_Missense_Mutation_p.G237R|TRMT2B_uc004egt.2_Missense_Mutation_p.G237R|TRMT2B_uc004egu.2_Missense_Mutation_p.G118R|TRMT2B_uc004egv.2_Missense_Mutation_p.G192R	p.G237R	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN			7	1008	-			237					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.709G>A	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545971	0.86022	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.52754	0.75;0.66;0.75;0.66;0.66;0.65	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.84683	2.71	0.80722	D	1	D;D;D	0.65815	0.995;0.969;0.969	P;P;P	0.60473	0.875;0.762;0.635	T	0.74393	-0.3680	10	0.59425	D	0.04	-12.3589	14.366	0.66805	0.0:1.0:0.0:0.0	.	192;237;237	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	R	192;237;192;237;237;237	ENSP00000340970:G192R;ENSP00000438134:G237R;ENSP00000362030:G192R;ENSP00000362026:G237R;ENSP00000362027:G237R;ENSP00000362022:G237R	ENSP00000340970:G192R	G	-	1	0	TRMT2B	100165162	0.999000	0.42202	0.962000	0.40283	0.997000	0.91878	4.425000	0.59875	2.056000	0.61249	0.468000	0.43344	GGG		0.443	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		93	139	0	0	0	0.00361	0	93	139				
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107224574G>A	ENST00000302917.1	-	3	767	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225								p.L225L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAATAGCTCCGAGGGGCTGCC	0.592																																							uc004enn.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(673-675)CTC>CTT		testis expressed 13B							107.0	109.0	109.0					X																	107224574		2200	4300	6500	SO:0001819	synonymous_variant	56156							g.chrX:107224574G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.675C>T	X.37:g.107224574G>A							p.L225L	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			3	768	-			225					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.675C>T	CCDS14534.1																																																																																				0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			20	125	0	0	0	0.007413	0	20	125				
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107225113T>A	ENST00000302917.1	-	2	337	c.245A>T	c.(244-246)cAg>cTg	p.Q82L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82								p.Q82L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAACTGCCCCTGCCTGTGGGC	0.617																																							uc004enn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(244-246)CAG>CTG		testis expressed 13B							87.0	85.0	86.0					X																	107225113		2198	4300	6498	SO:0001583	missense	56156							g.chrX:107225113T>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.245A>T	X.37:g.107225113T>A	ENSP00000303777:p.Gln82Leu						p.Q82L	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	338	-			82					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.245A>T	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689211	0.48097	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	T	0.56514	0.1990	L	0.61036	1.89	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.39563	-0.9608	8	0.87932	D	0	.	6.8925	0.24236	0.0:0.0:0.0:1.0	.	82	Q9BXU2	TX13B_HUMAN	L	82	.	ENSP00000303777:Q82L	Q	-	2	0	TEX13B	107111769	0.871000	0.30034	0.022000	0.16811	0.054000	0.15201	1.187000	0.32090	1.432000	0.47375	0.376000	0.23039	CAG		0.617	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			48	71	0	0	0	0.00361	0	48	71				
GUCY2F	2986	broad.mit.edu	37	X	108628501	108628501	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:108628501A>C	ENST00000218006.2	-	16	3258	c.2967T>G	c.(2965-2967)gtT>gtG	p.V989V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	989	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.V989V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACTCCAGCAACAACCGGCC	0.478																																							uc004eod.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(2965-2967)GTT>GTG		guanylate cyclase 2F precursor							82.0	65.0	71.0					X																	108628501		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108628501A>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2967T>G	X.37:g.108628501A>C						GUCY2F_uc011msq.1_RNA	p.V989V	NM_001522	NP_001513	P51841	GUC2F_HUMAN			16	3243	-			989			Guanylate cyclase.|Cytoplasmic (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.2967T>G	CCDS14545.1																																																																																				0.478	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		4	99	0	0	0	0.006122	0	4	99				
CT83	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:115593113G>T	ENST00000371894.4	-	2	283	c.137C>A	c.(136-138)tCt>tAt	p.S46Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		46						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S46Y(2)		breast(1)|large_intestine(3)|lung(8)	12						AATTAACCCAGAAGAAGAGGG	0.398																																							uc004eqj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(136-138)TCT>TAT		chromosome X open reading frame 61							116.0	103.0	107.0					X																	115593113		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115593113G>T																												ENST00000371894.4:c.137C>A	X.37:g.115593113G>T	ENSP00000360961:p.Ser46Tyr						p.S46Y	NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN			2	257	-			46			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000371894.4	37	c.137C>A	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095016	0.20471	.	.	ENSG00000204019	ENST00000371894	.	.	.	4.13	0.313	0.15842	.	1.385010	0.05196	N	0.504082	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B	0.31351	0.32	B	0.28385	0.089	T	0.26292	-1.0107	9	0.66056	D	0.02	.	6.0091	0.19565	0.5143:0.0:0.4857:0.0	.	46	Q5H943	KKLC1_HUMAN	Y	46	.	ENSP00000360961:S46Y	S	-	2	0	CXorf61	115507141	.	.	0.000000	0.03702	0.023000	0.10783	.	.	0.055000	0.16094	0.458000	0.33432	TCT		0.398	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			163	169	1	0	1.31883e-95	0.00361	2.52095e-95	163	169				
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:118147138G>T	ENST00000371628.3	+	9	1979	c.1948G>T	c.(1948-1950)Gac>Tac	p.D650Y	LONRF3_ENST00000422289.2_Missense_Mutation_p.D394Y|LONRF3_ENST00000304778.7_Missense_Mutation_p.D609Y|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	650	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.D609Y(2)|p.D650Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAACACAGCCGACATTGAATA	0.488																																							uc004eqw.2		NA																	4	Substitution - Missense(4)		lung(4)	breast(1)|central_nervous_system(1)	2						c.(1948-1950)GAC>TAC		LON peptidase N-terminal domain and ring finger							77.0	70.0	72.0					X																	118147138		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118147138G>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1948G>T	X.37:g.118147138G>T	ENSP00000360690:p.Asp650Tyr					LONRF3_uc004eqx.2_Missense_Mutation_p.D609Y|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.D394Y	p.D650Y	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			9	1979	+			650			Lon.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1948G>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.086649|4.086649	0.76642|0.76642	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Peptidase S16, lon N-terminal (1);PUA-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72431|0.72431	0.3459|0.3459	L|L	0.60455|0.60455	1.87|1.87	0.51767|0.51767	D|D	0.999936|0.999936	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.996;0.998|.	T|T	0.69702|0.69702	-0.5074|-0.5074	10|5	0.72032|.	D|.	0.01|.	-42.3901|-42.3901	17.9971|17.9971	0.89187|0.89187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	394;609;650|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	Y|L	609;609;650;394|415	ENSP00000360691:D609Y;ENSP00000307732:D609Y;ENSP00000360690:D650Y;ENSP00000408894:D394Y|.	ENSP00000307732:D609Y|.	D|R	+|+	1|2	0|0	LONRF3|LONRF3	118031166|118031166	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.994000|0.994000	0.84299|0.84299	4.838000|4.838000	0.62803|0.62803	2.471000|2.471000	0.83476|0.83476	0.600000|0.600000	0.82982|0.82982	GAC|CGA		0.488	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		25	46	1	0	1.55811e-20	0.008361	2.24667e-20	25	46				
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:119512560A>G	ENST00000218008.3	+	7	901	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.I239V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.I278V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	282					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.I278V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CATCCGATCCATCAGTTACTA	0.478																																							uc004esr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(844-846)ATC>GTC		ATPase, (Na+)/K+ transporting, beta 4							227.0	190.0	203.0					X																	119512560		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119512560A>G	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.844A>G	X.37:g.119512560A>G	ENSP00000218008:p.Ile282Val					ATP1B4_uc004esq.2_Missense_Mutation_p.I278V|ATP1B4_uc011mtx.1_Missense_Mutation_p.I247V|ATP1B4_uc011mty.1_Missense_Mutation_p.I239V	p.I282V	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			7	928	+			282			Perinuclear space (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.844A>G	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	A	7.334	0.619560	0.14193	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.31510	1.49;1.49;1.49	5.81	3.49	0.39957	.	0.222920	0.51477	D	0.000092	T	0.14830	0.0358	N	0.11106	0.095	0.44843	D	0.997852	B;B;B;B	0.21225	0.053;0.03;0.027;0.022	B;B;B;B	0.31101	0.036;0.124;0.02;0.012	T	0.09143	-1.0688	10	0.11794	T	0.64	-26.6333	6.975	0.24670	0.7962:0.0:0.2038:0.0	.	239;247;282;278	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	V	282;278;239	ENSP00000218008:I282V;ENSP00000355346:I278V;ENSP00000443334:I239V	ENSP00000218008:I282V	I	+	1	0	ATP1B4	119396588	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.689000	0.46993	1.947000	0.56498	0.486000	0.48141	ATC		0.478	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		107	184	0	0	0	0.00361	0	107	184				
STAG2	10735	broad.mit.edu	37	X	123156495	123156495	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:123156495A>T	ENST00000371160.1	+	3	308	c.18A>T	c.(16-18)gaA>gaT	p.E6D	STAG2_ENST00000371145.3_Missense_Mutation_p.E6D|STAG2_ENST00000371157.3_Missense_Mutation_p.E6D|STAG2_ENST00000218089.9_Missense_Mutation_p.E6D|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.E6D	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	6					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E6D(4)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGCTCCAGAAATACCAACTG	0.308																																							uc004etz.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(1)	5						c.(16-18)GAA>GAT		stromal antigen 2 isoform b							40.0	40.0	40.0					X																	123156495		2203	4292	6495	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123156495A>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.18A>T	X.37:g.123156495A>T	ENSP00000360202:p.Glu6Asp					STAG2_uc004eua.2_Missense_Mutation_p.E6D|STAG2_uc004eub.2_Missense_Mutation_p.E6D|STAG2_uc004euc.2_Missense_Mutation_p.E6D|STAG2_uc004eud.2_Missense_Mutation_p.E6D|STAG2_uc004eue.2_Missense_Mutation_p.E6D	p.E6D	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			2	357	+			6					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.18A>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165366	0.38217	.	.	ENSG00000101972	ENST00000394477;ENST00000218089;ENST00000455404;ENST00000458700;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215;ENST00000394478	T;T;T;T;T;T	0.44083	1.92;0.93;1.5;1.5;1.92;1.5	5.09	5.09	0.68999	.	0.112241	0.64402	D	0.000011	T	0.57198	0.2037	L	0.56769	1.78	0.80722	D	1	B;P	0.52842	0.002;0.956	B;P	0.62184	0.004;0.899	T	0.56661	-0.7942	10	0.41790	T	0.15	-4.2179	14.0565	0.64772	1.0:0.0:0.0:0.0	.	6;6	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	D	6	ENSP00000218089:E6D;ENSP00000397265:E6D;ENSP00000360202:E6D;ENSP00000360199:E6D;ENSP00000360187:E6D;ENSP00000360186:E6D	ENSP00000218089:E6D	E	+	3	2	STAG2	122984176	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.054000	0.76649	1.697000	0.51169	0.441000	0.28932	GAA		0.308	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		17	16	0	0	0	0.010504	0	17	16				
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135288623G>T	ENST00000345434.3	+	2	113	c.32G>T	c.(31-33)aGg>aTg	p.R11M	FHL1_ENST00000370690.3_Missense_Mutation_p.R11M|FHL1_ENST00000535737.1_Missense_Mutation_p.R11M|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.R40M|FHL1_ENST00000370683.1_Missense_Mutation_p.R27M|FHL1_ENST00000370676.3_Missense_Mutation_p.R27M|FHL1_ENST00000394155.2_Missense_Mutation_p.R11M|FHL1_ENST00000543669.1_Missense_Mutation_p.R11M|FHL1_ENST00000394153.2_Missense_Mutation_p.R11M			Q13642	FHL1_HUMAN	four and a half LIM domains 1	11					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)	p.R11M(4)|p.R40M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGCAGGGATCCCTTG	0.557																																							uc004ezo.2		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(31-33)AGG>ATG		four and a half LIM domains 1 isoform 1							166.0	147.0	153.0					X																	135288623		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288623G>T	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.32G>T	X.37:g.135288623G>T	ENSP00000071281:p.Arg11Met					FHL1_uc010nrz.2_Missense_Mutation_p.R11M|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.R11M|FHL1_uc004ezq.2_Missense_Mutation_p.R11M|FHL1_uc011mvy.1_Missense_Mutation_p.R11M|FHL1_uc011mvz.1_Missense_Mutation_p.R11M|FHL1_uc004ezn.2_Missense_Mutation_p.R11M|FHL1_uc011mwa.1_Missense_Mutation_p.R40M|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.R27M|FHL1_uc004ezr.2_5'Flank	p.R11M	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			2	132	+	Acute lymphoblastic leukemia(192;0.000127)		11			C4-type (Potential).		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.32G>T	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567896	0.65651	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.73	5.73	0.89815	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	M	0.80982	2.52	0.54753	D	0.999988	D;D;D;D	0.89917	0.992;1.0;0.999;0.999	P;D;D;D	0.70935	0.827;0.971;0.95;0.957	D	0.93553	0.6888	10	0.51188	T	0.08	.	18.84	0.92180	0.0:0.0:1.0:0.0	.	40;27;27;11	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	M	11;11;11;11;11;11;11;11;11;11;51;11;11;40;27;27;27;11	ENSP00000377710:R11M;ENSP00000359724:R11M;ENSP00000391779:R11M;ENSP00000389920:R11M;ENSP00000444815:R11M;ENSP00000408038:R11M;ENSP00000413798:R11M;ENSP00000443333:R11M;ENSP00000377709:R11M;ENSP00000412642:R11M;ENSP00000414604:R11M;ENSP00000071281:R11M;ENSP00000437673:R40M;ENSP00000359717:R27M;ENSP00000359710:R27M;ENSP00000359708:R11M	ENSP00000071281:R11M	R	+	2	0	FHL1	135116289	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	5.801000	0.69115	2.396000	0.81511	0.600000	0.82982	AGG		0.557	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		117	179	1	0	1.21703e-59	0.00361	2.20166e-59	117	179				
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135429796C>T	ENST00000394143.1	+	6	4222	c.3931C>T	c.(3931-3933)Caa>Taa	p.Q1311*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1248*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1311*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1106*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1311					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q1311*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGTCACCAAACACATTC	0.443																																							uc004ezu.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3931-3933)CAA>TAA		G-protein coupled receptor 112							74.0	66.0	69.0					X																	135429796		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429796C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3931C>T	X.37:g.135429796C>T	ENSP00000377699:p.Gln1311*					GPR112_uc010nsb.1_Nonsense_Mutation_p.Q1106*|GPR112_uc010nsc.1_Nonsense_Mutation_p.Q1078*	p.Q1311*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	4222	+	Acute lymphoblastic leukemia(192;0.000127)		1311			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.3931C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	42	9.471069	0.99180	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	2.92	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.3446	0.38100	0.0:1.0:0.0:0.0	.	.	.	.	X	1311;1311;1106;1248;1106	.	ENSP00000287534:Q1248X	Q	+	1	0	GPR112	135257462	0.859000	0.29813	0.871000	0.34182	0.209000	0.24338	1.635000	0.37134	1.433000	0.47394	0.525000	0.51046	CAA		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			132	206	0	0	0	0.00361	0	132	206				
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:140995285C>A	ENST00000285879.4	+	4	2381	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699								p.L699I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTCCTCTTGAGGGAGA	0.562										HNSCC(15;0.026)																													uc004fbt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2095-2097)CTT>ATT		melanoma antigen family C, 1							62.0	64.0	63.0					X																	140995285		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995285C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2095C>A	X.37:g.140995285C>A	ENSP00000285879:p.Leu699Ile	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L699I	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2381	+	Acute lymphoblastic leukemia(192;6.56e-05)		699					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2095C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	9.614	1.132053	0.21041	.	.	ENSG00000155495	ENST00000285879	T	0.03124	4.04	0.96	0.96	0.19631	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.80722	D	1	P	0.38110	0.618	B	0.25884	0.064	T	0.62263	-0.6891	9	0.52906	T	0.07	.	7.647	0.28325	0.0:0.9999:0.0:1.0E-4	.	699	O60732	MAGC1_HUMAN	I	699	ENSP00000285879:L699I	ENSP00000285879:L699I	L	+	1	0	MAGEC1	140822951	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.660000	0.25009	0.187000	0.20147	0.190000	0.17370	CTT		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		23	30	1	0	3.28513e-13	0.003954	4.25412e-13	23	30				
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:147743879G>T	ENST00000370460.2	+	3	1110	c.631G>T	c.(631-633)Gag>Tag	p.E211*	AFF2_ENST00000370457.5_Nonsense_Mutation_p.E207*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E207*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.E207*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	211					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.E211*(4)|p.E211K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTTGAAGAGTCAAACCC	0.433																																							uc004fcp.2		NA																	5	Substitution - Nonsense(4)|Substitution - Missense(1)		lung(5)	ovary(3)|pancreas(2)	5						c.(631-633)GAG>TAG		fragile X mental retardation 2							162.0	160.0	161.0					X																	147743879		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743879G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.631G>T	X.37:g.147743879G>T	ENSP00000359489:p.Glu211*					AFF2_uc004fco.2_Nonsense_Mutation_p.E207*|AFF2_uc004fcq.2_Nonsense_Mutation_p.E207*|AFF2_uc004fcr.2_Nonsense_Mutation_p.E207*|AFF2_uc011mxb.1_Nonsense_Mutation_p.E211*|AFF2_uc004fcs.2_Nonsense_Mutation_p.E207*	p.E211*	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	1110	+	Acute lymphoblastic leukemia(192;6.56e-05)		211					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.631G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	38	6.851314	0.97885	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.82	4.03	0.46877	.	0.597058	0.17537	N	0.170673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.1198	0.48281	0.1539:0.0:0.8461:0.0	.	.	.	.	X	211;207;207;207	.	ENSP00000345459:E207X	E	+	1	0	AFF2	147551571	1.000000	0.71417	0.482000	0.27366	0.382000	0.30200	4.755000	0.62198	0.589000	0.29677	0.600000	0.82982	GAG		0.433	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		183	258	1	0	2.40723e-144	0.00361	4.65915e-144	183	258				
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:151131077G>A	ENST00000370328.3	-	4	434	c.381C>T	c.(379-381)taC>taT	p.Y127Y	GABRE_ENST00000370325.1_Silent_p.Y127Y|GABRE_ENST00000393914.3_De_novo_Start_InFrame|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	127					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y14Y(2)|p.Y127Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCGTTCGTCGTACCAGGTCT	0.463																																							uc004ffi.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(379-381)TAC>TAT		gamma-aminobutyric acid (GABA) A receptor,							175.0	138.0	151.0					X																	151131077		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151131077G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.381C>T	X.37:g.151131077G>A						GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR452_hsa-mir-452|MI0001733_5'Flank	p.Y127Y	NM_004961	NP_004952	P78334	GBRE_HUMAN			4	435	-	Acute lymphoblastic leukemia(192;6.56e-05)		127			Extracellular (Probable).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.381C>T	CCDS14703.1																																																																																				0.463	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		11	209	0	0	0	0.00245	0	11	209				
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:152814180G>A	ENST00000349466.2	+	9	1532	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*	ATP2B3_ENST00000370186.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W402*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	402					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.W402*(6)|p.W388*(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)					GCCGGACATGGCTGGCAGAGT	0.562																																							uc004fht.1		NA																	8	Substitution - Nonsense(8)		lung(8)	pancreas(1)	1						c.(1204-1206)TGG>TGA		plasma membrane calcium ATPase 3 isoform 3b							167.0	113.0	131.0					X																	152814180		2203	4300	6503	SO:0001587	stop_gained	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152814180G>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.1206G>A	X.37:g.152814180G>A	ENSP00000343886:p.Trp402*					ATP2B3_uc004fhs.1_Nonsense_Mutation_p.W402*	p.W402*	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			8	1332	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		402			Extracellular (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Nonsense_Mutation	SNP	ENST00000349466.2	37	c.1206G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	40	8.187042	0.98696	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7696	16.5343	0.84369	0.0:0.0:1.0:0.0	.	.	.	.	X	388;402;388;402;402;388	.	ENSP00000263519:W402X	W	+	3	0	ATP2B3	152467374	1.000000	0.71417	0.997000	0.53966	0.378000	0.30076	9.768000	0.98965	2.248000	0.74166	0.517000	0.50305	TGG		0.562	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		7	50	0	0	0	0.006214	0	7	50				
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:154157069G>A	ENST00000360256.4	-	14	5196	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1666	B.				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.Q1666*(4)		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)	ATTTCCCGTTGATGGCGTTTC	0.408																																							uc004fmt.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4996-4998)CAA>TAA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						146.0	123.0	131.0					X																	154157069		2203	4300	6503	SO:0001587	stop_gained	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:154157069G>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.4996C>T	X.37:g.154157069G>A	ENSP00000353393:p.Gln1666*						p.Q1666*	NM_000132	NP_000123	P00451	FA8_HUMAN			14	5167	-	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)		1666			B.		Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.4996C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	42	9.744614	0.99253	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.22	3.35	0.38373	.	1.378970	0.04642	N	0.405439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	0.4094	7.5504	0.27793	0.0:0.1785:0.6328:0.1886	.	.	.	.	X	1666	.	ENSP00000353393:Q1666X	Q	-	1	0	F8	153810263	0.003000	0.15002	0.001000	0.08648	0.133000	0.20885	0.459000	0.21908	0.365000	0.24400	0.540000	0.68198	CAA		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			24	341	0	0	0	0.003954	0	24	341				
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:154490316G>T	ENST00000369454.3	-	2	714	c.414C>A	c.(412-414)gcC>gcA	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488																																							uc004fne.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(412-414)GCC>GCA		RAB39B, member RAS oncogene family							121.0	104.0	110.0					X																	154490316		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490316G>T	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.414C>A	X.37:g.154490316G>T							p.A138A	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			2	693	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		138					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.414C>A	CCDS14766.1																																																																																				0.488	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		73	110	1	0	3.80779e-57	0.00361	6.81993e-57	73	110				
RERE	473	broad.mit.edu	37	1	8716109	8716109	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:8716109delT	ENST00000337907.3	-	3	882	c.248delA	c.(247-249)aagfs	p.K83fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.K83fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATAACGAGACTTTTTTTTCGG	0.453																																							uc001ape.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(247-249)AAGfs		atrophin-1 like protein isoform a							313.0	287.0	296.0					1																	8716109		2203	4300	6503	SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716109delT	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.248delA	1.37:g.8716109delT	ENSP00000338629:p.Lys83fs					RERE_uc001apf.2_Frame_Shift_Del_p.K83fs|RERE_uc001aph.1_Frame_Shift_Del_p.K83fs	p.K83fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	1058	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	83					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.248delA	CCDS95.1																																																																																				0.453	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			8	1345	NA	NA	NA	NA	NA	8	1345	---	---	---	---
MST1L	11223	broad.mit.edu	37	1	17085406	17085407	+	RNA	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:17085406_17085407insG	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CCTCCAGTTGTGCATGCGGTTC	0.579																																							uc010ock.1		NA																	0					0						c.(1282-1287)TGCACAfs		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17085406_17085407insG	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085407_17085407dupG						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR	p.C428fs	NR_002729						10	1284_1285	-								B7WPB1|Q13209	Frame_Shift_Ins	INS	ENST00000455405.2	37	c.1284_1285insC																																																																																					0.579	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		8	83	NA	NA	NA	NA	NA	8	83	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:31406073_31406074insG	ENST00000257075.5	-	22	3638_3639	c.3545_3546insC	c.(3544-3546)cctfs	p.P1182fs	SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.P1040fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.P1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.P940fs|PUM1_ENST00000373747.3_Frame_Shift_Ins_p.P1185fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.P1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.P1123fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.P1158fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525																																							uc001bsi.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3544-3546)CCTfs		pumilio 1 isoform 2																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406073_31406074insG	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3546dupC	1.37:g.31406079_31406079dupG	ENSP00000257075:p.Pro1182fs					PUM1_uc001bsf.1_Frame_Shift_Ins_p.P850fs|PUM1_uc001bsg.1_Frame_Shift_Ins_p.P916fs|PUM1_uc001bsh.1_Frame_Shift_Ins_p.P1184fs|PUM1_uc001bsj.1_Frame_Shift_Ins_p.P1158fs|PUM1_uc010oga.1_Frame_Shift_Ins_p.P1040fs|PUM1_uc001bsk.1_Frame_Shift_Ins_p.P1220fs|PUM1_uc010ogb.1_Frame_Shift_Ins_p.P1123fs	p.P1182fs	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3658_3659	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1182					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.3545_3546insC	CCDS338.1																																																																																				0.525	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			7	610	NA	NA	NA	NA	NA	7	610	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.R271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.5																																					Ovarian(173;401 1982 12359 31110 42403)	Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2		NA																	0				ovary(1)	1						c.(928-930)CGGfs		KH domain containing, RNA binding, signal																																				SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503458_32503459insG	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.934dupG	1.37:g.32503464_32503464dupG	ENSP00000313829:p.Arg310fs					KHDRBS1_uc001bua.1_Frame_Shift_Ins_p.R271fs|KHDRBS1_uc001buc.1_RNA	p.R310fs	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			6	1034_1035	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	310			Arg/Gly-rich.			Frame_Shift_Ins	INS	ENST00000327300.7	37	c.928_929insG	CCDS350.1																																																																																				0.500	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		8	285	NA	NA	NA	NA	NA	8	285	---	---	---	---
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414																																							uc001bvn.2		NA																	0					0						c.(1285-1287)GAAdel		zinc finger and BTB domain containing 8A				3,6,4257		0,0,3,0,6,2124						1.9	1.0			101	0,20,8234		0,0,0,0,20,4107	no	codingComplex	ZBTB8A	NM_001040441.1		0,0,3,0,26,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.211,0.2316				3,26,12491				SO:0001651	inframe_deletion	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065979_33065981delGAA	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.1285_1287delGAA	1.37:g.33065988_33065990delGAA	ENSP00000362609:p.Glu433del					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_Intron	p.E433del	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			5	1770_1772	+			433			Poly-Glu.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	In_Frame_Del	DEL	ENST00000373510.4	37	c.1285_1287delGAA	CCDS30664.1																																																																																				0.414	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		7	333	NA	NA	NA	NA	NA	7	333	---	---	---	---
RNF19B	127544	broad.mit.edu	37	1	33402697	33402698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:33402697_33402698insG	ENST00000373456.7	-	9	1907_1908	c.1908_1909insC	c.(1906-1911)ccctgcfs	p.C637fs	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Frame_Shift_Ins_p.C636fs	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	637					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGTGTCTGCAGGGGGGATCCT	0.559																																							uc010oho.1		NA																	0					0						c.(1906-1911)CCCTGCfs		ring finger protein 19B isoform a																																				SO:0001589	frameshift_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402697_33402698insG	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1909dupC	1.37:g.33402703_33402703dupG	ENSP00000362555:p.Cys637fs					RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Frame_Shift_Ins_p.P635fs	p.P636fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN			9	1908_1909	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	636_637					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Frame_Shift_Ins	INS	ENST00000373456.7	37	c.1908_1909insC	CCDS372.2																																																																																				0.559	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		12	458	NA	NA	NA	NA	NA	12	458	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																							uc001caw.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1402-1407)CCCAGCfs		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs					CSF3R_uc001cat.1_Frame_Shift_Ins_p.P31fs|CSF3R_uc009vvc.1_Frame_Shift_Ins_p.P31fs|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Frame_Shift_Ins_p.P468fs|CSF3R_uc001cax.1_Frame_Shift_Ins_p.P468fs|CSF3R_uc001cay.1_Frame_Shift_Ins_p.P468fs	p.P468fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			11	1582_1583	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	468_469			Extracellular (Potential).|Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		10	181	NA	NA	NA	NA	NA	10	181	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048867	42048868	+	Frame_Shift_Ins	INS	-	-	G	rs151333512|rs565544760	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:42048867_42048868insG	ENST00000372583.1	-	4	2486_2487	c.1601_1602insC	c.(1600-1602)cctfs	p.P534fs	HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.P534fs|HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.P534fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.P534fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAGAGGCACAGGGGGGGCGGT	0.594																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1600-1602)CCTfs		human immunodeficiency virus type I enhancer			,	13,4235		0,13,2111					,	-0.5	1.0			51	4,8236		0,4,4116	no	frameshift,frameshift	HIVEP3	NM_024503.4,NM_001127714.2	,	0,17,6227	A1A1,A1R,RR		0.0485,0.306,0.1361	,	,		17,12471				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048867_42048868insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1602dupC	1.37:g.42048874_42048874dupG	ENSP00000361664:p.Pro534fs					HIVEP3_uc001cha.3_Frame_Shift_Ins_p.P534fs|HIVEP3_uc001cgy.2_RNA	p.P534fs	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	2814_2815	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	534			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.1601_1602insC	CCDS463.1																																																																																				0.594	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	111	NA	NA	NA	NA	NA	7	111	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																							uc001chj.2		NA																	0				ovary(1)	1						c.(910-912)CAAfs		zinc finger, MYND-type containing 12 isoform 1																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_uc010ojt.1_Frame_Shift_Ins_p.Q194fs	p.Q304fs	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN			7	1180_1181	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		13	528	NA	NA	NA	NA	NA	13	528	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G	rs541972325	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4473)ttggggfs	p.LG1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.LG648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547					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)				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						TTCAGTATCTTGGGGGGCGACT	0.609																																							uc001cjk.1		NA																	0					0						c.(1942-1944)TTGfs		hypothetical protein LOC23334																																				SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43896326_43896327insG	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.4475dupG	1.37:g.43896332_43896332dupG	ENSP00000457168:p.Leu1490fs						p.L648fs	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			17	2405_2406	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1547					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Ins	INS	ENST00000562955.1	37	c.1943_1944insG	CCDS30694.2																																																																																				0.609	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		7	378	NA	NA	NA	NA	NA	7	378	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)gccfs	p.A696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.47																																							uc001cjx.2		NA																	0				skin(1)	1						c.(2086-2088)GCCfs		jumonji domain containing 2A																																				SO:0001589	frameshift_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156564_44156565insC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2092dupC	1.37:g.44156570_44156570dupC	ENSP00000361473:p.Ala696fs					KDM4A_uc010oki.1_Intron	p.A696fs	NM_014663	NP_055478	O75164	KDM4A_HUMAN			14	2252_2253	+			696					Q5VVB1	Frame_Shift_Ins	INS	ENST00000372396.3	37	c.2086_2087insC	CCDS491.1																																																																																				0.470	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		9	647	NA	NA	NA	NA	NA	9	647	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)gatfs	p.D69fs	PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.D115fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.D69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCTTGAAATATCCCCCCAGTAC	0.381																																							uc001cpb.3		NA																	0					0						c.(205-207)GATfs		phosphoinositide-3-kinase, regulatory subunit 3																																				SO:0001589	frameshift_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46546323_46546324insC	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.206dupG	1.37:g.46546329_46546329dupC	ENSP00000262741:p.Asp69fs					PIK3R3_uc009vyb.2_Frame_Shift_Ins_p.D69fs|PIK3R3_uc009vyc.2_Frame_Shift_Ins_p.D86fs|PIK3R3_uc001cpc.3_Frame_Shift_Ins_p.D69fs|PIK3R3_uc010olw.1_Frame_Shift_Ins_p.D115fs	p.D69fs	NM_003629	NP_003620	Q92569	P55G_HUMAN			2	961_962	-	Acute lymphoblastic leukemia(166;0.155)		69			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Ins	INS	ENST00000262741.5	37	c.205_206insG	CCDS529.1																																																																																				0.381	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		10	1160	NA	NA	NA	NA	NA	10	1160	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																							uc001cxn.2		NA																	1	Deletion - Frameshift(1)		ovary(1)		0						c.(349-354)CCCACTfs		hypothetical protein LOC338094			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					ACOT11_uc001cxm.1_Intron	p.P117fs	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			3	483_484	-			117_118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		18	262	NA	NA	NA	NA	NA	18	262	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																							uc001czi.3		NA																	0				ovary(1)	1						c.(409-414)GTCGGGfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs					FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Frame_Shift_Ins_p.V137fs|FGGY_uc001czj.3_Frame_Shift_Ins_p.V137fs|FGGY_uc001czk.3_Frame_Shift_Ins_p.V25fs|FGGY_uc001czl.3_Intron	p.V137fs	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			4	623_624	+	all_cancers(7;7.36e-05)		137_138					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		14	345	NA	NA	NA	NA	NA	14	345	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																		uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0		p.P430fs*2(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(1288-1290)CCGfs		janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs					JAK1_uc009wam.1_Frame_Shift_Ins_p.P418fs	p.P430fs	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1538_1539	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		9	272	NA	NA	NA	NA	NA	9	272	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																							uc001dfy.3		NA																	0				ovary(2)	2						c.(730-735)AAACAGfs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_uc001dfz.3_RNA	p.K244fs	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			5	924_925	-			244_245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	140	NA	NA	NA	NA	NA	9	140	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																							uc001dna.2		NA																	0				ovary(1)|skin(1)	2						c.(1291-1296)GGGCACfs		guanylate binding protein 4-like																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs					GBP2_uc001dmy.1_RNA	p.G431fs	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1432_1433	-		Lung NSC(277;0.0908)	431_432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		17	200	NA	NA	NA	NA	NA	17	200	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)gcafs	p.A187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.A172fs	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579																																							uc001ebo.1		NA																	0				ovary(2)	2						c.(559-561)GCAfs		hypothetical protein LOC55924 isoform 1																																				SO:0001589	frameshift_variant	55924							g.chr1:112269924_112269925insC	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.560dupG	1.37:g.112269931_112269931dupC	ENSP00000349805:p.Ala187fs					C1orf183_uc001ebp.1_Frame_Shift_Ins_p.A172fs	p.A187fs	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)	2	717_718	-		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)	187					B3KP38|B4DF94|Q9NTI6	Frame_Shift_Ins	INS	ENST00000357260.5	37	c.559_560insG	CCDS841.1																																																																																				0.579	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		10	200	NA	NA	NA	NA	NA	10	200	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118583386	118583387	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:118583386_118583387insC	ENST00000336338.5	-	22	3197_3198	c.3132_3133insG	c.(3130-3135)gggcagfs	p.Q1045fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1045						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.Q1045K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTCAATCTGCCCCCCATCAG	0.371																																							uc001ehk.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(3130-3135)GGGCAGfs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118583386_118583387insC		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3133dupG	1.37:g.118583392_118583392dupC	ENSP00000337804:p.Gln1045fs						p.G1044fs	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	22	3200_3201	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1044_1045					Q8NAZ1|Q9NT21	Frame_Shift_Ins	INS	ENST00000336338.5	37	c.3132_3133insG	CCDS899.1																																																																																				0.371	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	371	NA	NA	NA	NA	NA	7	371	---	---	---	---
NBPF7	343505	broad.mit.edu	37	1	120379931	120379932	+	IGR	INS	-	-	G	rs373002211|rs115348036	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:120379931_120379932insG								REG4 (25648 upstream) : ADAM30 (56223 downstream)																							CAGAGTTACCTGGGGGGGCACT	0.446																																							uc010oxk.1		NA																	0				ovary(1)|skin(1)	2						c.(889-891)CAGfs		hypothetical protein LOC343505																																				SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120379931_120379932insG																													1.37:g.120379938_120379938dupG							p.Q297fs	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	6	1510_1511	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	297			NBPF 2.			Frame_Shift_Ins	INS		37	c.889_890insC																																																																																				0	0.446									7	185	NA	NA	NA	NA	NA	7	185	---	---	---	---
Unknown	0	broad.mit.edu	37	1	121309960	121309961	+	IGR	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:121309960_121309961insA								RP11-344P13.6 (49333 upstream) : RP11-344P13.1 (5782 downstream)																							CAGATGATAGCAATGGTATAGA	0.277																																							uc009wht.1		NA																	0					0						c.(307-312)AGCAATfs		Homo sapiens cDNA FLJ46881 fis, clone UTERU3015647, moderately similar to Embigin precursor.																																				SO:0001628	intergenic_variant	647121							g.chr1:121309960_121309961insA																													1.37:g.121309962_121309962dupA						LOC647121_uc001eiu.1_RNA	p.S103fs							3	338_339	+									Frame_Shift_Ins	INS		37	c.309_310insA																																																																																				0	0.277									15	63	NA	NA	NA	NA	NA	15	63	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																							uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1624-1629)GAACCCfs		integrin, alpha 10 precursor																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Frame_Shift_Ins_p.E411fs|ITGA10_uc009wiw.2_Frame_Shift_Ins_p.E399fs|ITGA10_uc010oyw.1_Frame_Shift_Ins_p.E487fs	p.E542fs	NM_003637	NP_003628	O75578	ITA10_HUMAN			14	1702_1703	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542_543			Extracellular (Potential).|FG-GAP 6.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		16	443	NA	NA	NA	NA	NA	16	443	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145579284	145579285	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:145579284_145579285insC	ENST00000393045.2	+	5	711_712	c.621_622insC	c.(622-624)cccfs	p.P208fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.P173fs|PIAS3_ENST00000369299.3_Frame_Shift_Ins_p.P199fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	208	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGATTATTTTCCCCCCAACCT	0.465																																							uc001eoc.1		NA																	0				ovary(1)	1						c.(619-624)TTTCCCfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145579284_145579285insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.627dupC	1.37:g.145579290_145579290dupC	ENSP00000376765:p.Pro208fs					NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Frame_Shift_Ins_p.F198fs|PIAS3_uc001eod.1_5'Flank	p.F207fs	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			5	712_713	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		207_208			PINIT.		Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.621_622insC	CCDS920.2																																																																																				0.465	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		7	229	NA	NA	NA	NA	NA	7	229	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																							uc001eoc.1		NA																	0				ovary(1)	1						c.(1252-1254)TGCfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs					NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Frame_Shift_Ins_p.C87fs	p.C418fs	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			10	1344_1345	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		12	551	NA	NA	NA	NA	NA	12	551	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147090981	147090982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:147090981_147090982insC	ENST00000234739.3	+	8	1760_1761	c.1020_1021insC	c.(1021-1023)cccfs	p.P341fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	341	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAGTGGCGAGCCCCCCACACT	0.589			T	"""IGH@, IGL@"""	B-ALL																																		uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1018-1023)GAGCCCfs		B-cell CLL/lymphoma 9																																				SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090981_147090982insC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1026dupC	1.37:g.147090987_147090987dupC	ENSP00000234739:p.Pro341fs					BCL9_uc010ozr.1_Frame_Shift_Ins_p.E266fs	p.E340fs	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	1760_1761	+	all_hematologic(923;0.115)		340_341			Pro-rich.		Q5T489	Frame_Shift_Ins	INS	ENST00000234739.3	37	c.1020_1021insC	CCDS30833.1																																																																																				0.589	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	211	NA	NA	NA	NA	NA	7	211	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147092680	147092681	+	Frame_Shift_Ins	INS	-	-	C	rs35292683		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:147092680_147092681insC	ENST00000234739.3	+	8	3459_3460	c.2719_2720insC	c.(2719-2721)tccfs	p.S907fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGTT	0.619			T	"""IGH@, IGL@"""	B-ALL																																		uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(2719-2721)TCCfs		B-cell CLL/lymphoma 9																																				SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092680_147092681insC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2726dupC	1.37:g.147092687_147092687dupC	ENSP00000234739:p.Ser907fs					BCL9_uc010ozr.1_Frame_Shift_Ins_p.S833fs	p.S907fs	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	3459_3460	+	all_hematologic(923;0.115)		907			Pro-rich.		Q5T489	Frame_Shift_Ins	INS	ENST00000234739.3	37	c.2719_2720insC	CCDS30833.1																																																																																				0.619	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		8	204	NA	NA	NA	NA	NA	8	204	---	---	---	---
CELF3	11189	broad.mit.edu	37	1	151680126	151680127	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151680126_151680127insG	ENST00000290583.4	-	7	1424		c.e7-2		RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000290585.4_Splice_Site|CELF3_ENST00000392706.3_Splice_Site|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_Splice_Site|AL589765.1_ENST00000442233.2_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CTGCATCAGCTGGGGGGAGGGG	0.693																																							uc001eys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e7-1		trinucleotide repeat containing 4																																				SO:0001630	splice_region_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680126_151680127insG	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.631-2->C	1.37:g.151680132_151680132dupG						CELF3_uc010pdh.1_Splice_Site_p.L19_splice|CELF3_uc001eyr.2_Splice_Site_p.L210_splice|CELF3_uc009wmy.2_Splice_Site_p.L211_splice|CELF3_uc009wmx.1_Splice_Site_p.L211_splice|CELF3_uc001eyt.2_Intron|C1orf230_uc001eyu.2_5'Flank	p.L211_splice	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN			7	1425	-								B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Splice_Site	INS	ENST00000290583.4	37	c.631_splice	CCDS1002.1																																																																																				0.693	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	Intron	2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																														uc001fes.2		NA																	0					0						c.(421-426)TTTGGGfs		HCLS1 associated protein X-1 isoform a																																				SO:0001589	frameshift_variant	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs					HAX1_uc001fet.2_Frame_Shift_Ins_p.F93fs|HAX1_uc010peo.1_Frame_Shift_Ins_p.F149fs|HAX1_uc009wou.2_Frame_Shift_Ins_p.F66fs|HAX1_uc009wov.2_Frame_Shift_Ins_p.F115fs	p.F141fs	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	584_585	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141_142			Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		7	244	NA	NA	NA	NA	NA	7	244	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																							uc001fpw.1		NA																	0					0						c.(52-54)CATfs		mitochondrial ribosomal protein L24 precursor																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs					MRPL24_uc001fpx.1_Frame_Shift_Ins_p.H18fs	p.H18fs	NM_024540	NP_078816	Q96A35	RM24_HUMAN			2	191_192	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		9	81	NA	NA	NA	NA	NA	9	81	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1134)gtccccfs	p.VP377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.53			T	TFE3	papillary renal																																		uc001fqa.2		NA		Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal 	PRCC/TFE3(25)	1	Insertion - Frameshift(1)		lung(1)	kidney(25)|central_nervous_system(2)	27						c.(1129-1131)GTCfs		papillary renal cell carcinoma				24,4242		0,24,2109						4.4	0.9			74	14,8240		0,14,4113	no	frameshift	PRCC	NM_005973.4		0,38,6222	A1A1,A1R,RR		0.1696,0.5626,0.3035				38,12482				SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761535_156761536insC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1138dupC	1.37:g.156761543_156761543dupC	ENSP00000271526:p.Val377fs					PRCC_uc001fqb.2_Intron	p.V377fs	NM_005973	NP_005964	Q92733	PRCC_HUMAN			4	1420_1421	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Ins	INS	ENST00000271526.4	37	c.1130_1131insC	CCDS1157.1																																																																																				0.530	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		22	252	NA	NA	NA	NA	NA	22	252	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(259-261)gggfs	p.G87fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(256-261)GCTGGGfs		olfactory receptor, family 10, subfamily Z,																																				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576486_158576487insG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.265dupG	1.37:g.158576493_158576493dupG	ENSP00000354707:p.Gly87fs						p.A86fs	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	258_259	+	all_hematologic(112;0.0378)		86_87			Extracellular (Potential).		Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	c.258_259insG	CCDS30901.1																																																																																				0.554	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		39	1371	NA	NA	NA	NA	NA	39	1371	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)accfs	p.T282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.46																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(844-846)ACCfs		olfactory receptor, family 10, subfamily Z,																																				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577072_158577073insC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.850dupC	1.37:g.158577078_158577078dupC	ENSP00000354707:p.Thr282fs						p.T282fs	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	844_845	+	all_hematologic(112;0.0378)		282			Helical; Name=7; (Potential).		Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	c.844_845insC	CCDS30901.1																																																																																				0.460	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		12	2020	NA	NA	NA	NA	NA	12	2020	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012017	160012018	+	Frame_Shift_Ins	INS	-	-	G	rs372156619|rs561081191		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160012017_160012018insG	ENST00000368089.3	-	2	531_532	c.305_306insC	c.(304-306)ccgfs	p.P102fs	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	102					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TGTGGTTGGCCGGGGGGTCCAG	0.584																																					GBM(167;1368 2014 14817 36425 43215)	GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1		NA																	0				ovary(1)	1						c.(304-306)CCGfs		potassium inwardly-rectifying channel, subfamily																																				SO:0001589	frameshift_variant	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012017_160012018insG	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.306dupC	1.37:g.160012023_160012023dupG	ENSP00000357068:p.Pro102fs						p.P102fs	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	455_456	-	all_hematologic(112;0.093)		102			Extracellular (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Frame_Shift_Ins	INS	ENST00000368089.3	37	c.305_306insC	CCDS1193.1																																																																																				0.584	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		7	535	NA	NA	NA	NA	NA	7	535	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160388801	160388802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160388801_160388802insG	ENST00000368061.2	+	4	676_677	c.202_203insG	c.(202-204)tggfs	p.W68fs		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	68					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.E70fs*17(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGACAACTGGGGGGAAACG	0.554																																							uc001fwb.1		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(1)	1						c.(202-204)TGGfs		vang-like 2																																				SO:0001589	frameshift_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160388801_160388802insG	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.208dupG	1.37:g.160388807_160388807dupG	ENSP00000357040:p.Trp68fs					VANGL2_uc001fwc.1_Frame_Shift_Ins_p.W68fs	p.W68fs	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	501_502	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		68			Cytoplasmic (Potential).		D3DVE9|Q5T212	Frame_Shift_Ins	INS	ENST00000368061.2	37	c.202_203insG	CCDS30915.1																																																																																				0.554	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		11	597	NA	NA	NA	NA	NA	11	597	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160593935	160593936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160593935_160593936insC	ENST00000302035.6	-	4	1089_1090	c.740_741insG	c.(739-741)ggtfs	p.G247fs	SLAMF1_ENST00000235739.5_Intron|SLAMF1_ENST00000538290.1_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Ins_p.G247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	247					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCATGATGACACCCCCTAACAG	0.391																																							uc001fwl.3		NA																	0				ovary(1)|breast(1)	2						c.(739-741)GGTfs		signaling lymphocytic activation molecule family																																				SO:0001589	frameshift_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160593935_160593936insC	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.741dupG	1.37:g.160593940_160593940dupC	ENSP00000306190:p.Gly247fs					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_Intron	p.G247fs	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	1086_1087	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		247			Helical; (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Frame_Shift_Ins	INS	ENST00000302035.6	37	c.740_741insG	CCDS1207.1																																																																																				0.391	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			8	2330	NA	NA	NA	NA	NA	8	2330	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																							uc001ger.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(664-669)CCCAATfs		adenylate cyclase 10																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs					ADCY10_uc009wvk.2_Frame_Shift_Ins_p.P130fs|ADCY10_uc010plj.1_Frame_Shift_Ins_p.P69fs|ADCY10_uc009wvl.2_Frame_Shift_Ins_p.P221fs|ADCY10_uc009wvm.2_RNA	p.P222fs	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			7	964_965	-			222_223					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.666_667insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		10	613	NA	NA	NA	NA	NA	10	613	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179078403	179078404	+	Frame_Shift_Ins	INS	-	-	G	rs138240636	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:179078403_179078404insG	ENST00000502732.1	-	12	2201_2202	c.1998_1999insC	c.(1996-2001)cccaaafs	p.K667fs	ABL2_ENST00000344730.3_Frame_Shift_Ins_p.K652fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.K631fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.K646fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.K631fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.K667fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.K646fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.K652fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	667					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTGCTGCGTTTGGGGGGTGTAG	0.505			T	ETV6	AML																																		uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1996-2001)CCCAAAfs		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078403_179078404insG	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1999dupC	1.37:g.179078409_179078409dupG	ENSP00000427562:p.Lys667fs					ABL2_uc010pnf.1_Frame_Shift_Ins_p.P666fs|ABL2_uc010png.1_Frame_Shift_Ins_p.P645fs|ABL2_uc010pnh.1_Frame_Shift_Ins_p.P645fs|ABL2_uc001gmg.3_Frame_Shift_Ins_p.P651fs|ABL2_uc001gmi.3_Frame_Shift_Ins_p.P651fs|ABL2_uc001gmh.3_Frame_Shift_Ins_p.P630fs|ABL2_uc010pne.1_Frame_Shift_Ins_p.P630fs	p.P666fs	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	2285_2286	-			666_667					A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Ins	INS	ENST00000502732.1	37	c.1998_1999insC	CCDS30947.1																																																																																				0.505	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		7	461	NA	NA	NA	NA	NA	7	461	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)ggafs	p.G787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668																																							uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.(2359-2361)GGAfs		niban protein isoform 2																																				SO:0001589	frameshift_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764537_184764538insC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2361dupG	1.37:g.184764543_184764543dupC	ENSP00000356481:p.Gly787fs					FAM129A_uc001grb.1_Intron	p.G787fs	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2554_2555	-			787			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Ins	INS	ENST00000367511.3	37	c.2360_2361insG	CCDS1364.1																																																																																				0.668	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			8	542	NA	NA	NA	NA	NA	8	542	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200956270	200956271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:200956270_200956271insG	ENST00000422435.2	-	25	3783_3784	c.3467_3468insC	c.(3466-3468)ccafs	p.P1156fs	KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000332129.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1156					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGATATCCAGTGGGGGGCCCAG	0.559																																							uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(3466-3468)CCAfs		kinesin family member 21B																																				SO:0001589	frameshift_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200956270_200956271insG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3468dupC	1.37:g.200956276_200956276dupG	ENSP00000411831:p.Pro1156fs					KIF21B_uc001gvr.1_Frame_Shift_Ins_p.P1156fs|KIF21B_uc009wzl.1_Frame_Shift_Ins_p.P1156fs|KIF21B_uc010ppn.1_Frame_Shift_Ins_p.P1156fs	p.P1156fs	NM_017596	NP_060066	O75037	KI21B_HUMAN			25	3784_3785	-			1156					B2RP62|B7ZMI0|Q5T4J3	Frame_Shift_Ins	INS	ENST00000422435.2	37	c.3467_3468insC	CCDS58056.1																																																																																				0.559	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		12	435	NA	NA	NA	NA	NA	12	435	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201035446	201035447	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:201035446_201035447insG	ENST00000362061.3	-	21	2884		c.e21-2		CACNA1S_ENST00000367338.3_Splice_Site	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCACTGGACCTGGGGGGCGGCA	0.644																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.e21-1		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001630	splice_region_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201035446_201035447insG	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2658-2->C	1.37:g.201035452_201035452dupG							p.E886_splice	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			21	2885	-								A4IF51|B1ALM2|Q12896|Q13934	Splice_Site	INS	ENST00000362061.3	37	c.2658_splice	CCDS1407.1																																																																																				0.644	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Intron	9	215	NA	NA	NA	NA	NA	9	215	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1747-1752)GGGAGGfs		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs						p.G583fs	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			12	1976_1977	-			583_584			II.|Extracellular (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		11	356	NA	NA	NA	NA	NA	11	356	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|MIR1231_ENST00000408101.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																							uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(4492-4497)GAGCCCfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs					NAV1_uc001gwx.2_Frame_Shift_Ins_p.E1107fs	p.E1498fs	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			22	4841_4842	+			1501_1502					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4494_4495insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		7	451	NA	NA	NA	NA	NA	7	451	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																							uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(253-255)ATCfs		plasma membrane calcium ATPase 4 isoform 4b																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs					ATP2B4_uc001gzv.2_Frame_Shift_Ins_p.I85fs|ATP2B4_uc009xaq.2_Frame_Shift_Ins_p.I85fs	p.I85fs	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1138_1139	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		7	276	NA	NA	NA	NA	NA	7	276	---	---	---	---
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C	rs562433962	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.54																																							uc001hbt.2		NA																	0					0						c.(754-756)GGCfs		transmembrane protein 81 precursor																																				SO:0001589	frameshift_variant	388730					integral to membrane		g.chr1:205052693_205052694insC	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.756dupG	1.37:g.205052700_205052700dupC	ENSP00000356135:p.Gly252fs						p.G252fs	NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	895_896	-	all_cancers(21;0.144)|Breast(84;0.0437)		252			Cytoplasmic (Potential).		Q6UVZ4	Frame_Shift_Ins	INS	ENST00000367167.3	37	c.755_756insG	CCDS1450.1																																																																																				0.540	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		11	414	NA	NA	NA	NA	NA	11	414	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(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						TGGAGTGCTGTCCCCCCCACAT	0.396																																							uc001hfw.2		NA																	1	Deletion - Frameshift(1)		breast(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(616-618)GTCfs		complement component (3d/Epstein Barr virus)																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	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.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs					CR2_uc001hfv.2_Frame_Shift_Ins_p.V206fs|CR2_uc009xch.2_Frame_Shift_Ins_p.V206fs|CR2_uc009xci.1_5'Flank	p.V206fs	NM_001877	NP_001868	P20023	CR2_HUMAN			3	711_712	+			206			Sushi 3.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		13	601	NA	NA	NA	NA	NA	13	601	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:215821895_215821896insG	ENST00000307340.3	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cccatgfs	p.M4853fs	USH2A_ENST00000366943.2_Frame_Shift_Ins_p.M4853fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		TTGGGGAACATGGGGGGACTCC	0.54										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14554-14559)CCCATGfs		usherin isoform B																																				SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215821895_215821896insG	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.14557dupC	1.37:g.215821901_215821901dupG	ENSP00000305941:p.Met4853fs	HNSCC(13;0.011)					p.P4852fs	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14943_14944	-			4852_4853			Extracellular (Potential).|Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Ins	INS	ENST00000307340.3	37	c.14556_14557insC	CCDS31025.1																																																																																				0.540	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	692	NA	NA	NA	NA	NA	8	692	---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220406172	220406172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:220406172delC	ENST00000358951.2	-	2	265	c.149delG	c.(148-150)ggafs	p.G50fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	50					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTCCCATGCTCCCCAACCATC	0.328																																							uc010puk.1		NA																	0				central_nervous_system(1)	1						c.(148-150)GGAfs		rab3 GTPase-activating protein, non-catalytic							215.0	194.0	201.0					1																	220406172		2203	4300	6503	SO:0001589	frameshift_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220406172delC	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.149delG	1.37:g.220406172delC	ENSP00000351832:p.Gly50fs					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Frame_Shift_Del_p.G50fs	p.G50fs	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	2	313	-			50					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Frame_Shift_Del	DEL	ENST00000358951.2	37	c.149delG	CCDS31028.1																																																																																				0.328	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		66	177	NA	NA	NA	NA	NA	66	177	---	---	---	---
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:226413314delA	ENST00000366810.5	+	2	564	c.500delA	c.(499-501)gaafs	p.E167fs	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Frame_Shift_Del_p.E175fs			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CCTGGAACTGAAACGAAATGT	0.552																																					Pancreas(72;1302 1881 20981 22800)	Pancreas(72;1302 1881 20981 22800)	uc010pvm.1		NA																	0					0						c.(499-501)GAAfs		Mix-like homeobox protein 1							85.0	83.0	84.0					1																	226413314		2203	4300	6503	SO:0001589	frameshift_variant	83881				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:226413314delA	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.500delA	1.37:g.226413314delA	ENSP00000355775:p.Glu167fs						p.E167fs	NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	2	500	+	Breast(184;0.158)		167					B7ZLF9	Frame_Shift_Del	DEL	ENST00000366810.5	37	c.500delA	CCDS1552.1																																																																																				0.552	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3			21	82	NA	NA	NA	NA	NA	21	82	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T	rs537841535		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aaacgcfs	p.R1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366																																							uc001hwd.2		NA																	0				ovary(2)|skin(1)	3						c.(3469-3474)AAACGCfs		TAR RNA binding protein 1																																				SO:0001589	frameshift_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556531_234556532insT		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3472dupA	1.37:g.234556537_234556537dupT	ENSP00000040877:p.Arg1158fs						p.K1157fs	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3471_3472	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1157_1158					Q9H581	Frame_Shift_Ins	INS	ENST00000040877.1	37	c.3471_3472insA	CCDS1601.1																																																																																				0.366	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		7	907	NA	NA	NA	NA	NA	7	907	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419937	247419938	+	IGR	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247419937_247419938insC								RP11-488L18.8 (14812 upstream) : Y_RNA (38198 downstream)																							CACTGCGGCTACCCCCAGTGAA	0.46																																						GBM(98;63 1399 4825 21305 33017)	uc010pyu.1		NA																	0					0						c.(562-567)CTACCCfs		vomeronasal 1 receptor 5																																				SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419937_247419938insC																													1.37:g.247419942_247419942dupC							p.L188fs	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	564_565	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	188_189			Cytoplasmic (Potential).			Frame_Shift_Ins	INS		37	c.564_565insC																																																																																				0	0.460									7	1319	NA	NA	NA	NA	NA	7	1319	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G	rs577492421		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)cagfs	p.Q3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.45																																							uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10285-10287)CAGfs		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877089_16877090insG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10286dupC	10.37:g.16877095_16877095dupG	ENSP00000367064:p.Gln3429fs						p.Q3429fs	NM_001081	NP_001072	O60494	CUBN_HUMAN			64	10337_10338	-			3429			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.10285_10286insC	CCDS7113.1																																																																																				0.450	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		10	536	NA	NA	NA	NA	NA	10	536	---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)ccafs	p.P314fs	PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.P174fs|PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.P255fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584																																							uc001irl.3		NA																	0				ovary(1)|skin(1)	2						c.(940-942)CCAfs		phosphatidylinositol-5-phosphate 4-kinase, type																																				SO:0001589	frameshift_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830827_22830828insG	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.942dupC	10.37:g.22830834_22830834dupG	ENSP00000365757:p.Pro314fs					PIP4K2A_uc010qcu.1_Frame_Shift_Ins_p.P174fs	p.P314fs	NM_005028	NP_005019	P48426	PI42A_HUMAN			8	1189_1190	-			314			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Frame_Shift_Ins	INS	ENST00000376573.4	37	c.941_942insC	CCDS7141.1																																																																																				0.584	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		7	133	NA	NA	NA	NA	NA	7	133	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:27322258_27322259insT	ENST00000376087.4	-	25	3867_3868	c.3702_3703insA	c.(3700-3705)aaacaafs	p.Q1235fs	ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.Q792fs|ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.Q1251fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGGG	0.322																																							uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3697-3702)AAACAAfs		ankyrin repeat domain 26																																				SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27322258_27322259insT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3703dupA	10.37:g.27322265_27322265dupT	ENSP00000365255:p.Gln1235fs					ANKRD26_uc001itg.2_Frame_Shift_Ins_p.K920fs|ANKRD26_uc009xku.1_Frame_Shift_Ins_p.K1234fs	p.K1233fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			25	3871_3872	-			1233_1234			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Ins	INS	ENST00000376087.4	37	c.3699_3700insA	CCDS41499.1																																																																																				0.322	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	749	NA	NA	NA	NA	NA	7	749	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)ggafs	p.G349fs	ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.G349fs|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401																																							uc001izd.1		NA																	0				ovary(1)	1						c.(1045-1047)GGAfs		zinc finger protein 248																																				SO:0001589	frameshift_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121236_38121237insC	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1047dupG	10.37:g.38121242_38121242dupC	ENSP00000379208:p.Gly349fs					ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Frame_Shift_Ins_p.G349fs	p.G349fs	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			6	1545_1546	-			349					Q8NDV8|Q9UMP3	Frame_Shift_Ins	INS	ENST00000395867.3	37	c.1046_1047insG	CCDS7194.1																																																																																				0.401	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		7	569	NA	NA	NA	NA	NA	7	569	---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	47909192	47909193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:47909192_47909193insC	ENST00000358474.5	+	10	762_763	c.762_763insC	c.(763-765)cccfs	p.P255fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		255					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTTATTCACACCCCCCAAGCT	0.515																																							uc009xni.2		NA																	0				ovary(1)	1						c.(760-765)ACACCCfs		hypothetical protein LOC55747																																				SO:0001589	frameshift_variant	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47909192_47909193insC																												ENST00000358474.5:c.768dupC	10.37:g.47909198_47909198dupC	ENSP00000351259:p.Pro255fs					FAM21B_uc001jep.3_Frame_Shift_Ins_p.T149fs	p.T254fs	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN			10	762_763	+			254_255						Frame_Shift_Ins	INS	ENST00000358474.5	37	c.762_763insC	CCDS44379.1																																																																																				0.515	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			18	308	NA	NA	NA	NA	NA	18	308	---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53458899	53458900	+	Frame_Shift_Ins	INS	-	-	G	rs181270695	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:53458899_53458900insG	ENST00000331173.4	-	1	455_456	c.410_411insC	c.(409-411)ccgfs	p.P137fs	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	137					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ACATCTGCTCCGGGGGGAGACT	0.515																																							uc001jjp.2		NA																	0				ovary(1)	1						c.(409-411)CCGfs		cleavage stimulation factor, 3' pre-RNA, subunit																																				SO:0001589	frameshift_variant	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458899_53458900insG	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.411dupC	10.37:g.53458905_53458905dupG	ENSP00000332444:p.Pro137fs					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.P137fs	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	456_457	-			137					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Frame_Shift_Ins	INS	ENST00000331173.4	37	c.410_411insC	CCDS7245.1																																																																																				0.515	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		8	150	NA	NA	NA	NA	NA	8	150	---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62645896	62645897	+	Frame_Shift_Ins	INS	-	-	C	rs566098008		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:62645896_62645897insC	ENST00000337910.5	-	7	1885_1886	c.1548_1549insG	c.(1546-1551)gggtcafs	p.S517fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.S517fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	517	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCCACAAATGACCCCCCGAACA	0.48																																							uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1546-1551)GGGTCAfs		Rho-related BTB domain containing 1																																				SO:0001589	frameshift_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62645896_62645897insC	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1549dupG	10.37:g.62645902_62645902dupC	ENSP00000338671:p.Ser517fs					RHOBTB1_uc001jlh.2_Frame_Shift_Ins_p.G516fs|RHOBTB1_uc001jlj.2_Frame_Shift_Ins_p.G516fs|RHOBTB1_uc001jlk.2_Frame_Shift_Ins_p.G516fs|RHOBTB1_uc009xpe.1_Frame_Shift_Ins_p.G454fs|RHOBTB1_uc001jll.2_Frame_Shift_Ins_p.G266fs	p.G516fs	NM_014836	NP_055651	O94844	RHBT1_HUMAN			8	1986_1987	-	Prostate(12;0.0112)		516_517			BTB 2.			Frame_Shift_Ins	INS	ENST00000337910.5	37	c.1548_1549insG	CCDS7261.1																																																																																				0.480	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			8	595	NA	NA	NA	NA	NA	8	595	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																							uc001juw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1366-1371)GTTCCCfs		SEC24-related protein C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC						SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.2_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.1_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.V456fs	NM_004922	NP_004913	P53992	SC24C_HUMAN			11	1547_1548	+	Prostate(51;0.0112)		456_457					B4DZT4|Q8WV25	Frame_Shift_Ins	INS	ENST00000339365.2	37	c.1368_1369insC	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	17	472	NA	NA	NA	NA	NA	17	472	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5641-5643)cccfs	p.P1881fs	KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.P1698fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.P1589fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1881	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCATGACCCCACCCCCCAACCT	0.535																																							uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(5638-5643)CCACCCfs		MYST histone acetyltransferase (monocytic																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76790222_76790223insC	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5646dupC	10.37:g.76790228_76790228dupC	ENSP00000287239:p.Pro1881fs					MYST4_uc001jwo.1_Frame_Shift_Ins_p.P1588fs|MYST4_uc001jwp.1_Frame_Shift_Ins_p.P1697fs	p.P1880fs	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	6133_6134	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1880_1881			Interaction with RUNX1 and RUNX2.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Ins	INS	ENST00000287239.4	37	c.5640_5641insC	CCDS7345.1																																																																																				0.535	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		21	344	NA	NA	NA	NA	NA	21	344	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072445	81072446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:81072445_81072446insC	ENST00000334512.5	+	25	3715_3716	c.3143_3144insC	c.(3142-3147)gaccccfs	p.DP1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Ins_p.DP114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTTATCTGGACCCCCCCGACC	0.559																																							uc001kaf.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(3142-3144)GACfs		retinoic acid induced 17																																				SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072445_81072446insC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3150dupC	10.37:g.81072452_81072452dupC	ENSP00000334474:p.Asp1048fs					ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.D114fs	p.D1048fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3715_3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Ins	INS	ENST00000334512.5	37	c.3143_3144insC	CCDS7357.1																																																																																				0.559	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	145	NA	NA	NA	NA	NA	9	145	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:93272060_93272061insC	ENST00000298068.5	+	21	2344_2345	c.2250_2251insC	c.(2251-2253)cccfs	p.P751fs	HECTD2_ENST00000446394.1_Frame_Shift_Ins_p.P755fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.P340fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.P401fs	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356																																					NSCLC(12;376 469 1699 39910 41417)	NSCLC(12;376 469 1699 39910 41417)	uc001khl.2		NA																	0				skin(1)	1						c.(2248-2253)CTTCCCfs		HECT domain containing 2 isoform a																																				SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93272060_93272061insC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2256dupC	10.37:g.93272066_93272066dupC	ENSP00000298068:p.Pro751fs					LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Frame_Shift_Ins_p.L754fs|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Frame_Shift_Ins_p.L339fs|HECTD2_uc001khn.1_Frame_Shift_Ins_p.L400fs	p.L750fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			21	2350_2351	+			750_751			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Ins	INS	ENST00000298068.5	37	c.2250_2251insC	CCDS7414.1																																																																																				0.356	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			12	905	NA	NA	NA	NA	NA	12	905	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95169434	95169435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:95169434_95169435insC	ENST00000359263.4	-	6	494_495	c.495_496insG	c.(493-498)gggcccfs	p.P166fs	MYOF_ENST00000371489.1_Frame_Shift_Ins_p.P166fs|MYOF_ENST00000371501.4_Frame_Shift_Ins_p.P166fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.P166fs|MYOF_ENST00000358334.5_Frame_Shift_Ins_p.P166fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	166					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCCCTTGGGCCCAGGGCCCC	0.535																																							uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(493-498)GGGCCCfs		myoferlin isoform a			,	8,3638		0,8,1815					,	4.4	0.5			236	25,7833		1,23,3905	no	frameshift,frameshift	MYOF	NM_133337.2,NM_013451.3	,	1,31,5720	A1A1,A1R,RR		0.3181,0.2194,0.2869	,	,		33,11471				SO:0001589	frameshift_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95169434_95169435insC	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.496dupG	10.37:g.95169437_95169437dupC	ENSP00000352208:p.Pro166fs					MYOF_uc001kio.2_Frame_Shift_Ins_p.G165fs|MYOF_uc001kip.3_Frame_Shift_Ins_p.G165fs|MYOF_uc009xuf.2_Frame_Shift_Ins_p.G147fs	p.G165fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			6	618_619	-			165_166			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Ins	INS	ENST00000359263.4	37	c.495_496insG	CCDS41551.1																																																																																				0.535	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		68	1054	NA	NA	NA	NA	NA	68	1054	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)cttfs	p.L421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.48																																							uc001kml.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1261-1263)CTTfs		tolloid-like 2 precursor																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98164994_98164995insG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1262dupC	10.37:g.98165000_98165000dupG	ENSP00000350630:p.Leu421fs					TLL2_uc009xvf.1_Frame_Shift_Ins_p.L399fs	p.L421fs	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1487_1488	-		Colorectal(252;0.0846)	421			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.1261_1262insC	CCDS7449.1																																																																																				0.480	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			11	792	NA	NA	NA	NA	NA	11	792	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98188503	98188504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98188503_98188504insC	ENST00000357947.3	-	5	747_748	c.522_523insG	c.(520-525)gggagcfs	p.S175fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	175	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCTCTGGCTCCCTGAAACAA	0.446																																							uc001kml.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(520-525)GGGAGCfs		tolloid-like 2 precursor																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98188503_98188504insC	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.523dupG	10.37:g.98188506_98188506dupC	ENSP00000350630:p.Ser175fs					TLL2_uc009xvf.1_Frame_Shift_Ins_p.G122fs	p.G174fs	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	5	748_749	-		Colorectal(252;0.0846)	174_175			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.522_523insG	CCDS7449.1																																																																																				0.446	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			19	93	NA	NA	NA	NA	NA	19	93	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																							uc001kmm.3		NA																	0					0						c.(214-216)AGTfs		transmembrane 9 superfamily member 3 precursor							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs					TM9SF3_uc010qot.1_Frame_Shift_Del_p.S72fs	p.S72fs	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	431	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	376	NA	NA	NA	NA	NA	7	376	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-174)gaggggfs	p.EG57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401																																							uc001kqd.3		NA																	0				breast(1)	1						c.(169-171)GAGfs		cutC copper transporter homolog																																				SO:0001589	frameshift_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101499503_101499504insG	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.176dupG	10.37:g.101499509_101499509dupG	ENSP00000359507:p.Glu57fs					CUTC_uc010qpk.1_Frame_Shift_Ins_p.E57fs|CUTC_uc001kqe.3_RNA	p.E57fs	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	3	318_319	+		Colorectal(252;0.234)	57					Q5TCZ8|Q9Y321	Frame_Shift_Ins	INS	ENST00000370476.5	37	c.170_171insG	CCDS7483.1																																																																																				0.401	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		9	501	NA	NA	NA	NA	NA	9	501	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																							uc001kql.2		NA																	0				central_nervous_system(3)|pancreas(1)	4						c.(946-951)CCCGAAfs		carboxypeptidase N, polypeptide 1 precursor																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs						p.P316fs	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1208_1209	-		Colorectal(252;0.234)	316_317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		10	715	NA	NA	NA	NA	NA	10	715	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																							uc001lcd.2		NA																	0					0						c.(586-591)GTGCCCfs		TruB pseudouridine (psi) synthase homolog 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs					TRUB1_uc010qsl.1_Frame_Shift_Ins_p.V98fs	p.V196fs	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196_197					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		9	292	NA	NA	NA	NA	NA	9	292	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																							uc010qzi.1		NA																	0				ovary(1)	1						c.(439-441)TCCfs		olfactory receptor, family 52, subfamily B,																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs					HBG2_uc001mak.1_Intron	p.S147fs	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147			Cytoplasmic (Potential).		Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		9	953	NA	NA	NA	NA	NA	9	953	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																							uc001mem.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(703-705)CGGfs		dachsous 1 precursor				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs						p.R235fs	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1113_1114	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.|Extracellular (Potential).		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	123	NA	NA	NA	NA	NA	8	123	---	---	---	---
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:14529252_14529254delCAT	ENST00000396394.2	-	9	1079_1081	c.683_685delATG	c.(682-687)gatgtg>gtg	p.D228del	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.D234del|PSMA1_ENST00000530457.1_In_Frame_Del_p.D203del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.D228del|PSMA1_ENST00000524606.1_5'UTR	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.36																																							uc001mlk.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(682-687)GATGTG>GTG		proteasome alpha 1 subunit isoform 2																																				SO:0001651	inframe_deletion	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14529252_14529254delCAT	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.683_685delATG	11.37:g.14529261_14529263delCAT	ENSP00000379676:p.Asp228del					PSMA1_uc001mll.2_In_Frame_Del_p.D234del|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_In_Frame_Del_p.D203del	p.D228del	NM_002786	NP_002777	P25786	PSA1_HUMAN			9	829_831	-			228					A8K400|Q53YE8|Q9BRV9	In_Frame_Del	DEL	ENST00000396394.2	37	c.683_685delATG	CCDS7816.1																																																																																				0.360	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		7	518	NA	NA	NA	NA	NA	7	518	---	---	---	---
PLEKHA7	144100	broad.mit.edu	37	11	16822524	16822525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:16822524_16822525insA	ENST00000355661.3	-	17	2415_2416	c.2405_2406insT	c.(2404-2406)ttcfs	p.F802fs	PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.F802fs|PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.F802fs|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	802					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGGTCACCTGGAAAAAAAAGGC	0.446																																							uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2404-2406)TTCfs		pleckstrin homology domain containing, family A																																				SO:0001589	frameshift_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16822524_16822525insA	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2406dupT	11.37:g.16822532_16822532dupA	ENSP00000347883:p.Phe802fs					PLEKHA7_uc010rcu.1_Frame_Shift_Ins_p.F802fs|PLEKHA7_uc010rcv.1_Frame_Shift_Ins_p.F376fs|PLEKHA7_uc001mmn.2_Frame_Shift_Ins_p.F510fs	p.F802fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			17	2420_2421	-			802					B4DK33|B4DWC3|Q86VZ7	Frame_Shift_Ins	INS	ENST00000355661.3	37	c.2405_2406insT	CCDS31434.1																																																																																				0.446	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		10	464	NA	NA	NA	NA	NA	10	464	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																							uc001mvs.2		NA																	0					0						c.(604-606)GAAfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs					APIP_uc010reo.1_Frame_Shift_Ins_p.E219fs	p.E202fs	NM_015957	NP_057041	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	712_713	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		8	621	NA	NA	NA	NA	NA	8	621	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35313880	35313881	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:35313880_35313881insA	ENST00000278379.3	-	7	1326_1327	c.1044_1045insT	c.(1042-1047)tttgctfs	p.A349fs	SLC1A2_ENST00000395753.1_Frame_Shift_Ins_p.A340fs|SLC1A2_ENST00000606205.1_Frame_Shift_Ins_p.A349fs|SLC1A2_ENST00000395750.1_Frame_Shift_Ins_p.A340fs	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	349					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			AAAATGCCAGCAAAAAAGGAGA	0.47																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1042-1047)TTTGCTfs		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313880_35313881insA	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1045dupT	11.37:g.35313886_35313886dupA	ENSP00000278379:p.Ala349fs					SLC1A2_uc001mwe.2_Frame_Shift_Ins_p.F339fs|SLC1A2_uc010rev.1_Frame_Shift_Ins_p.F348fs	p.F348fs	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1636_1637	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	348_349					B4DQE9|Q14417|Q541G6|U3KQQ4	Frame_Shift_Ins	INS	ENST00000278379.3	37	c.1044_1045insT	CCDS31459.1																																																																																				0.470	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		7	980	NA	NA	NA	NA	NA	7	980	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																							uc001mwg.2		NA																	0				ovary(2)	2						c.(301-303)GGTfs		regeneration associated muscle protease isoform																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_uc001mwf.2_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rew.1_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rex.1_Frame_Shift_Ins_p.G61fs	p.G101fs	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			3	345_346	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		30	1074	NA	NA	NA	NA	NA	30	1074	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47776187	47776187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:47776187delC	ENST00000263773.5	-	3	355	c.343delG	c.(343-345)gacfs	p.D115fs	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	115						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCATCACTGTCAGCATAAGCA	0.383																																							uc009ylv.2		NA																	0				ovary(1)	1						c.(343-345)GACfs		formin binding protein 4							204.0	195.0	198.0					11																	47776187		2105	4235	6340	SO:0001589	frameshift_variant	23360							g.chr11:47776187delC	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.343delG	11.37:g.47776187delC	ENSP00000263773:p.Asp115fs					FNBP4_uc001ngj.2_Frame_Shift_Del_p.D22fs|FNBP4_uc001ngl.2_Intron	p.D115fs	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			3	496	-			115					Q9H985|Q9NT81|Q9Y2L7	Frame_Shift_Del	DEL	ENST00000263773.5	37	c.343delG	CCDS41644.1																																																																																				0.383	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			103	298	NA	NA	NA	NA	NA	103	298	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																							uc001nkg.2		NA																	0				central_nervous_system(1)	1						c.(655-660)CCCAACfs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs					PRG2_uc001nke.2_Frame_Shift_Ins_p.P118fs|SLC43A3_uc001nkh.2_Frame_Shift_Ins_p.P219fs|SLC43A3_uc010rjr.1_Frame_Shift_Ins_p.P232fs|SLC43A3_uc009yme.2_Frame_Shift_Ins_p.P219fs|SLC43A3_uc001nki.2_Frame_Shift_Ins_p.P219fs|SLC43A3_uc009ymf.1_Frame_Shift_Ins_p.P219fs|SLC43A3_uc010rjs.1_Frame_Shift_Ins_p.P219fs|SLC43A3_uc009ymg.1_Frame_Shift_Ins_p.P232fs	p.P219fs	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			8	1067_1068	-			219_220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		9	230	NA	NA	NA	NA	NA	9	230	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245351	59245352	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:59245351_59245352insG	ENST00000530162.1	+	1	506_507	c.449_450insG	c.(448-453)ttggggfs	p.LG150fs		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGCCTGGTTGGGGGGCTTTG	0.54																																							uc001nnz.1		NA																	0				ovary(2)|skin(1)	3						c.(448-450)TTGfs		olfactory receptor, family 4, subfamily D,																																				SO:0001589	frameshift_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245351_59245352insG	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.455dupG	11.37:g.59245357_59245357dupG	ENSP00000436424:p.Leu150fs						p.L150fs	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	449_450	+			150			Helical; Name=4; (Potential).		B2RNH6	Frame_Shift_Ins	INS	ENST00000530162.1	37	c.449_450insG	CCDS53636.1																																																																																				0.540	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		7	268	NA	NA	NA	NA	NA	7	268	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																							uc001nrq.2		NA																	0				central_nervous_system(1)	1						c.(655-660)CCCAGTfs		pre-mRNA cleavage factor I, 59 kDa subunit																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs					CPSF7_uc001nro.2_Frame_Shift_Ins_p.P210fs|CPSF7_uc001nrp.2_Frame_Shift_Ins_p.P262fs|CPSF7_uc001nrr.2_Frame_Shift_Ins_p.P210fs|CPSF7_uc001nrs.1_Frame_Shift_Ins_p.P120fs	p.P219fs	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			6	791_792	-			219_220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.657_658insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	468	NA	NA	NA	NA	NA	8	468	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2044-2046)cccfs	p.P682fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.P682fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	682					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554																																							uc001opo.2		NA																	0				lung(2)|ovary(1)	3						c.(2041-2046)ATTCCCfs		PTPRF interacting protein alpha 1 isoform b																																				SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194406_70194407insC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2049dupC	11.37:g.70194412_70194412dupC	ENSP00000253925:p.Pro682fs					PPFIA1_uc001opn.1_Frame_Shift_Ins_p.I681fs|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.I681fs	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2241_2242	+			681_682					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Ins	INS	ENST00000253925.7	37	c.2043_2044insC	CCDS31627.1																																																																																				0.554	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		7	470	NA	NA	NA	NA	NA	7	470	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1620)atccccfs	p.IP539fs	MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP528fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564																																							uc001oyb.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(3)|breast(1)	4						c.(1615-1617)ATCfs		myosin VIIA isoform 1																																				SO:0001589	frameshift_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873960_76873961insC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1623dupC	11.37:g.76873967_76873967dupC	ENSP00000386331:p.Ile539fs					MYO7A_uc010rsl.1_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs	p.I539fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			14	1888_1889	+			539			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	ENST00000409709.3	37	c.1616_1617insC	CCDS53683.1																																																																																				0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		9	232	NA	NA	NA	NA	NA	9	232	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:88258517_88258518insG	ENST00000305447.4	-	8	2834_2835	c.2685_2686insC	c.(2683-2688)cccaaafs	p.K896fs	GRM5_ENST00000455756.2_Intron|GRM5_ENST00000418177.2_Frame_Shift_Ins_p.K896fs|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Splice_Site	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATACTCCCTTTGGGGGTGAAAC	0.485																																							uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2683-2688)CCCAAAfs		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)																																			SO:0001589	frameshift_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88258517_88258518insG	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2686dupC	11.37:g.88258522_88258522dupG	ENSP00000306138:p.Lys896fs					GRM5_uc009yvm.2_Intron	p.P895fs	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			8	2885_2886	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	895_896			Cytoplasmic (Potential).		Q6J164	Frame_Shift_Ins	INS	ENST00000305447.4	37	c.2685_2686insC	CCDS44694.1																																																																																				0.485	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		11	1067	NA	NA	NA	NA	NA	11	1067	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2		NA																	0					0						c.(1411-1413)CCTfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs					RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Frame_Shift_Ins_p.P471fs|RDX_uc009yxz.2_Frame_Shift_Ins_p.P124fs|RDX_uc009yya.2_Intron|RDX_uc001pks.2_Frame_Shift_Ins_p.P5fs|RDX_uc001pkt.2_Frame_Shift_Ins_p.P125fs|RDX_uc010rwe.1_Frame_Shift_Ins_p.P335fs	p.P471fs	NM_002906	NP_002897	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1722_1723	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Poly-Pro.|Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		20	677	NA	NA	NA	NA	NA	20	677	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																							uc009yyq.1		NA																	0				ovary(1)	1						c.(232-234)CGGfs		neural cell adhesion molecule 1 isoform 3																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs					NCAM1_uc001pno.2_Frame_Shift_Ins_p.R78fs	p.R78fs	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	5	926_927	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.232_233insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		20	1557	NA	NA	NA	NA	NA	20	1557	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:116733010_116733011insC	ENST00000292055.4	-	16	1853_1854	c.1818_1819insG	c.(1816-1821)gggcagfs	p.Q607fs	SIK3_ENST00000434315.2_Frame_Shift_Ins_p.Q506fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.Q607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.G38fs|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5																																							uc001ppy.2		NA																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(1816-1821)GGGCAGfs		serine/threonine-protein kinase QSK																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733010_116733011insC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1819dupG	11.37:g.116733016_116733016dupC	ENSP00000292055:p.Gln607fs					SIK3_uc001ppz.2_Frame_Shift_Ins_p.G505fs|SIK3_uc001pqa.2_Frame_Shift_Ins_p.G606fs|SIK3_uc001ppw.2_Frame_Shift_Ins_p.G23fs|SIK3_uc001ppx.2_Frame_Shift_Ins_p.G81fs|SIK3_uc001pqb.2_5'Flank	p.G606fs	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			16	1854_1855	-			606_607			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1818_1819insG	CCDS8379.1																																																																																				0.500	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		8	452	NA	NA	NA	NA	NA	8	452	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117321331	117321332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:117321331_117321332insG	ENST00000321322.6	-	20	3822_3823	c.3821_3822insC	c.(3820-3822)cctfs	p.P1274fs	DSCAML1_ENST00000527706.1_Frame_Shift_Ins_p.P1004fs	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1214	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGCTTGGTAGGGGGGAGCCA	0.589																																							uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3820-3822)CCTfs		Down syndrome cell adhesion molecule like 1																																				SO:0001589	frameshift_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117321331_117321332insG		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3822dupC	11.37:g.117321337_117321337dupG	ENSP00000315465:p.Pro1274fs						p.P1274fs	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	20	3823_3824	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1214			Extracellular (Potential).|Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Frame_Shift_Ins	INS	ENST00000321322.6	37	c.3821_3822insC	CCDS8384.1																																																																																				0.589	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		10	385	NA	NA	NA	NA	NA	10	385	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																							uc010rze.1		NA																	0					0						c.(598-600)CCTfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs						p.P200fs	NM_001145018	NP_001138490	Q494R4	CC153_HUMAN			7	687_688	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		12	224	NA	NA	NA	NA	NA	12	224	---	---	---	---
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(739-741)gggfs	p.G247fs	JAM3_ENST00000529443.2_Frame_Shift_Ins_p.G292fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.G196fs|NCAPD3_ENST00000526787.2_5'Flank			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	247					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485																																							uc001qhb.1		NA																	0				ovary(1)	1						c.(871-876)ATTGGGfs		junctional adhesion molecule 3 precursor																																				SO:0001589	frameshift_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134018467_134018468insG	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.745dupG	11.37:g.134018474_134018474dupG	ENSP00000299106:p.Gly247fs					JAM3_uc009zcz.1_Frame_Shift_Ins_p.I240fs	p.I291fs	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	7	897_898	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	246_247			Helical; (Potential).		B3KWG9|Q8WWL8|Q96FL1	Frame_Shift_Ins	INS	ENST00000299106.4	37	c.873_874insG	CCDS8494.2																																																																																				0.485	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		12	337	NA	NA	NA	NA	NA	12	337	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gagfs	p.E499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.E499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML																																		uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(1495-1497)GAGfs		retinoblastoma binding protein 2 isoform 1																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:442810_442811insC		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1496dupG	12.37:g.442816_442816dupC	ENSP00000382688:p.Glu499fs					KDM5A_uc001qie.1_Frame_Shift_Ins_p.E499fs|KDM5A_uc010sdn.1_Frame_Shift_Ins_p.E458fs|KDM5A_uc010sdo.1_Frame_Shift_Ins_p.E118fs	p.E499fs	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			12	1858_1859	-			499			JmjC.		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.1495_1496insG	CCDS41736.1																																																																																				0.465	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		7	565	NA	NA	NA	NA	NA	7	565	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																							uc001qnn.1		NA																	1	Substitution - coding silent(1)		kidney(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)CCGfs		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs					VWF_uc010set.1_Intron	p.P2377fs	NM_000552	NP_000543	P04275	VWF_HUMAN			42	7380_7381	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	194	NA	NA	NA	NA	NA	7	194	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7288059	7288060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:7288059_7288060insC	ENST00000266546.6	+	4	970_971	c.520_521insC	c.(520-522)tccfs	p.S174fs	CLSTN3_ENST00000537408.1_Frame_Shift_Ins_p.S186fs	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGGTGACTGCTCCCCCCAGTAC	0.574																																							uc001qsr.2		NA																	0				large_intestine(1)	1						c.(520-522)TCCfs		calsyntenin 3 precursor																																				SO:0001589	frameshift_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288059_7288060insC	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.526dupC	12.37:g.7288065_7288065dupC	ENSP00000266546:p.Ser174fs					CLSTN3_uc001qss.2_Frame_Shift_Ins_p.S186fs	p.S174fs	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			4	798_799	+			174			Extracellular (Potential).|Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Frame_Shift_Ins	INS	ENST00000266546.6	37	c.520_521insC	CCDS8575.1																																																																																				0.574	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		7	880	NA	NA	NA	NA	NA	7	880	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)tcgfs	p.S654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.S163fs	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525																																							uc001quz.3		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|skin(1)	3						c.(1960-1962)TCGfs		alpha-2-macroglobulin-like 1 precursor																																				SO:0001589	frameshift_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9001442_9001443insC	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1961dupC	12.37:g.9001443_9001443dupC	ENSP00000299698:p.Ser654fs					A2ML1_uc001qva.1_Frame_Shift_Ins_p.S234fs|A2ML1_uc010sgm.1_Frame_Shift_Ins_p.S154fs	p.S654fs	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			16	2058_2059	+			498						Frame_Shift_Ins	INS	ENST00000299698.7	37	c.1960_1961insC	CCDS8596.2																																																																																				0.525	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		7	1893	NA	NA	NA	NA	NA	7	1893	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																							uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(97-102)CCCAGCfs		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs						p.P33fs	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	278_279	-			33_34			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	176	NA	NA	NA	NA	NA	9	176	---	---	---	---
RERG	85004	broad.mit.edu	37	12	15262411	15262412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:15262411_15262412insC	ENST00000256953.2	-	5	568_569	c.232_233insG	c.(232-234)gaafs	p.E78fs	RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000546331.1_Frame_Shift_Ins_p.E59fs|RERG_ENST00000536465.1_Frame_Shift_Ins_p.E78fs|RERG_ENST00000538313.1_Frame_Shift_Ins_p.E78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	78					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACAAAGCCTTCCCCCCATCGC	0.46																																							uc001rcs.2		NA																	0				lung(1)	1						c.(232-234)GAAfs		RAS-like, estrogen-regulated, growth inhibitor																																				SO:0001589	frameshift_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262411_15262412insC	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.233dupG	12.37:g.15262417_15262417dupC	ENSP00000256953:p.Glu78fs					RERG_uc001rct.2_Frame_Shift_Ins_p.E78fs|RERG_uc010shu.1_Frame_Shift_Ins_p.E59fs	p.E78fs	NM_032918	NP_116307	Q96A58	RERG_HUMAN			4	372_373	-			78					B2R9R0|B4DI02	Frame_Shift_Ins	INS	ENST00000256953.2	37	c.232_233insG	CCDS8673.1																																																																																				0.460	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		8	1090	NA	NA	NA	NA	NA	8	1090	---	---	---	---
C12orf10	60314	broad.mit.edu	37	12	53693998	53693999	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:53693998_53693999insG	ENST00000267103.5	+	2	333_334	c.281_282insG	c.(280-285)gtggggfs	p.VG94fs	C12orf10_ENST00000549488.1_5'UTR|C12orf10_ENST00000548632.1_Frame_Shift_Ins_p.VG70fs|RP11-680A11.5_ENST00000550263.1_RNA	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	94					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTGGTGGACGTGGGGGGCGAGT	0.559											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001scp.3		NA																	0				ovary(2)	2						c.(280-282)GTGfs		MYG1 protein precursor																																				SO:0001589	frameshift_variant	60314							g.chr12:53693998_53693999insG	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.287dupG	12.37:g.53694004_53694004dupG	ENSP00000267103:p.Val94fs		OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	C12orf10_uc010sof.1_Frame_Shift_Ins_p.V94fs|C12orf10_uc009zmx.2_Frame_Shift_Ins_p.V94fs|C12orf10_uc001scq.3_5'UTR	p.V94fs	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN			2	333_334	+			94						Frame_Shift_Ins	INS	ENST00000267103.5	37	c.281_282insG	CCDS31810.1																																																																																				0.559	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		7	151	NA	NA	NA	NA	NA	7	151	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)cccgacfs	p.D37fs	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.D37fs|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653																																							uc001scr.3		NA																	0				ovary(1)	1						c.(106-111)CCCGACfs		achalasia, adrenocortical insufficiency,																																				SO:0001589	frameshift_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715141_53715142insG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.109dupC	12.37:g.53715147_53715147dupG	ENSP00000209873:p.Asp37fs					AAAS_uc001scs.3_Frame_Shift_Ins_p.P36fs	p.P36fs	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			1	271_272	-			36_37					Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	c.108_109insC	CCDS8856.1																																																																																				0.653	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			8	76	NA	NA	NA	NA	NA	8	76	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGAAGAAGAGGCCCCCCCATCC	0.559																																							uc001sgd.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1558-1560)GCCfs		phosphodiesterase 1B isoform 1																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971059_54971060insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs					PDE1B_uc010soz.1_Frame_Shift_Ins_p.A383fs|PDE1B_uc010spa.1_Frame_Shift_Ins_p.A479fs|PDE1B_uc001sgf.2_Frame_Shift_Ins_p.A383fs|PDE1B_uc001sge.2_Frame_Shift_Ins_p.A500fs|PDE1B_uc009znq.2_Frame_Shift_Ins_p.A316fs	p.A520fs	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			15	1724_1725	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			14	336	NA	NA	NA	NA	NA	14	336	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																							uc001sij.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2167-2172)CCACCCfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs					DGKA_uc001sik.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sil.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sim.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sin.2_Frame_Shift_Ins_p.P723fs|DGKA_uc009zof.2_Frame_Shift_Ins_p.P369fs|DGKA_uc001sio.2_Frame_Shift_Ins_p.P465fs	p.P723fs	NM_001345	NP_001336	P23743	DGKA_HUMAN			24	2433_2434	+			723_724					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			10	340	NA	NA	NA	NA	NA	10	340	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(814-816)TGGfs		GLI family zinc finger 1 isoform 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs					GLI1_uc009zpq.2_Frame_Shift_Ins_p.W144fs	p.W272fs	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	892_893	+			272			C2H2-type 2.		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		16	335	NA	NA	NA	NA	NA	16	335	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59282620	59282621	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:59282620_59282621insC	ENST00000320743.3	-	6	1069_1070	c.783_784insG	c.(781-786)gggctgfs	p.L262fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.L202fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	262					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATGTTGCTCAGCCCCCAAAAAG	0.411			T	ROS1	NSCLC																																		uc001sqr.2		NA		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(781-786)GGGCTGfs		leucine-rich repeats and immunoglobulin-like																																				SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59282620_59282621insC	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.784dupG	12.37:g.59282625_59282625dupC	ENSP00000326759:p.Leu262fs					LRIG3_uc009zqh.2_Frame_Shift_Ins_p.G201fs|LRIG3_uc010ssh.1_RNA	p.G261fs	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		6	1029_1030	-			261_262					Q6UXL7|Q8NC72	Frame_Shift_Ins	INS	ENST00000320743.3	37	c.783_784insG	CCDS8960.1																																																																																				0.411	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		7	370	NA	NA	NA	NA	NA	7	370	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				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)			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)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																		uc001sui.2		NA		Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			sarcoma|glioma|colorectal|other		0				lung(2)|central_nervous_system(1)	3						c.(952-957)AATCCCfs		mouse double minute 2 homolog isoform MDM2																																				SO:0001589	frameshift_variant	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.chr12:69233089_69233090insC		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.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs					MDM2_uc009zri.2_Frame_Shift_Ins_p.N273fs|MDM2_uc009zqx.2_Frame_Shift_Ins_p.N263fs|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Frame_Shift_Ins_p.N137fs|MDM2_uc009zqz.2_Frame_Shift_Ins_p.N265fs|MDM2_uc009zra.2_Frame_Shift_Ins_p.N116fs|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Frame_Shift_Ins_p.N2fs|MDM2_uc009zrc.2_Frame_Shift_Ins_p.N2fs|MDM2_uc009zre.2_Frame_Shift_Ins_p.N59fs|MDM2_uc009zrf.2_Frame_Shift_Ins_p.N2fs|MDM2_uc001suo.2_Frame_Shift_Ins_p.N112fs|MDM2_uc009zrg.2_Frame_Shift_Ins_p.N34fs|MDM2_uc009zrh.2_Frame_Shift_Ins_p.N86fs	p.N318fs	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)		11	1241_1242	+	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)		312_313			RanBP2-type.|Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		15	520	NA	NA	NA	NA	NA	15	520	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						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						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1192-1194)CGCfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	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.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)				NAV3_uc001syo.2_Frame_Shift_Ins_p.R398fs	p.R398fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	339	NA	NA	NA	NA	NA	11	339	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81741386	81741387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:81741386_81741387insG	ENST00000549396.1	-	18	2317_2318	c.2157_2158insC	c.(2155-2160)cccagtfs	p.S720fs	PPFIA2_ENST00000333447.7_Frame_Shift_Ins_p.S702fs|PPFIA2_ENST00000541570.2_Frame_Shift_Ins_p.S287fs|PPFIA2_ENST00000407050.4_Frame_Shift_Ins_p.S646fs|PPFIA2_ENST00000548586.1_Frame_Shift_Ins_p.S720fs|PPFIA2_ENST00000549325.1_Frame_Shift_Ins_p.S702fs|PPFIA2_ENST00000552948.1_Frame_Shift_Ins_p.S720fs|PPFIA2_ENST00000443686.3_Frame_Shift_Ins_p.S621fs|PPFIA2_ENST00000550584.2_Frame_Shift_Ins_p.S720fs|PPFIA2_ENST00000550359.2_Frame_Shift_Ins_p.S567fs|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	720					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGTGTCCACTGGGGGGAGATG	0.55																																							uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2155-2160)CCCAGTfs		PTPRF interacting protein alpha 2																																				SO:0001589	frameshift_variant	8499							g.chr12:81741386_81741387insG	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2158dupC	12.37:g.81741392_81741392dupG	ENSP00000450337:p.Ser720fs					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	p.P719fs	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2318_2319	-			645_646					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Frame_Shift_Ins	INS	ENST00000549396.1	37	c.2157_2158insC	CCDS55857.1																																																																																				0.550	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			16	472	NA	NA	NA	NA	NA	16	472	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																							uc001tgq.2		NA																	0				ovary(2)	2						c.(3214-3216)CCAfs		UHRF1 (ICBP90) binding protein 1-like isoform a																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs					UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.P722fs	p.P1072fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	3444_3445	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		12	408	NA	NA	NA	NA	NA	12	408	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104126791	104126792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:104126791_104126792insT	ENST00000388887.2	+	51	5495_5496	c.5291_5292insT	c.(5290-5295)ggtttgfs	p.L1765fs		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGACTCAGGTTTGCTGAGTG	0.569																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(5290-5292)GGTfs		stabilin 2 precursor																																				SO:0001589	frameshift_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104126791_104126792insT	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5294dupT	12.37:g.104126794_104126794dupT	ENSP00000373539:p.Leu1765fs					STAB2_uc009zug.2_RNA	p.G1764fs	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			51	5477_5478	+			1764			Extracellular (Potential).|FAS1 6.			Frame_Shift_Ins	INS	ENST00000388887.2	37	c.5291_5292insT	CCDS31888.1																																																																																				0.569	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			154	263	NA	NA	NA	NA	NA	154	263	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																							uc001tvc.2		NA																	0				central_nervous_system(1)	1						c.e7-1		solute carrier family 24 member 6 precursor				0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG						SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_Splice_Site|SLC24A6_uc001tvb.2_Intron	p.G176_splice	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			7	737	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37	c.527_splice	CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	7	530	NA	NA	NA	NA	NA	7	530	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																							uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1519-1521)CTCfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs						p.L507fs	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			10	1574_1575	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536			Pro-rich.		A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		9	135	NA	NA	NA	NA	NA	9	135	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																							uc001tye.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(343-348)GGGCTGfs		musashi 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs						p.G115fs	NM_002442	NP_002433	O43347	MSI1H_HUMAN			6	409_410	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		115_116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		7	117	NA	NA	NA	NA	NA	7	117	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2089-2094)CCCTTGfs	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Ins_p.P670fs	p.P697fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2135_2136	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	697_698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	140	NA	NA	NA	NA	NA	8	140	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																							uc001uxu.1		NA																	0				ovary(1)|skin(1)	2						c.(1324-1329)GGGCGAfs		kelch repeat and BTB (POZ) domain-containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Frame_Shift_Ins_p.G376fs|uc001uxv.1_5'Flank	p.G442fs	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1615_1616	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	442_443			Kelch 2.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		21	377	NA	NA	NA	NA	NA	21	377	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.P39fs			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	39					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|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)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411																																							uc010aft.2		NA																	0					0						c.(112-117)CATCCCfs		muscleblind-like 2 isoform 1																																				SO:0001589	frameshift_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928603_97928604insC	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.120dupC	13.37:g.97928609_97928609dupC	ENSP00000365861:p.Pro39fs					MBNL2_uc001vmz.2_Frame_Shift_Ins_p.H38fs|MBNL2_uc001vna.2_Frame_Shift_Ins_p.H38fs|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Frame_Shift_Ins_p.H38fs	p.H38fs	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	930_931	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		38_39			C3H1-type 1.		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Frame_Shift_Ins	INS	ENST00000376673.3	37	c.114_115insC																																																																																					0.411	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		7	375	NA	NA	NA	NA	NA	7	375	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																							uc001wao.2		NA																	0					0						c.(3124-3129)CCCAAGfs		chromatin-specific transcription elongation																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs					SUPT16H_uc001wan.2_Frame_Shift_Ins_p.P186fs	p.P1042fs	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3465_3466	-	all_cancers(95;0.00115)		1042_1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			10	612	NA	NA	NA	NA	NA	10	612	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719). {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.5																																							uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1339-1341)CCTfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549377_23549378insG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1341dupC	14.37:g.23549378_23549378dupG	ENSP00000262710:p.Ala447fs					ACIN1_uc001wis.3_Frame_Shift_Ins_p.A129fs|ACIN1_uc010akg.2_Frame_Shift_Ins_p.A447fs|ACIN1_uc010tnj.1_Frame_Shift_Ins_p.A407fs	p.P447fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1668_1669	-	all_cancers(95;1.36e-05)		447					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1340_1341insC	CCDS9587.1																																																																																				0.500	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		8	181	NA	NA	NA	NA	NA	8	181	---	---	---	---
SLC7A8	23428	broad.mit.edu	37	14	23608664	23608665	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:23608664_23608665insG	ENST00000316902.7	-	6	1605_1606	c.880_881insC	c.(880-882)cagfs	p.Q294fs	SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Frame_Shift_Ins_p.Q70fs|SLC7A8_ENST00000453702.1_Frame_Shift_Ins_p.Q91fs|SLC7A8_ENST00000529705.2_Frame_Shift_Ins_p.Q189fs	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	294					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAGCAGCTCCTGGGGGGACATT	0.52																																							uc001wiz.2		NA																	0				ovary(1)	1						c.(880-882)CAGfs		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)																																			SO:0001589	frameshift_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23608664_23608665insG	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.881dupC	14.37:g.23608670_23608670dupG	ENSP00000320378:p.Gln294fs					SLC7A8_uc001wix.2_Frame_Shift_Ins_p.Q91fs|SLC7A8_uc010tnk.1_Frame_Shift_Ins_p.Q70fs|SLC7A8_uc010tnl.1_Frame_Shift_Ins_p.Q189fs|SLC7A8_uc001wiy.2_Intron|SLC7A8_uc010akj.2_Intron	p.Q294fs	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	6	1606_1607	-	all_cancers(95;4.6e-05)		294					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Frame_Shift_Ins	INS	ENST00000316902.7	37	c.880_881insC	CCDS9590.1																																																																																				0.520	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			7	471	NA	NA	NA	NA	NA	7	471	---	---	---	---
REC8	9985	broad.mit.edu	37	14	24642563	24642564	+	Frame_Shift_Ins	INS	-	-	T	rs148175635		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:24642563_24642564insT	ENST00000311457.3	+	6	1004_1005	c.405_406insT	c.(406-408)tttfs	p.F136fs	REC8_ENST00000559919.1_Frame_Shift_Ins_p.F136fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	136					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCCAGATCCCTTTTTTGGGAT	0.53																																					NSCLC(139;1764 2537 12868 49041)	NSCLC(139;1764 2537 12868 49041)	uc001wmr.2		NA																	0					0						c.(403-408)CCCTTTfs		REC8 homolog																																				SO:0001589	frameshift_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642563_24642564insT	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.411dupT	14.37:g.24642569_24642569dupT	ENSP00000308699:p.Phe136fs					REC8_uc001wms.2_Frame_Shift_Ins_p.P135fs	p.P135fs	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	832_833	+			135_136					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Frame_Shift_Ins	INS	ENST00000311457.3	37	c.405_406insT	CCDS41932.1																																																																																				0.530	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		7	267	NA	NA	NA	NA	NA	7	267	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(25-27)TCCfs		A-kinase anchor protein 6																																				SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902724_32902725insC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.31dupC	14.37:g.32902730_32902730dupC	ENSP00000280979:p.Ser9fs					AKAP6_uc010aml.2_Frame_Shift_Ins_p.S6fs	p.S9fs	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	195_196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Ins	INS	ENST00000280979.4	37	c.25_26insC	CCDS9644.1																																																																																				0.505	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		7	469	NA	NA	NA	NA	NA	7	469	---	---	---	---
SAMD4A	23034	broad.mit.edu	37	14	55203891	55203892	+	Frame_Shift_Ins	INS	-	-	C	rs545730881		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:55203891_55203892insC	ENST00000554335.1	+	4	1528_1529	c.865_866insC	c.(865-867)gccfs	p.A289fs	SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.A288fs|SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.A289fs|SAMD4A_ENST00000251091.5_Intron			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	289					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATCCGATCATGCCCCCCTGTCT	0.525																																							uc001xbb.2		NA																	0					0						c.(862-864)GCCfs		sterile alpha motif domain containing 4 isoform																																				SO:0001589	frameshift_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55203891_55203892insC	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.871dupC	14.37:g.55203897_55203897dupC	ENSP00000452535:p.Ala289fs					SAMD4A_uc001xbc.2_Intron	p.A288fs	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			3	863_864	+			289					A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Ins	INS	ENST00000554335.1	37	c.862_863insC	CCDS32084.2																																																																																				0.525	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		9	698	NA	NA	NA	NA	NA	9	698	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2890-2892)CAGfs		potassium voltage-gated channel, subfamily H,			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs					KCNH5_uc001xfy.2_3'UTR	p.Q964fs	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2941_2942	-			964			Cytoplasmic (Potential).		C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		16	458	NA	NA	NA	NA	NA	16	458	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81610521	81610522	+	Frame_Shift_Ins	INS	-	-	G	rs568577739|rs368452281		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:81610521_81610522insG	ENST00000541158.2	+	11	2441_2442	c.2119_2120insG	c.(2119-2121)cggfs	p.R707fs	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Frame_Shift_Ins_p.R707fs			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	707					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.R707W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCAGGCATACCGGGGGCAGAGG	0.49			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - Missense(1)		endometrium(1)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(2119-2121)CGGfs		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)																																			SO:0001589	frameshift_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610521_81610522insG	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2124dupG	14.37:g.81610526_81610526dupG	ENSP00000441235:p.Arg707fs						p.R707fs	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	2275_2276	+			707			Cytoplasmic (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Frame_Shift_Ins	INS	ENST00000541158.2	37	c.2119_2120insG	CCDS9872.1																																																																																				0.490	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		8	615	NA	NA	NA	NA	NA	8	615	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:88406276delT	ENST00000261304.2	-	16	1990	c.1884delA	c.(1882-1884)aaafs	p.K628fs	GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308																																							uc001xvt.2		NA																	0					0						c.(1882-1884)AAAfs		galactosylceramidase isoform a precursor							160.0	154.0	156.0					14																	88406276		1860	4117	5977	SO:0001589	frameshift_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88406276delT	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1884delA	14.37:g.88406276delT	ENSP00000261304:p.Lys628fs					GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Frame_Shift_Del_p.K602fs|GALC_uc010tvy.1_Frame_Shift_Del_p.K605fs|GALC_uc010tvz.1_Frame_Shift_Del_p.K572fs	p.K628fs	NM_000153	NP_000144	P54803	GALC_HUMAN			16	2283	-			628					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Frame_Shift_Del	DEL	ENST00000261304.2	37	c.1884delA	CCDS9878.2																																																																																				0.308	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			9	1005	NA	NA	NA	NA	NA	9	1005	---	---	---	---
IGHV7-27	28383	broad.mit.edu	37	14	106774086	106774087	+	IGR	INS	-	-	AGTAATACACGGCA	rs376590598		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:106774086_106774087insAGTAATACACGGCA								IGHV2-26 (15970 upstream) : IGHV4-28 (6425 downstream)																							GCCTCTTGCACGTGTCCTCAGC	0.55																																							uc010tyt.1		NA																	0					0						c.e430+1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:106774086_106774087insAGTAATACACGGCA																													14.37:g.106774086_106774087insAGTAATACACGGCA														430		-									Splice_Site	INS		37	c.15674_splice																																																																																				0	0.550									7	41	NA	NA	NA	NA	NA	7	41	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002						uc010tzu.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(448-450)AGGfs		olfactory receptor, family 4, subfamily M,																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.R150fs	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	448_449	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150			Helical; Name=4; (Potential).		B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			32	754	NA	NA	NA	NA	NA	32	754	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33357207	33357208	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:33357207_33357208insG	ENST00000559047.1	-	3	2110_2111	c.2111_2112insC	c.(2110-2112)ccafs	p.P704fs	FMN1_ENST00000334528.9_Frame_Shift_Ins_p.P481fs|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Frame_Shift_Ins_p.P481fs|FMN1_ENST00000559150.1_5'UTR			Q68DA7	FMN1_HUMAN	formin 1	704	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTTTTGTCTTTGGGGGTGGCCA	0.495																																							uc001zhf.3		NA																	0				ovary(1)	1						c.(1441-1443)CCAfs		formin 1																																				SO:0001589	frameshift_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33357207_33357208insG	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2112dupC	15.37:g.33357212_33357212dupG	ENSP00000454047:p.Pro704fs					FMN1_uc001zhg.2_Frame_Shift_Ins_p.P481fs	p.P481fs	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	2	1442_1443	-		all_lung(180;1.14e-07)	704			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Ins	INS	ENST00000559047.1	37	c.1442_1443insC																																																																																					0.495	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		7	749	NA	NA	NA	NA	NA	7	749	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6708)gaggggfs	p.EG2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.EG2235fs|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	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)			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)		CTGCGGGGTGAGGGGGGAAACG	0.584																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6703-6705)GAGfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015000_34015001insG		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.6710dupG	15.37:g.34015006_34015006dupG	ENSP00000373884:p.Glu2235fs					RYR3_uc010bar.2_Frame_Shift_Ins_p.E2235fs	p.E2235fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6774_6775	+		all_lung(180;7.18e-09)	2235			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.6704_6705insG	CCDS45210.1																																																																																				0.584	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	243	NA	NA	NA	NA	NA	7	243	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9460-9462)cccfs	p.P3154fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P3154fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3154					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)			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)		CTGAGAACCTGCCCCCCAGCAC	0.564																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9457-9462)CTGCCCfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078053_34078054insC		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.9465dupC	15.37:g.34078059_34078059dupC	ENSP00000373884:p.Pro3154fs					RYR3_uc010bar.2_Frame_Shift_Ins_p.L3153fs	p.L3153fs	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)	66	9529_9530	+		all_lung(180;7.18e-09)	3153_3154					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.9459_9460insC	CCDS45210.1																																																																																				0.564	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	345	NA	NA	NA	NA	NA	9	345	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40477505	40477506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:40477505_40477506insC	ENST00000287598.6	+	7	1086_1087	c.891_892insC	c.(892-894)cccfs	p.P298fs	BUB1B_ENST00000412359.3_Frame_Shift_Ins_p.P312fs	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	298					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATGGATAGCACCCCCCATGCC	0.475			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														uc001zkx.3		NA	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(889-894)GCACCCfs		budding uninhibited by benzimidazoles 1 beta																																				SO:0001589	frameshift_variant	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40477505_40477506insC	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.897dupC	15.37:g.40477511_40477511dupC	ENSP00000287598:p.Pro298fs					BUB1B_uc010ucl.1_Frame_Shift_Ins_p.A160fs	p.A297fs	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	7	1103_1104	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	297_298					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Frame_Shift_Ins	INS	ENST00000287598.6	37	c.891_892insC	CCDS10053.1																																																																																				0.475	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			8	566	NA	NA	NA	NA	NA	8	566	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001zlh.3		NA																	0				large_intestine(1)	1						c.(607-612)CCCACGfs		hypothetical protein LOC388115																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	C15orf52_uc001zli.1_Frame_Shift_Ins_p.P135fs|C15orf52_uc010ucn.1_5'Flank	p.P203fs	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	625_626	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	203_204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		7	91	NA	NA	NA	NA	NA	7	91	---	---	---	---
RTF1	23168	broad.mit.edu	37	15	41762468	41762469	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:41762468_41762469insA	ENST00000389629.4	+	7	915_916	c.903_904insA	c.(904-906)aaafs	p.K302fs		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	302	Glu-rich.|Lys-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGCTCCTTGCCAAAAAACAGCC	0.406																																							uc001zny.2		NA																	0				ovary(2)	2						c.(901-906)GCCAAAfs		Paf1/RNA polymerase II complex component																																				SO:0001589	frameshift_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41762468_41762469insA	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.909dupA	15.37:g.41762474_41762474dupA	ENSP00000374280:p.Lys302fs						p.A301fs	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	7	915_916	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	301_302			Lys-rich.|Glu-rich.		Q96BX6	Frame_Shift_Ins	INS	ENST00000389629.4	37	c.903_904insA	CCDS32200.2																																																																																				0.406	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		10	304	NA	NA	NA	NA	NA	10	304	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43075687	43075688	+	Frame_Shift_Ins	INS	-	-	G	rs368815985		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:43075687_43075688insG	ENST00000267890.6	-	11	1234_1235	c.1126_1127insC	c.(1126-1128)cgtfs	p.R376fs	TTBK2_ENST00000567274.1_Frame_Shift_Ins_p.R341fs|TTBK2_ENST00000567840.1_Frame_Shift_Ins_p.R376fs	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	376					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R376S(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTCCTGGGGACGGGGGTGTCCC	0.431																																							uc001zqo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(1126-1128)CGTfs		tau tubulin kinase 2																																				SO:0001589	frameshift_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43075687_43075688insG	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1127dupC	15.37:g.43075692_43075692dupG	ENSP00000267890:p.Arg376fs					TTBK2_uc010bcy.2_Frame_Shift_Ins_p.R307fs|TTBK2_uc001zqp.2_Frame_Shift_Ins_p.R376fs|TTBK2_uc010bcz.1_Frame_Shift_Ins_p.R341fs	p.R376fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	11	1565_1566	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	376					O94932|Q6ZN52|Q8IVV1	Frame_Shift_Ins	INS	ENST00000267890.6	37	c.1126_1127insC	CCDS42029.1																																																																																				0.431	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		7	1139	NA	NA	NA	NA	NA	7	1139	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53908070	53908071	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:53908070_53908071insT	ENST00000396328.1	-	15	2571_2572	c.2332_2333insA	c.(2332-2334)atgfs	p.M778fs	WDR72_ENST00000360509.5_Frame_Shift_Ins_p.M778fs|WDR72_ENST00000559418.1_Frame_Shift_Ins_p.M788fs|WDR72_ENST00000557913.1_Frame_Shift_Ins_p.M775fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	778										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTAGGCTGCATTTTTTTGGAG	0.391																																							uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(2332-2334)ATGfs		WD repeat domain 72																																				SO:0001589	frameshift_variant	256764							g.chr15:53908070_53908071insT	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2333dupA	15.37:g.53908077_53908077dupT	ENSP00000379619:p.Met778fs					WDR72_uc010bfi.1_Frame_Shift_Ins_p.M778fs	p.M778fs	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2374_2375	-			778					Q7Z3I3|Q8N8X2	Frame_Shift_Ins	INS	ENST00000396328.1	37	c.2332_2333insA	CCDS10151.1																																																																																				0.391	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		9	1143	NA	NA	NA	NA	NA	9	1143	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																							uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(13153-13155)CAGfs		hect domain and RCC1-like domain 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63918305_63918306insG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs						p.Q4385fs	NM_003922	NP_003913	Q15751	HERC1_HUMAN			71	13301_13302	-			4385					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.13153_13154insC	CCDS45277.1																																																																																				0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	92	NA	NA	NA	NA	NA	7	92	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2941-2943)cccfs	p.P981fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	981						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.55																																							uc002ann.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2938-2943)GTACCCfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967993_64967994insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2946dupC	15.37:g.64967999_64967999dupC	ENSP00000316527:p.Pro981fs						p.V980fs	NM_015042	NP_055857	O15014	ZN609_HUMAN			4	2940_2941	+			980_981					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2940_2941insC	CCDS32270.1																																																																																				0.550	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		9	1149	NA	NA	NA	NA	NA	9	1149	---	---	---	---
GPR139	124274	broad.mit.edu	37	16	20043388	20043389	+	Frame_Shift_Ins	INS	-	-	G	rs140063049		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20043388_20043389insG	ENST00000570682.1	-	2	1030_1031	c.730_731insC	c.(730-732)cgcfs	p.R244fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545																																							uc002dgu.1		NA																	0				ovary(2)	2						c.(730-732)CGCfs		G protein-coupled receptor 139																																				SO:0001589	frameshift_variant	124274					integral to membrane|plasma membrane		g.chr16:20043388_20043389insG	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.731dupC	16.37:g.20043394_20043394dupG	ENSP00000458791:p.Arg244fs					GPR139_uc010vaw.1_Frame_Shift_Ins_p.R151fs	p.R244fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	892_893	-			244			Helical; Name=6; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Frame_Shift_Ins	INS	ENST00000570682.1	37	c.730_731insC	CCDS32398.1																																																																																				0.545	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		7	194	NA	NA	NA	NA	NA	7	194	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1204-1209)CTGCCCfs		acyl-CoA synthetase medium-chain family member																																				SO:0001589	frameshift_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489924_20489925insC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs					ACSM2A_uc010vax.1_Frame_Shift_Ins_p.L323fs|ACSM2A_uc002dhf.3_Frame_Shift_Ins_p.L402fs|ACSM2A_uc002dhg.3_Frame_Shift_Ins_p.L402fs|ACSM2A_uc010vay.1_Frame_Shift_Ins_p.L323fs|ACSM2A_uc002dhh.3_Frame_Shift_Ins_p.L32fs	p.L402fs	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			11	1445_1446	+			402_403					B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	c.1206_1207insC	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		12	379	NA	NA	NA	NA	NA	12	379	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																							uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1210-1215)CCCGGCfs		acyl-CoA synthetase medium-chain family member																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs					ACSM2B_uc002dhk.3_Frame_Shift_Ins_p.P404fs|ACSM2B_uc010bwf.1_Frame_Shift_Ins_p.P404fs	p.P404fs	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			11	1422_1423	-			404_405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		7	349	NA	NA	NA	NA	NA	7	349	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)cggfs	p.R1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.R1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTTT	0.569																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(4201-4203)CGGfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063027_21063028insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4202dupC	16.37:g.21063033_21063033dupG	ENSP00000261383:p.Arg1401fs						p.R1401fs	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4201_4202	-			1401			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.4201_4202insC	CCDS10594.1																																																																																				0.569	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	553	NA	NA	NA	NA	NA	14	553	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079851	23079852	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23079851_23079852insC	ENST00000219689.7	-	16	3573_3574	c.3574_3575insG	c.(3574-3576)gccfs	p.A1192fs	USP31_ENST00000567975.1_Frame_Shift_Ins_p.A485fs	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGCTTCCCGGCCCCCCTGCCC	0.644																																							uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(3574-3576)GCCfs		ubiquitin specific peptidase 31																																				SO:0001589	frameshift_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079851_23079852insC	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3575dupG	16.37:g.23079857_23079857dupC	ENSP00000219689:p.Ala1192fs					USP31_uc002dlk.2_Frame_Shift_Ins_p.A464fs|USP31_uc010vca.1_Frame_Shift_Ins_p.A495fs|USP31_uc010bxm.2_Frame_Shift_Ins_p.A480fs	p.A1192fs	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3574_3575	-			1192			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Ins	INS	ENST00000219689.7	37	c.3574_3575insG	CCDS10607.1																																																																																				0.644	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		7	151	NA	NA	NA	NA	NA	7	151	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24804889	24804890	+	Frame_Shift_Ins	INS	-	-	G	rs139796934		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24804889_24804890insG	ENST00000395799.3	+	7	3400_3401	c.3271_3272insG	c.(3271-3273)tggfs	p.W1091fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.W1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1091	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGTCCCAGCTGGGGGGAACCC	0.55																																							uc002dmm.2		NA																	0				ovary(2)	2						c.(3271-3273)TGGfs		trinucleotide repeat containing 6A																																				SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24804889_24804890insG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3277dupG	16.37:g.24804895_24804895dupG	ENSP00000379144:p.Trp1091fs					TNRC6A_uc010bxs.2_Frame_Shift_Ins_p.W838fs|TNRC6A_uc010vcc.1_Frame_Shift_Ins_p.W838fs|TNRC6A_uc002dmn.2_Frame_Shift_Ins_p.W838fs|TNRC6A_uc002dmo.2_Intron	p.W1091fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	7	3385_3386	+			1091			Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Ins	INS	ENST00000395799.3	37	c.3271_3272insG	CCDS10624.2																																																																																				0.550	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		8	487	NA	NA	NA	NA	NA	8	487	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)cccaatfs	p.N504fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.N390fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.N434fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																							uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(1507-1512)CCCAATfs		seizure related 6 homolog (mouse)-like 2 isoform																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Frame_Shift_Ins_p.P433fs|SEZ6L2_uc002dur.3_Frame_Shift_Ins_p.P433fs|SEZ6L2_uc002dus.3_Frame_Shift_Ins_p.P389fs|SEZ6L2_uc010vec.1_Frame_Shift_Ins_p.P503fs|SEZ6L2_uc010ved.1_Frame_Shift_Ins_p.P459fs	p.P503fs	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			9	1749_1750	-			503_504			Sushi 2.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	ENST00000308713.5	37	c.1509_1510insC	CCDS10659.1																																																																																				0.604	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		9	386	NA	NA	NA	NA	NA	9	386	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)aggfs	p.R498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629																																							uc002ebv.1		NA																	0				skin(1)	1						c.(1492-1494)AGGfs		integrin, alpha D precursor				1,4263		0,1,2131						-8.3	0.0			80	0,8250		0,0,4125	no	frameshift	ITGAD	NM_005353.2		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12513				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422532_31422533insG	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1497dupG	16.37:g.31422538_31422538dupG	ENSP00000373854:p.Arg498fs					ITGAD_uc010cap.1_Frame_Shift_Ins_p.R498fs	p.R498fs	NM_005353	NP_005344	Q13349	ITAD_HUMAN			13	1541_1542	+			498			Extracellular (Potential).|FG-GAP 5.		Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1492_1493insG	CCDS32438.1																																																																																				0.629	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		8	570	NA	NA	NA	NA	NA	8	570	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2299-2301)gggfs	p.G767fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	767	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.48																																							uc002ehi.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2296-2301)GTTGGGfs		retinoblastoma-like 2 (p130)																																				SO:0001589	frameshift_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504347_53504348insG	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2304dupG	16.37:g.53504353_53504353dupG	ENSP00000262133:p.Gly767fs					RBL2_uc002ehj.2_Frame_Shift_Ins_p.V476fs|RBL2_uc010vgw.1_Intron	p.V766fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN			16	2416_2417	+			766_767			Spacer.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Ins	INS	ENST00000262133.6	37	c.2298_2299insG	CCDS10748.1																																																																																				0.480	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		7	401	NA	NA	NA	NA	NA	7	401	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58577809	58577810	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:58577809_58577810insG	ENST00000317147.5	-	31	4470		c.e31-2		CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000245138.4_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAGGGAATCTGGGGGGTTGGG	0.46																																							uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.e31-1		CCR4-NOT transcription complex, subunit 1																																				SO:0001630	splice_region_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58577809_58577810insG	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4138-2->C	16.37:g.58577815_58577815dupG						CNOT1_uc002enw.2_Splice_Site|CNOT1_uc002enu.3_Splice_Site_p.I1375_splice|CNOT1_uc002enx.2_Intron|CNOT1_uc010vik.1_Splice_Site_p.I337_splice	p.I1380_splice	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	31	4431	-								Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Splice_Site	INS	ENST00000317147.5	37	c.4138_splice	CCDS10799.1																																																																																				0.460	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Intron	7	158	NA	NA	NA	NA	NA	7	158	---	---	---	---
NAE1	8883	broad.mit.edu	37	16	66839678	66839679	+	Splice_Site	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:66839678_66839679insC	ENST00000290810.3	-	19	1593		c.e19+1		NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000379463.2_Splice_Site|NAE1_ENST00000394074.2_Splice_Site			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATGGAACTCACCCCCCAAGAA	0.406																																							uc002eqf.2		NA																	0				ovary(1)	1						c.e19+1		NEDD8 activating enzyme E1 subunit 1 isoform a	Adenosine triphosphate(DB00171)																																			SO:0001630	splice_region_variant	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66839678_66839679insC	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1495+1->G	16.37:g.66839684_66839684dupC						NAE1_uc002eqe.2_Splice_Site_p.G493_splice|NAE1_uc002eqg.2_Splice_Site_p.G410_splice|NAE1_uc010cdv.2_Splice_Site_p.G502_splice	p.G499_splice	NM_003905	NP_003896	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	19	1572	-		Ovarian(137;0.0563)						A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Splice_Site	INS	ENST00000290810.3	37	c.1495_splice	CCDS10820.1																																																																																				0.406	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	Intron	7	212	NA	NA	NA	NA	NA	7	212	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72993508	72993509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:72993508_72993509insC	ENST00000268489.5	-	2	1208_1209	c.536_537insG	c.(535-537)ggcfs	p.G179fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	179					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCCCTTGCTTGCCCCCCGCGCC	0.639																																							uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(535-537)GGCfs		zinc finger homeobox 3 isoform A																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993508_72993509insC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.537dupG	16.37:g.72993514_72993514dupC	ENSP00000268489:p.Gly179fs					ZFHX3_uc002fcl.2_Intron	p.G179fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1209_1210	-		Ovarian(137;0.13)	179					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.536_537insG	CCDS10908.1																																																																																				0.639	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	33	NA	NA	NA	NA	NA	8	33	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gagfs	p.E447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.E436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.E447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447					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)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515																																							uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(1339-1341)GAGfs		golgi apparatus protein 1 isoform 3																																				SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74525008_74525009insC		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.1340dupG	16.37:g.74525014_74525014dupC	ENSP00000405984:p.Glu447fs					GLG1_uc002fcx.2_Frame_Shift_Ins_p.E447fs|GLG1_uc002fcw.3_Frame_Shift_Ins_p.E436fs|GLG1_uc002fcz.3_Intron	p.E447fs	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			8	1389_1390	-			447			Extracellular (Potential).|Cys-rich GLG1 6.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Ins	INS	ENST00000422840.2	37	c.1339_1340insG	CCDS45527.1																																																																																				0.515	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		9	283	NA	NA	NA	NA	NA	9	283	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74943495	74943496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:74943495_74943496insG	ENST00000262144.6	-	16	1675_1676	c.1545_1546insC	c.(1543-1548)cccttafs	p.PL515fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	515										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AACGTCGGTAAGGGGGGAGTGA	0.554																																							uc002fdh.1		NA																	0				ovary(1)|breast(1)	2						c.(1543-1548)CCCTTAfs		WD repeat domain 59																																				SO:0001589	frameshift_variant	79726							g.chr16:74943495_74943496insG	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1546dupC	16.37:g.74943501_74943501dupG	ENSP00000262144:p.Pro515fs					WDR59_uc002fdi.2_Frame_Shift_Ins_p.P515fs|WDR59_uc002fdg.1_Frame_Shift_Ins_p.P107fs	p.P515fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			16	1647_1648	-			515_516					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Frame_Shift_Ins	INS	ENST00000262144.6	37	c.1545_1546insC	CCDS32488.1																																																																																				0.554	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		9	451	NA	NA	NA	NA	NA	9	451	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tatccc>tac	p.P360del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	360					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453																																							uc002fet.1		NA																	0				central_nervous_system(1)	1						c.(1075-1080)TATCCC>TAC		telomeric repeat binding factor 2, interacting																																				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690386_75690388delTCC	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.1077_1079delTCC	16.37:g.75690386_75690388delTCC	ENSP00000300086:p.Pro360del						p.P360del	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN			3	1174_1176	+			360					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.1077_1079delTCC	CCDS32491.1																																																																																				0.453	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		9	387	NA	NA	NA	NA	NA	9	387	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																															uc002fto.2		NA																	0					0						c.(1081-1083)TGGfs	NER	replication protein A1																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs						p.W361fs	NM_002945	NP_002936	P27694	RFA1_HUMAN			11	1196_1197	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		7	857	NA	NA	NA	NA	NA	7	857	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-	rs587782423		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:7579470delC	ENST00000269305.4	-	4	406	c.217delG	c.(217-219)gtgfs	p.V73fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs	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	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	GCAGGGGCCACGGGGGGAGCA	0.602		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)	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		34	Insertion - Frameshift(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(5)|Deletion - In frame(1)|Complex - frameshift(1)	p.0?(7)|p.V73L(3)|p.G59fs*23(3)|p.V73fs*50(2)|p.V73fs*76(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.V73E(1)	upper_aerodigestive_tract(6)|lung(5)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|breast(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(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	GRCh37	CI920954	TP53	I		c.(217-219)GTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							81.0	89.0	86.0					17																	7579470		2202	4297	6499	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7579470delC	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.217delG	17.37:g.7579470delC	ENSP00000269305:p.Val73fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.V73fs|TP53_uc002gih.2_Frame_Shift_Del_p.V73fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.V73fs|TP53_uc010cni.1_Frame_Shift_Del_p.V73fs|TP53_uc002gij.2_Frame_Shift_Del_p.V73fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.V34fs|TP53_uc010cnk.1_Frame_Shift_Del_p.V88fs	p.V73fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	411	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	73		V -> M (in sporadic cancers; somatic mutation).|V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with WWOX.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.217delG	CCDS11118.1																																																																																				0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		70	289	NA	NA	NA	NA	NA	70	289	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:8409750_8409751insG	ENST00000269243.4	-	25	3316_3317	c.3178_3179insC	c.(3178-3180)ctcfs	p.L1060fs	MYH10_ENST00000379980.4_Frame_Shift_Ins_p.L1076fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.L1081fs|MYH10_ENST00000360416.3_Frame_Shift_Ins_p.L1091fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515																																							uc002gll.2		NA																	0				ovary(2)	2						c.(3178-3180)CTCfs		myosin, heavy polypeptide 10, non-muscle																																				SO:0001589	frameshift_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409750_8409751insG	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3179dupC	17.37:g.8409751_8409751dupG	ENSP00000269243:p.Leu1060fs					MYH10_uc002glm.2_Frame_Shift_Ins_p.L1091fs|MYH10_uc010cnx.2_Frame_Shift_Ins_p.L1069fs	p.L1060fs	NM_005964	NP_005955	P35580	MYH10_HUMAN			25	3274_3275	-			1060			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Ins	INS	ENST00000269243.4	37	c.3178_3179insC	CCDS11144.1																																																																																				0.515	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	225	NA	NA	NA	NA	NA	8	225	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)cccaagfs	p.K84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.K84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495																																							uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(247-252)CCCAAGfs		myosin, heavy chain 3, skeletal muscle,																																				SO:0001589	frameshift_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555835_10555836insG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.250dupC	17.37:g.10555842_10555842dupG	ENSP00000464317:p.Lys84fs						p.P83fs	NM_002470	NP_002461	P11055	MYH3_HUMAN			3	326_327	-			83_84			Myosin head-like.		Q15492	Frame_Shift_Ins	INS	ENST00000583535.1	37	c.249_250insC	CCDS11157.1																																																																																				0.495	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		12	171	NA	NA	NA	NA	NA	12	171	---	---	---	---
PRPSAP2	5636	broad.mit.edu	37	17	18832235	18832236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:18832235_18832236insC	ENST00000268835.2	+	11	1199_1200	c.916_917insC	c.(916-918)gccfs	p.A306fs	PRPSAP2_ENST00000542013.1_Intron|PRPSAP2_ENST00000536323.1_Frame_Shift_Ins_p.A220fs|PRPSAP2_ENST00000419071.2_Frame_Shift_Ins_p.A266fs	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	306					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GTCTTCTGACGCCCCCCGGCGG	0.495																																							uc002gup.1		NA																	0				skin(1)	1						c.(916-918)GCCfs		phosphoribosyl pyrophosphate																																				SO:0001589	frameshift_variant	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18832235_18832236insC	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.922dupC	17.37:g.18832241_18832241dupC	ENSP00000268835:p.Ala306fs					PRPSAP2_uc002guo.1_Frame_Shift_Ins_p.A220fs|PRPSAP2_uc010vyi.1_Frame_Shift_Ins_p.A254fs|PRPSAP2_uc010vyj.1_Frame_Shift_Ins_p.A220fs|PRPSAP2_uc010vyk.1_Intron|PRPSAP2_uc002guq.1_Frame_Shift_Ins_p.A93fs	p.A306fs	NM_002767	NP_002758	O60256	KPRB_HUMAN			11	1127_1128	+			306					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Frame_Shift_Ins	INS	ENST00000268835.2	37	c.916_917insC	CCDS11200.1																																																																																				0.495	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		10	402	NA	NA	NA	NA	NA	10	402	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48																																							uc002heo.1		NA																	0				skin(2)	2						c.(2755-2757)CCAfs		slingshot 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959374_27959375insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs					SSH2_uc010wbh.1_Frame_Shift_Ins_p.P946fs	p.P919fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	2756_2757	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		22	451	NA	NA	NA	NA	NA	22	451	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29562738	29562739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:29562738_29562739delCT	ENST00000358273.4	+	28	4201_4202	c.3818_3819delCT	c.(3817-3819)actfs	p.T1273fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T1273fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1273	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCATGCAGACTCTCTTCCGAG	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.?(2)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(3817-3819)ACTfs		neurofibromin isoform 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562738_29562739delCT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3818_3819delCT	17.37:g.29562742_29562743delCT	ENSP00000351015:p.Thr1273fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.T1273fs|NF1_uc010csn.1_Frame_Shift_Del_p.T1133fs|NF1_uc002hgi.1_Frame_Shift_Del_p.T306fs	p.T1273fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	28	4151_4152	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1273			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.3818_3819delCT	CCDS42292.1																																																																																				0.416	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		12	558	NA	NA	NA	NA	NA	12	558	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2734-2739)CCCAATfs		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs					ACACA_uc002hnk.2_Frame_Shift_Ins_p.P834fs|ACACA_uc002hnl.2_Frame_Shift_Ins_p.P854fs|ACACA_uc002hnn.2_Frame_Shift_Ins_p.P912fs|ACACA_uc002hno.2_Frame_Shift_Ins_p.P949fs|ACACA_uc010cuz.2_Frame_Shift_Ins_p.P912fs	p.P912fs	NM_198836	NP_942133	Q13085	ACACA_HUMAN			22	2927_2928	-		Breast(25;0.00157)|Ovarian(249;0.15)	912_913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2736_2737insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		9	909	NA	NA	NA	NA	NA	9	909	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843872	40843873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40843872_40843873insC	ENST00000264638.4	+	16	2610_2611	c.2393_2394insC	c.(2392-2397)ttccccfs	p.FP798fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	798					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCACTACGCTTCCCCCCAATCC	0.564																																							uc002iay.2		NA																	0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2392-2394)TTCfs		contactin associated protein 1 precursor																																				SO:0001589	frameshift_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843872_40843873insC	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2399dupC	17.37:g.40843878_40843878dupC	ENSP00000264638:p.Phe798fs					CNTNAP1_uc010wgs.1_RNA	p.F798fs	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2609_2610	+		Breast(137;0.000143)	798			Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000264638.4	37	c.2393_2394insC	CCDS11436.1																																																																																				0.564	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		12	643	NA	NA	NA	NA	NA	12	643	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46135787	46135788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:46135787_46135788insG	ENST00000362042.3	+	6	1719_1720	c.1103_1104insG	c.(1102-1107)ctggggfs	p.LG368fs	NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.LG338fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.LG169fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.LG357fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.LG338fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.LG212fs|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.LG180fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	368					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGCA	0.604																																							uc002imz.3		NA																	0				skin(1)	1						c.(1102-1104)CTGfs		nuclear factor erythroid 2-like 1																																				SO:0001589	frameshift_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46135787_46135788insG	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1109dupG	17.37:g.46135793_46135793dupG	ENSP00000354855:p.Leu368fs					NFE2L1_uc002ina.3_Frame_Shift_Ins_p.L338fs|NFE2L1_uc002inb.3_Frame_Shift_Ins_p.L338fs|NFE2L1_uc010wle.1_Frame_Shift_Ins_p.L180fs|NFE2L1_uc010wlf.1_Frame_Shift_Ins_p.L212fs	p.L368fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			6	1754_1755	+			368					D3DTU3|D3DTU5|Q12877|Q96FN6	Frame_Shift_Ins	INS	ENST00000362042.3	37	c.1103_1104insG	CCDS11524.1																																																																																				0.604	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		8	280	NA	NA	NA	NA	NA	8	280	---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46262152	46262153	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:46262152_46262153insG	ENST00000336915.6	-	7	568_569	c.499_500insC	c.(499-501)cacfs	p.H167fs	SKAP1_ENST00000584924.1_Frame_Shift_Ins_p.H167fs|RP11-456D7.1_ENST00000582246.1_RNA	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	167	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCTTCGCAGGTGGGGGGCCATC	0.53																																							uc002ini.1		NA																	0					0						c.(499-501)CACfs		src kinase associated phosphoprotein 1 isoform																																				SO:0001589	frameshift_variant	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46262152_46262153insG	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.500dupC	17.37:g.46262158_46262158dupG	ENSP00000338171:p.His167fs					SKAP1_uc002inj.1_Frame_Shift_Ins_p.H167fs|SKAP1_uc010dbd.1_Frame_Shift_Ins_p.H73fs|SKAP1_uc010dbe.1_Frame_Shift_Ins_p.H167fs	p.H167fs	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			7	611_612	-			167			PH.		D3DTV1|O15268	Frame_Shift_Ins	INS	ENST00000336915.6	37	c.499_500insC	CCDS32674.1																																																																																				0.530	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		7	545	NA	NA	NA	NA	NA	7	545	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000500597.2_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.G532fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.G659fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599																																							uc002iwf.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(1)	1						c.(1975-1977)GGTfs		ring finger protein 43 precursor																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435160_56435161insC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1977dupG	17.37:g.56435167_56435167dupC	ENSP00000463069:p.Gly659fs					RNF43_uc010wnv.1_Frame_Shift_Ins_p.G618fs|RNF43_uc002iwh.3_Frame_Shift_Ins_p.G659fs|RNF43_uc002iwg.3_Frame_Shift_Ins_p.G659fs|RNF43_uc010dcw.2_Frame_Shift_Ins_p.G532fs	p.G659fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	3932_3933	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.1976_1977insG	CCDS11607.1																																																																																				0.599	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	90	NA	NA	NA	NA	NA	7	90	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																							uc010ddr.2		NA																	0					0						c.(961-966)GGGACAfs		ring finger protein 190																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs					MARCH10_uc002jag.3_Frame_Shift_Ins_p.G321fs|MARCH10_uc010dds.2_Frame_Shift_Ins_p.G359fs|MARCH10_uc002jah.2_Frame_Shift_Ins_p.G320fs|uc002jaj.1_RNA|uc002jak.2_RNA	p.G321fs	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	1201_1202	-			321_322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.963_964insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		14	1074	NA	NA	NA	NA	NA	14	1074	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																							uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(3709-3711)CAAfs		ATP-binding cassette, sub-family A, member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs						p.Q1237fs	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			29	3884_3885	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		18	1725	NA	NA	NA	NA	NA	18	1725	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8793003	8793004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:8793003_8793004insC	ENST00000359865.3	+	8	2037_2038	c.1895_1896insC	c.(1894-1899)ggccccfs	p.GP632fs	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2												p.G632A(1)									CAGCTCAGGGGCCCCCCCGTTT	0.554																																							uc002knr.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1894-1896)GGCfs		hypothetical protein LOC23255																																				SO:0001589	frameshift_variant	23255							g.chr18:8793003_8793004insC																												ENST00000359865.3:c.1902dupC	18.37:g.8793010_8793010dupC	ENSP00000352927:p.Gly632fs					KIAA0802_uc002knq.2_Intron|KIAA0802_uc002kns.2_Intron	p.G632fs	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			8	2037_2038	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Frame_Shift_Ins	INS	ENST00000359865.3	37	c.1895_1896insC	CCDS11841.1																																																																																				0.554	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			10	154	NA	NA	NA	NA	NA	10	154	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaaagfs	p.K523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						CATAAGTCCTTTCCCCCCACTC	0.52											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(1564-1569)GGAAAGfs		heart alpha-kinase																																				SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246441_56246442insC	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.1566_1567insG	18.37:g.56246441_56246442insC	ENSP00000354991:p.Lys523fs		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.G522fs	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1780_1781	-			522_523					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Ins	INS	ENST00000361673.3	37	c.1566_1567insG	CCDS11966.2																																																																																				0.520	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		12	336	NA	NA	NA	NA	NA	12	336	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																							uc002nid.2		NA																	0					0						c.(484-489)GTGCCCfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs					MPV17L2_uc010ebj.2_Frame_Shift_Ins_p.A73fs	p.V162fs	NM_032683	NP_116072	Q567V2	M17L2_HUMAN			4	538_539	+			162_163					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		8	88	NA	NA	NA	NA	NA	8	88	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1636-1638)GGCfs		zinc finger protein 537				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs						p.G546fs	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1702_1703	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	206	NA	NA	NA	NA	NA	7	206	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1555-1560)GGGCTTfs		zinc finger protein 537																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs						p.G519fs	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1622_1623	-	Esophageal squamous(110;0.226)		519_520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		9	351	NA	NA	NA	NA	NA	9	351	---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36940725	36940726	+	Frame_Shift_Ins	INS	-	-	C	rs374833866		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:36940725_36940726insC	ENST00000434377.2	-	5	491_492	c.410_411insG	c.(409-411)ggafs	p.G137fs	ZNF566_ENST00000392170.2_Frame_Shift_Ins_p.G138fs|ZNF566_ENST00000493391.1_Frame_Shift_Ins_p.G33fs|ZNF566_ENST00000454319.1_Frame_Shift_Ins_p.G138fs|ZNF566_ENST00000424129.2_Frame_Shift_Ins_p.G137fs	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GATTGAAATGTCCCCCCTGAGA	0.391																																							uc002oea.3		NA																	0					0						c.(409-411)GGAfs		zinc finger protein 566 isoform 1																																				SO:0001589	frameshift_variant	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940725_36940726insC	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.411dupG	19.37:g.36940731_36940731dupC	ENSP00000415520:p.Gly137fs					ZNF566_uc010xte.1_Frame_Shift_Ins_p.G137fs|ZNF566_uc010xtf.1_Frame_Shift_Ins_p.G138fs|ZNF566_uc002oeb.3_Frame_Shift_Ins_p.G137fs|ZNF566_uc002oec.3_Frame_Shift_Ins_p.G33fs|ZNF566_uc010xtg.1_Frame_Shift_Ins_p.G33fs	p.G137fs	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	492_493	-	Esophageal squamous(110;0.162)		137					B7ZL95|Q2M3J1	Frame_Shift_Ins	INS	ENST00000434377.2	37	c.410_411insG	CCDS12494.1																																																																																				0.391	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		11	477	NA	NA	NA	NA	NA	11	477	---	---	---	---
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(868-870)cccfs	p.P290fs	AXL_ENST00000359092.3_Frame_Shift_Ins_p.P290fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.P22fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	290	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649																																							uc010ehj.2		NA																	0		p.V289M(1)		lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(865-870)GTGCCCfs		AXL receptor tyrosine kinase isoform 1																																				SO:0001589	frameshift_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41743932_41743933insC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.874dupC	19.37:g.41743939_41743939dupC	ENSP00000301178:p.Pro290fs					CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Frame_Shift_Ins_p.V289fs|AXL_uc010ehk.2_Frame_Shift_Ins_p.V289fs	p.V289fs	NM_021913	NP_068713	P30530	UFO_HUMAN			7	1057_1058	+			289_290			Extracellular (Potential).|Fibronectin type-III 1.		Q8N5L2|Q9UD27	Frame_Shift_Ins	INS	ENST00000301178.4	37	c.867_868insC	CCDS12575.1																																																																																				0.649	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			8	161	NA	NA	NA	NA	NA	8	161	---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46180611	46180611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:46180611delT	ENST00000590918.1	+	9	923	c.824delT	c.(823-825)gtgfs	p.V275fs	GIPR_ENST00000263281.3_Frame_Shift_Del_p.V275fs|GIPR_ENST00000304207.8_Frame_Shift_Del_p.V239fs|MIR642A_ENST00000385039.1_RNA	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	275					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATTCCCTGGGTGATCGTCAGG	0.706																																							uc002pcu.1		NA																	0				skin(1)	1						c.(823-825)GTGfs		gastric inhibitory polypeptide receptor							10.0	12.0	11.0					19																	46180611		2184	4278	6462	SO:0001589	frameshift_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46180611delT		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.824delT	19.37:g.46180611delT	ENSP00000467494:p.Val275fs					GIPR_uc002pct.1_Frame_Shift_Del_p.V275fs|GIPR_uc010xxp.1_Frame_Shift_Del_p.V239fs|GIPR_uc010xxq.1_Intron	p.V275fs	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	9	923	+		Ovarian(192;0.051)|all_neural(266;0.112)	275			Helical; Name=4; (Potential).		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Frame_Shift_Del	DEL	ENST00000590918.1	37	c.824delT	CCDS12671.1																																																																																				0.706	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																							uc002pie.3		NA																	0					0						c.(64-69)GGGACAfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs					CARD8_uc002pii.3_Frame_Shift_Ins_p.D114fs|CARD8_uc010xzi.1_Frame_Shift_Ins_p.G22fs|CARD8_uc010els.2_5'Flank|CARD8_uc010xzj.1_Frame_Shift_Ins_p.D114fs|CARD8_uc010xzk.1_Frame_Shift_Ins_p.G46fs|CARD8_uc002pif.3_Frame_Shift_Ins_p.G22fs|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Frame_Shift_Ins_p.D64fs|CARD8_uc010xzl.1_Frame_Shift_Ins_p.D64fs|CARD8_uc010xzm.1_Frame_Shift_Ins_p.D114fs	p.G22fs	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	379_380	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	22_23					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.66_67insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		9	326	NA	NA	NA	NA	NA	9	326	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20133236	20133237	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:20133236_20133237delCA	ENST00000345530.3	-	23	2731_2732	c.2616_2617delTG	c.(2614-2619)tgtgaafs	p.CE872fs	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Frame_Shift_Del_p.CE861fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	872					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTGTTCACACATTCCAA	0.356																																							uc002rdi.2		NA																	0				ovary(1)	1						c.(2614-2619)TGTGAAfs		WD repeat domain 35 isoform 1																																				SO:0001589	frameshift_variant	57539							g.chr2:20133236_20133237delCA	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2616_2617delTG	2.37:g.20133240_20133241delCA	ENSP00000314444:p.Cys872fs					WDR35_uc002rdj.2_Frame_Shift_Del_p.C861fs|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Intron	p.C872fs	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			23	2724_2725	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		872_873					B3KVI5|Q4ZG01|Q8NE11	Frame_Shift_Del	DEL	ENST00000345530.3	37	c.2616_2617delTG	CCDS33152.1																																																																																				0.356	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		113	257	NA	NA	NA	NA	NA	113	257	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32678942	32678950	+	In_Frame_Del	DEL	AAGTTGAAC	AAGTTGAAC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	AAGTTGAAC	AAGTTGAAC	-	-	AAGTTGAAC	AAGTTGAAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:32678942_32678950delAAGTTGAAC	ENST00000421745.2	+	23	4819_4827	c.4685_4693delAAGTTGAAC	c.(4684-4695)gaagttgaacct>gct	p.1562_1565EVEP>A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1562					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGACTTTTGGAAGTTGAACCTCTGCACTT	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4684-4695)GAAGTTGAACCT>GCT		baculoviral IAP repeat-containing 6																																				SO:0001651	inframe_deletion	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32678942_32678950delAAGTTGAAC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4685_4693delAAGTTGAAC	2.37:g.32678942_32678950delAAGTTGAAC	ENSP00000393596:p.Glu1562_Pro1565delinsAla						p.1562_1565EVEP>A	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			23	4819_4827	+	Acute lymphoblastic leukemia(172;0.155)		1562_1565					Q9ULD1	In_Frame_Del	DEL	ENST00000421745.2	37	c.4685_4693delAAGTTGAAC	CCDS33175.2																																																																																				0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		23	303	NA	NA	NA	NA	NA	23	303	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																														uc002sfg.2		NA																	0		p.S442S(1)		ovary(2)|skin(2)	4						c.(1324-1326)TCCfs		anthrax toxin receptor 1 isoform 1 precursor																																				SO:0001589	frameshift_variant	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs						p.S442fs	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			16	1680_1681	+			442			Cytoplasmic (Potential).		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		9	498	NA	NA	NA	NA	NA	9	498	---	---	---	---
GMCL1	64395	broad.mit.edu	37	2	70074752	70074753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:70074752_70074753insA	ENST00000282570.3	+	7	1087_1088	c.836_837insA	c.(835-840)ctaaaafs	p.LK279fs		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	279					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TACACTGCTCTAAAAAAGGTAC	0.351																																							uc002sfu.2		NA																	0				ovary(3)	3						c.(835-837)CTAfs		germ cell-less																																				SO:0001589	frameshift_variant	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70074752_70074753insA	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.842dupA	2.37:g.70074758_70074758dupA	ENSP00000282570:p.Leu279fs						p.L279fs	NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN			7	1043_1044	+			279					Q9H826|Q9H8V7|Q9H927	Frame_Shift_Ins	INS	ENST00000282570.3	37	c.836_837insA	CCDS1895.1																																																																																				0.351	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		7	749	NA	NA	NA	NA	NA	7	749	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73302654	73302655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:73302654_73302655insG	ENST00000258098.6	-	5	2196_2197	c.1956_1957insC	c.(1954-1959)cccaaafs	p.K653fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	653					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAAGGCTATTTGGGGGGGCCCG	0.629																																							uc002siu.3		NA																	0					0						c.(1954-1959)CCCAAAfs		RAB11 family interacting protein 5 (class I)																																				SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73302654_73302655insG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1957dupC	2.37:g.73302661_73302661dupG	ENSP00000258098:p.Lys653fs					RAB11FIP5_uc002sis.3_Frame_Shift_Ins_p.P31fs|RAB11FIP5_uc002sit.3_Frame_Shift_Ins_p.P574fs	p.P652fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			5	2197_2198	-			652_653					O94939|Q9P0M1	Frame_Shift_Ins	INS	ENST00000258098.6	37	c.1956_1957insC	CCDS1923.1																																																																																				0.629	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		9	76	NA	NA	NA	NA	NA	9	76	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74900582	74900583	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:74900582_74900583insG	ENST00000357877.2	+	6	699		c.e6-1		SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGCCCTGCAGGGGGGGTCCT	0.589																																							uc002sna.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.e6-1		semaphorin W precursor																																				SO:0001630	splice_region_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900582_74900583insG	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.551-1->G	2.37:g.74900589_74900589dupG						SEMA4F_uc010ysb.1_Splice_Site_p.G120_splice|SEMA4F_uc010ffq.1_Splice_Site_p.G151_splice|SEMA4F_uc010ffr.1_Splice_Site|SEMA4F_uc002snb.1_Splice_Site|SEMA4F_uc002snc.1_Intron	p.G184_splice	NM_004263	NP_004254	O95754	SEM4F_HUMAN			6	662	+								Q542Y7|Q9NS35	Splice_Site	INS	ENST00000357877.2	37	c.551_splice	CCDS1955.1																																																																																				0.589	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	Intron	7	153	NA	NA	NA	NA	NA	7	153	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(961-963)gggfs	p.G321fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G293fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545																																							uc002snd.2		NA																	0				ovary(1)|lung(1)	2						c.(958-963)TTTGGGfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104377_75104378insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.966dupG	2.37:g.75104383_75104383dupG	ENSP00000290573:p.Gly321fs						p.F320fs	NM_000189	NP_000180	P52789	HXK2_HUMAN			8	2886_2887	+			320_321			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.960_961insG	CCDS1956.1																																																																																				0.545	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		10	433	NA	NA	NA	NA	NA	10	433	---	---	---	---
KCMF1	56888	broad.mit.edu	37	2	85280407	85280408	+	Frame_Shift_Ins	INS	-	-	G	rs375040118		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:85280407_85280408insG	ENST00000409785.4	+	7	1380_1381	c.1021_1022insG	c.(1021-1023)cggfs	p.R341fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	341							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TGAGGATGATCGGGGGGAGATG	0.45																																							uc002sox.3		NA																	0				ovary(2)	2						c.(1021-1023)CGGfs		potassium channel modulatory factor 1																																				SO:0001589	frameshift_variant	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85280407_85280408insG	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.1027dupG	2.37:g.85280413_85280413dupG	ENSP00000386738:p.Arg341fs						p.R341fs	NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN			7	1365_1366	+			341					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Frame_Shift_Ins	INS	ENST00000409785.4	37	c.1021_1022insG	CCDS46350.1																																																																																				0.450	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		8	199	NA	NA	NA	NA	NA	8	199	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2		NA																	0				ovary(1)|breast(1)	2						c.(721-723)TCCfs		interleukin 1 receptor, type II precursor	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs					IL1R2_uc002tbn.2_Frame_Shift_Ins_p.S241fs|IL1R2_uc002tbo.1_Frame_Shift_Ins_p.S241fs	p.S241fs	NM_004633	NP_004624	P27930	IL1R2_HUMAN			6	950_951	+			241			Extracellular (Potential).|Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		13	500	NA	NA	NA	NA	NA	13	500	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103324745	103324746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:103324745_103324746insC	ENST00000233969.2	+	12	2378_2379	c.2236_2237insC	c.(2236-2238)accfs	p.T746fs		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	746					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAACA	0.53																																							uc002tca.2		NA																	0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(2236-2238)ACCfs		solute carrier family 9 (sodium/hydrogen																																				SO:0001589	frameshift_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324745_103324746insC		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2243dupC	2.37:g.103324752_103324752dupC	ENSP00000233969:p.Thr746fs						p.T746fs	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			12	2378_2379	+			746			Cytoplasmic (Potential).		B2RMS2	Frame_Shift_Ins	INS	ENST00000233969.2	37	c.2236_2237insC	CCDS2062.1																																																																																				0.530	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			17	310	NA	NA	NA	NA	NA	17	310	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112582738	112582739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:112582738_112582739insG	ENST00000341068.3	-	23	3482_3483	c.2710_2711insC	c.(2710-2712)cagfs	p.Q904fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	904					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTGCAACTTCTGGGGGGCTAAA	0.302																																							uc002thi.2		NA																	0				skin(2)	2						c.(2710-2712)CAGfs		anaphase promoting complex subunit 1																																				SO:0001589	frameshift_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112582738_112582739insG	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2711dupC	2.37:g.112582744_112582744dupG	ENSP00000339109:p.Gln904fs						p.Q904fs	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			23	2957_2958	-			904					Q2M3H8|Q9BSE6|Q9H8D0	Frame_Shift_Ins	INS	ENST00000341068.3	37	c.2710_2711insC	CCDS2093.1																																																																																				0.302	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		8	456	NA	NA	NA	NA	NA	8	456	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)cccaagfs	p.K1101fs	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.K1101fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.									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						AAGGAAGGCTTGGGGGGTGTGG	0.505																																							uc002ttp.2		NA																	0					0						c.(3298-3303)CCCAAGfs		Nck-associated protein 5 isoform 1																																				SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133541083_133541084insG	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.3301dupC	2.37:g.133541089_133541089dupG	ENSP00000387128:p.Lys1101fs					NCKAP5_uc002ttq.2_Intron	p.P1100fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3674_3675	-			1100_1101			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Ins	INS	ENST00000409261.1	37	c.3300_3301insC	CCDS46418.1																																																																																				0.505	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	847	NA	NA	NA	NA	NA	7	847	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136389448	136389449	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:136389448_136389449insC	ENST00000264160.4	+	9	945_946	c.575_576insC	c.(574-579)ttccccfs	p.FP192fs	R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.FP148fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.FP148fs|R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.FP192fs|R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.FP136fs	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	192	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CGTAAAAAATTCCCCCCAATGA	0.396																																							uc002tuo.2		NA																	0				skin(1)	1						c.(574-576)TTCfs		R3H domain containing 1																																				SO:0001589	frameshift_variant	23518						nucleic acid binding	g.chr2:136389448_136389449insC	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.581dupC	2.37:g.136389454_136389454dupC	ENSP00000264160:p.Phe192fs					R3HDM1_uc010fni.2_Frame_Shift_Ins_p.F190fs|R3HDM1_uc002tup.2_Frame_Shift_Ins_p.F136fs|R3HDM1_uc010zbh.1_Frame_Shift_Ins_p.F24fs	p.F192fs	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	9	945_946	+			192			R3H.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Frame_Shift_Ins	INS	ENST00000264160.4	37	c.575_576insC	CCDS2177.1																																																																																				0.396	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		9	469	NA	NA	NA	NA	NA	9	469	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1303-1305)aaafs	p.K435fs	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K435fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.K327fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366																																							uc002twg.2		NA																	3	Deletion - Frameshift(3)		large_intestine(2)|ovary(1)	stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(1300-1305)CATAAAfs		activin A receptor, type IIA precursor																																				SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683685_148683686insA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1310dupA	2.37:g.148683693_148683693dupA	ENSP00000241416:p.Lys435fs					ACVR2A_uc010zbn.1_Frame_Shift_Ins_p.H326fs|ACVR2A_uc002twh.2_Frame_Shift_Ins_p.H434fs	p.H434fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	11	1571_1572	+			434_435			Cytoplasmic (Potential).|Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	ENST00000241416.7	37	c.1302_1303insA	CCDS33301.1																																																																																				0.366	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		57	314	NA	NA	NA	NA	NA	57	314	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166532949	166532950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:166532949_166532950insA	ENST00000342316.4	+	4	808_809	c.536_537insA	c.(535-540)acaaaafs	p.TK179fs	CSRNP3_ENST00000409420.1_Frame_Shift_Ins_p.TK211fs|CSRNP3_ENST00000314499.7_Frame_Shift_Ins_p.TK179fs	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CCTTTGCCAACAAAAAAACGAA	0.48																																							uc002udf.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(535-537)ACAfs		cysteine-serine-rich nuclear protein 3																																				SO:0001589	frameshift_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532949_166532950insA	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.543dupA	2.37:g.166532956_166532956dupA	ENSP00000344042:p.Thr179fs					CSRNP3_uc002udg.2_Frame_Shift_Ins_p.T179fs	p.T179fs	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			6	912_913	+			179					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Frame_Shift_Ins	INS	ENST00000342316.4	37	c.536_537insA	CCDS2225.1																																																																																				0.480	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		9	745	NA	NA	NA	NA	NA	9	745	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(2053-2058)ACTGGGfs		xin actin-binding repeat containing 2 isoform 1																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Ins_p.T510fs|XIRP2_uc010fpq.2_Frame_Shift_Ins_p.T463fs|XIRP2_uc010fpr.2_Intron	p.T685fs	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2073_2074	+			510_511					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	326	NA	NA	NA	NA	NA	15	326	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																							uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(1222-1227)AATCCCfs		myosin IIIB isoform 2																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs					MYO3B_uc002ufv.2_Frame_Shift_Ins_p.N395fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.N395fs|MYO3B_uc002ufz.2_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.N408fs	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			12	1367_1368	+			408_409			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1224_1225insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			13	269	NA	NA	NA	NA	NA	13	269	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611375	179611375	+	Intron	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179611375delC	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Frame_Shift_Del_p.G5251fs|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTACTCTCCCCCTTCTCC	0.408																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15751-15753)GGAfs		titin isoform novex-3							148.0	139.0	142.0					2																	179611375		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611375delC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4727G>-	2.37:g.179611375delC						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.G5251fs	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15976	-			8770					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.15752delG																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	255	NA	NA	NA	NA	NA	8	255	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																							uc002uof.2		NA																	0				ovary(1)	1	GRCh37	CI992797	NEUROD1	I		c.(616-618)CACfs		neurogenic differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs					CERKL_uc002uod.1_Intron	p.H206fs	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	852_853	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		14	178	NA	NA	NA	NA	NA	14	178	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|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)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|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 alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	Melanoma(58;108 1995 6081)	uc002upq.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1675-1677)AGGfs		integrin alpha-V isoform 1 precursor																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|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|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs					ITGAV_uc010frs.2_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.1_Frame_Shift_Ins_p.R513fs	p.R559fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1951_1952	+			559			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		19	710	NA	NA	NA	NA	NA	19	710	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NA																	2	Insertion - Frameshift(2)		ovary(2)	skin(2)|ovary(1)	3						c.(2332-2334)CACfs		ADAM metallopeptidase domain 23 preproprotein																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs					ADAM23_uc010ziv.1_Intron	p.H778fs	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2556_2557	+			778			Extracellular (Potential).		A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		9	120	NA	NA	NA	NA	NA	9	120	---	---	---	---
CXCR2P1	3580	broad.mit.edu	37	2	218925421	218925421	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:218925421delG	ENST00000439871.1	-	0	959					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		TGCCCCATATGGGCCTTAAAC	0.552																																							uc002vgx.2		NA																	0					0						c.(298-300)CCCfs		Homo sapiens interleukin 8 receptor, beta pseudogene, mRNA (cDNA clone IMAGE:5450999), with apparent retained intron.																																						3580							g.chr2:218925421delG	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925421delG						RUFY4_uc002vgw.2_Intron	p.P100fs	NR_002712						1	593	-									Frame_Shift_Del	DEL	ENST00000439871.1	37	c.300delC																																																																																					0.552	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		10	349	NA	NA	NA	NA	NA	10	349	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)accfs	p.T618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.T307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.5																																							uc002via.2		NA																	0				ovary(1)	1						c.(1852-1854)ACCfs		villin 1																																				SO:0001589	frameshift_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301230_219301231insC	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1858dupC	2.37:g.219301236_219301236dupC	ENSP00000248444:p.Thr618fs					VIL1_uc010zke.1_Frame_Shift_Ins_p.T307fs|VIL1_uc002vib.2_Frame_Shift_Ins_p.T618fs	p.T618fs	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1917_1918	+		Renal(207;0.0474)	618			Core.		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Ins	INS	ENST00000248444.5	37	c.1852_1853insC	CCDS2417.1																																																																																				0.500	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		12	332	NA	NA	NA	NA	NA	12	332	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233708910	233708912	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	AGC	AGC	-	-	AGC	AGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:233708910_233708912delAGC	ENST00000409547.1	+	26	3355_3357	c.3044_3046delAGC	c.(3043-3048)aagcag>aag	p.Q1022del	GIGYF2_ENST00000452341.2_In_Frame_Del_p.A864del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1022del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1016del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1044del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1043del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1044del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1022	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAAATGCAAAagcagcagcagca	0.483																																							uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(3043-3048)AAGCAG>AAG		GRB10 interacting GYF protein 2 isoform b			,,,	180,44,3982		16,2,146,2,38,1899					,,,	1.1	1.0			32	4,99,8043		0,0,4,5,89,3975	no	codingComplex,codingComplex,codingComplex,codingComplex	GIGYF2	NM_015575.3,NM_001103148.1,NM_001103147.1,NM_001103146.1	,,,	16,2,150,7,127,5874	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2644,5.3257,2.6473	,,,	,,,		184,143,12025				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708910_233708912delAGC	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3044_3046delAGC	2.37:g.233708919_233708921delAGC	ENSP00000386537:p.Gln1022del					GIGYF2_uc002vtj.3_In_Frame_Del_p.Q1043del|GIGYF2_uc002vtk.3_In_Frame_Del_p.Q1022del|GIGYF2_uc002vth.3_In_Frame_Del_p.Q1016del|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_In_Frame_Del_p.A864del|GIGYF2_uc002vtq.3_In_Frame_Del_p.Q355del	p.Q1022del	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3381_3383	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1022			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.3044_3046delAGC	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1246-1248)GCCfs		SH2 containing inositol phosphatase isoform a																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs					INPP5D_uc010zmp.1_Frame_Shift_Ins_p.A415fs	p.A416fs	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	11	1399_1400	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1246_1247insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		9	368	NA	NA	NA	NA	NA	9	368	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234879009	234879010	+	Frame_Shift_Ins	INS	-	-	C	rs201204922		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:234879009_234879010insC	ENST00000324695.4	+	17	2334_2335	c.2294_2295insC	c.(2293-2298)caccccfs	p.HP765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574																																							uc002vvh.2		NA																	0				skin(4)	4						c.(2293-2295)CACfs		transient receptor potential cation channel,	Menthol(DB00825)																																			SO:0001589	frameshift_variant	79054					integral to membrane		g.chr2:234879009_234879010insC	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2301dupC	2.37:g.234879016_234879016dupC	ENSP00000323926:p.His765fs					TRPM8_uc010fyj.2_Intron	p.H765fs	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2334_2335	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	765			Helical; Name=3; (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Frame_Shift_Ins	INS	ENST00000324695.4	37	c.2294_2295insC	CCDS33407.1																																																																																				0.574	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		13	258	NA	NA	NA	NA	NA	13	258	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					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)			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)		AATCACCAGGTGGGGGGGCAGG	0.535																																							uc002vyn.2		NA																	0				central_nervous_system(1)	1						c.(604-606)CACfs		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)																																			SO:0001589	frameshift_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.chr2:240954220_240954221insG	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.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_uc010fzc.1_Frame_Shift_Ins_p.H242fs|NDUFA10_uc002vyo.1_Frame_Shift_Ins_p.H202fs	p.H202fs	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)	5	684_685	-		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)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		9	218	NA	NA	NA	NA	NA	9	218	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554																																							uc002wtp.2		NA																	0				ovary(1)	1						c.(241-243)GTGfs		cystatin SN precursor																																				SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729753_23729754insC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.242dupG	20.37:g.23729760_23729760dupC	ENSP00000305731:p.Val81fs						p.V81fs	NM_001898	NP_001889	P01037	CYTN_HUMAN			2	312_313	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Ins	INS	ENST00000304749.2	37	c.241_242insG	CCDS13160.1																																																																																				0.554	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		9	331	NA	NA	NA	NA	NA	9	331	---	---	---	---
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1609-1611)cccfs	p.P537fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.P505fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	537					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574																																							uc002xgp.2		NA																	0				ovary(2)|skin(1)	3						c.(1606-1611)AGGCCCfs		ribophorin II isoform 1 precursor																																				SO:0001589	frameshift_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35860725_35860726insC	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1614dupC	20.37:g.35860731_35860731dupC	ENSP00000237530:p.Pro537fs					RPN2_uc002xgq.2_Frame_Shift_Ins_p.R504fs	p.R536fs	NM_002951	NP_002942	P04844	RPN2_HUMAN			14	1912_1913	+		Myeloproliferative disorder(115;0.00878)	536_537			Lumenal (Potential).		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Frame_Shift_Ins	INS	ENST00000237530.6	37	c.1608_1609insC	CCDS13291.1																																																																																				0.574	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		7	716	NA	NA	NA	NA	NA	7	716	---	---	---	---
RPRD1B	58490	broad.mit.edu	37	20	36676873	36676874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:36676873_36676874insC	ENST00000373433.4	+	3	807_808	c.405_406insC	c.(406-408)cccfs	p.P136fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	136					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CCAAGAGCCCTCCCCCCAAAGG	0.47																																							uc002xho.3		NA																	0				pancreas(1)	1						c.(403-408)CCTCCCfs		Regulation of nuclear pre-mRNA domain containing																																				SO:0001589	frameshift_variant	58490							g.chr20:36676873_36676874insC	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.411dupC	20.37:g.36676879_36676879dupC	ENSP00000362532:p.Pro136fs						p.P135fs	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			3	807_808	+			135_136					Q1WDE7|Q6PKF4	Frame_Shift_Ins	INS	ENST00000373433.4	37	c.405_406insC	CCDS13301.1																																																																																				0.470	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		14	361	NA	NA	NA	NA	NA	14	361	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																							uc002xiw.2		NA																	1	Insertion - Frameshift(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1135-1137)ACCfs		Ral GTPase activating protein, beta subunit																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs					RALGAPB_uc010zvz.1_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xix.2_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xiz.2_Frame_Shift_Ins_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Ins_p.T106fs	p.T379fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			8	1392_1393	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		8	124	NA	NA	NA	NA	NA	8	124	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37203484	37203485	+	Frame_Shift_Ins	INS	-	-	C	rs138886522	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:37203484_37203485insC	ENST00000262879.6	+	30	4643_4644	c.4359_4360insC	c.(4360-4362)cccfs	p.P1454fs	RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P1233fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P1454fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P1451fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1454					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCTACAGTCCCCCCCATGT	0.431																																							uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(4357-4362)AGTCCCfs		Ral GTPase activating protein, beta subunit																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37203484_37203485insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4366dupC	20.37:g.37203491_37203491dupC	ENSP00000262879:p.Pro1454fs					RALGAPB_uc002xix.2_Frame_Shift_Ins_p.S1450fs|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Frame_Shift_Ins_p.S1232fs	p.S1453fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			30	4616_4617	+			1453_1454					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.4359_4360insC	CCDS13305.1																																																																																				0.431	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		10	173	NA	NA	NA	NA	NA	10	173	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	GBM(64;162 1089 31780 33427 34538)	uc002xnm.1		NA																	0				ovary(1)	1						c.(304-309)CCCAATfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs						p.P102fs	NM_003064	NP_003055	P03973	SLPI_HUMAN			3	328_329	-		Myeloproliferative disorder(115;0.0122)	102_103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			14	329	NA	NA	NA	NA	NA	14	329	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																							uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(2323-2328)CCCAAAfs		potassium voltage-gated channel, Shab-related																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs					KCNB1_uc002xus.1_Frame_Shift_Ins_p.P775fs	p.P775fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2489_2490	-			775_776			Cytoplasmic (Potential).		Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		33	720	NA	NA	NA	NA	NA	33	720	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C	rs375410323		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57478756_57478757insC	ENST00000371085.3	+	5	766_767	c.342_343insC	c.(343-345)cccfs	p.P115fs	GNAS_ENST00000306090.10_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000371100.4_Frame_Shift_Ins_p.P758fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.P116fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.P744fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.P100fs	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	115			P -> L (in AHO). {ECO:0000269|PubMed:11600516}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Insertion - Frameshift(2)		haematopoietic_and_lymphoid_tissue(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	GRCh37	CM980947	GNAS	M		c.(2269-2274)GTGCCCfs		GNAS complex locus XLas																																				SO:0001589	frameshift_variant	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57478756_57478757insC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.348dupC	20.37:g.57478762_57478762dupC	ENSP00000360126:p.Pro115fs	TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Frame_Shift_Ins_p.V55fs|GNAS_uc002xzx.2_Frame_Shift_Ins_p.V55fs|GNAS_uc010gjr.2_Frame_Shift_Ins_p.V5fs|GNAS_uc002xzy.2_Frame_Shift_Ins_p.V40fs|GNAS_uc002yaa.2_Frame_Shift_Ins_p.V100fs|GNAS_uc010zzt.1_Frame_Shift_Ins_p.V115fs|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Frame_Shift_Ins_p.V5fs|GNAS_uc002yae.2_Frame_Shift_Ins_p.V39fs	p.V757fs	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		5	2556_2557	+	all_lung(29;0.0104)		114_115		P -> L (in AHO).			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Ins	INS	ENST00000371085.3	37	c.2271_2272insC	CCDS13472.1																																																																																				0.559	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		8	201	NA	NA	NA	NA	NA	8	201	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(466-468)cccfs	p.P156fs	ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.P119fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.P156fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.P156fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	156					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525																																							uc002yta.1		NA																	0				ovary(3)|skin(1)	4						c.(463-468)GTGCCCfs		intersectin 1 isoform ITSN-l																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122566_35122567insC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.472dupC	21.37:g.35122573_35122573dupC	ENSP00000370719:p.Pro156fs					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmg.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmi.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gmj.2_Frame_Shift_Ins_p.V39fs|ITSN1_uc002ysy.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ysx.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc002ytb.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ytc.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Frame_Shift_Ins_p.V89fs	p.V155fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			6	733_734	+			155_156					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.465_466insC	CCDS33545.1																																																																																				0.525	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		11	297	NA	NA	NA	NA	NA	11	297	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41414355	41414356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41414355_41414356insG	ENST00000400454.1	-	32	6105_6106	c.5628_5629insC	c.(5626-5631)cccaaafs	p.K1877fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1877					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTGAGGTTTGGGGGGAGATG	0.569																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5626-5631)CCCAAAfs		Down syndrome cell adhesion molecule isoform																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41414355_41414356insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5629dupC	21.37:g.41414361_41414361dupG	ENSP00000383303:p.Lys1877fs					DSCAM_uc002yyr.1_RNA	p.P1876fs	NM_001389	NP_001380	O60469	DSCAM_HUMAN			32	6080_6081	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1876_1877			Cytoplasmic (Potential).		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.5628_5629insC	CCDS42929.1																																																																																				0.569	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		7	255	NA	NA	NA	NA	NA	7	255	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3274-3279)CCCGAAfs		Down syndrome cell adhesion molecule isoform																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs					DSCAM_uc002yyr.1_RNA	p.P1092fs	NM_001389	NP_001380	O60469	DSCAM_HUMAN			18	3728_3729	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092_1093			Extracellular (Potential).|Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		23	1211	NA	NA	NA	NA	NA	23	1211	---	---	---	---
RSPH1	89765	broad.mit.edu	37	21	43913175	43913176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43913175_43913176insC	ENST00000291536.3	-	2	235_236	c.68_69insG	c.(67-69)ggtfs	p.G23fs	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	23					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTCATTCCGACCCCCCTCATA	0.5																																					Esophageal Squamous(23;63 706 6286 10288 12913)	Esophageal Squamous(23;63 706 6286 10288 12913)	uc002zbg.2		NA																	0				ovary(1)	1						c.(67-69)GGTfs		testis-specific gene A2																																				SO:0001589	frameshift_variant	89765				meiosis	cytosol|nucleus		g.chr21:43913175_43913176insC	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.69dupG	21.37:g.43913181_43913181dupC	ENSP00000291536:p.Gly23fs					SLC37A1_uc002zbh.1_5'Flank	p.G23fs	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN			2	173_174	-			23			MORN 1.		A8MWV0|B2RBN9|Q3MJA1	Frame_Shift_Ins	INS	ENST00000291536.3	37	c.68_69insG	CCDS13688.1																																																																																				0.500	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			11	595	NA	NA	NA	NA	NA	11	595	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	46000206	46000207	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:46000206_46000207insG	ENST00000400372.1	-	1	274_275	c.249_250insC	c.(247-252)ccctgcfs	p.C84fs	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	84	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gcctgctggcagggggaggagg	0.678																																							uc002zfl.1		NA																	0					0						c.(247-252)CCCTGCfs		keratin associated protein 10-5																																				SO:0001589	frameshift_variant	386680					keratin filament		g.chr21:46000206_46000207insG	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.250dupC	21.37:g.46000211_46000211dupG	ENSP00000383223:p.Cys84fs					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P83fs	NM_198694	NP_941967	P60370	KR105_HUMAN			1	275_276	-			83_84			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Frame_Shift_Ins	INS	ENST00000400372.1	37	c.249_250insC	CCDS42958.1																																																																																				0.678	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			10	339	NA	NA	NA	NA	NA	10	339	---	---	---	---
TPST2	8459	broad.mit.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:26932298_26932299insG	ENST00000338754.4	-	4	1266_1267	c.996_997insC	c.(994-999)cccaacfs	p.N333fs	TPST2_ENST00000403880.1_Frame_Shift_Ins_p.N333fs|TPST2_ENST00000398110.2_Frame_Shift_Ins_p.N333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584																																							uc003acv.2		NA																	0				central_nervous_system(1)	1						c.(994-999)CCCAACfs		tyrosylprotein sulfotransferase 2																																				SO:0001589	frameshift_variant	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26932298_26932299insG	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.997dupC	22.37:g.26932305_26932305dupG	ENSP00000339813:p.Asn333fs					TPST2_uc003acw.2_Frame_Shift_Ins_p.P332fs|TPST2_uc003acx.2_Frame_Shift_Ins_p.P332fs	p.P332fs	NM_003595	NP_003586	O60704	TPST2_HUMAN			3	1164_1165	-			332_333			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Frame_Shift_Ins	INS	ENST00000338754.4	37	c.996_997insC	CCDS13839.1																																																																																				0.584	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		8	79	NA	NA	NA	NA	NA	8	79	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																							uc003afr.2		NA																	0				breast(3)	3						c.e10-1		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG						THOC5_uc003afq.2_5'Flank|THOC5_uc003afs.2_Splice_Site_p.D283_splice|THOC5_uc003aft.2_Splice_Site_p.D283_splice|THOC5_uc003afu.2_Splice_Site_p.D283_splice|THOC5_uc010gvo.2_Splice_Site_p.N27_splice|THOC5_uc003afv.1_Intron	p.D283_splice	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			10	1183	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37	c.848_splice	CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	7	281	NA	NA	NA	NA	NA	7	281	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30408493	30408494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:30408493_30408494insC	ENST00000401950.2	+	13	1600_1601	c.1258_1259insC	c.(1258-1260)accfs	p.T420fs	MTMR3_ENST00000333027.3_Frame_Shift_Ins_p.T420fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.T420fs|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.T284fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.T420fs	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	420	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGGGACCGCACCCCCCAGATT	0.545																																							uc003agv.3		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1258-1260)ACCfs		myotubularin-related protein 3 isoform c																																				SO:0001589	frameshift_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30408493_30408494insC	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1264dupC	22.37:g.30408499_30408499dupC	ENSP00000384651:p.Thr420fs					MTMR3_uc003agu.3_Frame_Shift_Ins_p.T420fs|MTMR3_uc003agw.3_Frame_Shift_Ins_p.T420fs	p.T420fs	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		13	1586_1587	+			420			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Frame_Shift_Ins	INS	ENST00000401950.2	37	c.1258_1259insC	CCDS13870.1																																																																																				0.545	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		16	1523	NA	NA	NA	NA	NA	16	1523	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4521)ctggggfs	p.LG1506fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.LG702fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.LG702fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.LG1396fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.48																																							uc011aor.1		NA																	0					0						c.(4516-4518)CTGfs		trinucleotide repeat containing 6B isoform 1																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708590_40708591insG	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4523dupG	22.37:g.40708596_40708596dupG	ENSP00000401946:p.Leu1506fs					TNRC6B_uc003aym.2_Frame_Shift_Ins_p.L702fs|TNRC6B_uc003ayn.3_Frame_Shift_Ins_p.L1396fs|TNRC6B_uc003ayo.2_Frame_Shift_Ins_p.L1253fs	p.L1506fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			18	4728_4729	+			1506					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.4517_4518insG	CCDS54533.1																																																																																				0.480	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				10	1019	NA	NA	NA	NA	NA	10	1019	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564																																							uc003bcj.1		NA																	0				ovary(4)|skin(1)	5						c.(364-366)CAGfs		transcription factor 20 isoform 1																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610947_42610948insG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.365dupC	22.37:g.42610954_42610954dupG	ENSP00000352463:p.Gln122fs					TCF20_uc003bck.1_Frame_Shift_Ins_p.Q122fs|TCF20_uc003bnt.2_Frame_Shift_Ins_p.Q122fs	p.Q122fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	498_499	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.364_365insC	CCDS14033.1																																																																																				0.564	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		14	611	NA	NA	NA	NA	NA	14	611	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.47		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		2	Substitution - Missense(1)|Whole gene deletion(1)	p.T495A(1)|p.0?(1)	ovary(1)|breast(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(1483-1485)ACCfs	MMR	MutL protein homolog 1																																				SO:0001589	frameshift_variant	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070348_37070349insC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1489dupC	3.37:g.37070354_37070354dupC	ENSP00000231790:p.Thr495fs					MLH1_uc011aye.1_Frame_Shift_Ins_p.T254fs|MLH1_uc011ayb.1_Frame_Shift_Ins_p.T254fs|MLH1_uc010hge.2_Frame_Shift_Ins_p.T495fs|MLH1_uc003cgn.3_Frame_Shift_Ins_p.T254fs|MLH1_uc011ayc.1_Frame_Shift_Ins_p.T397fs|MLH1_uc011ayd.1_Frame_Shift_Ins_p.T254fs|MLH1_uc003cgo.2_Frame_Shift_Ins_p.T254fs|MLH1_uc010hgi.1_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgj.1_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgk.2_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgl.1_Frame_Shift_Ins_p.T70fs|MLH1_uc010hgn.2_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_Frame_Shift_Ins_p.T137fs	p.T495fs	NM_000249	NP_000240	P40692	MLH1_HUMAN			13	1543_1544	+			495			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1483_1484insC	CCDS2663.1																																																																																				0.470	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		7	572	NA	NA	NA	NA	NA	7	572	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242449	42242450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:42242449_42242450insC	ENST00000327628.5	+	12	1730_1731	c.1330_1331insC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.T370fs|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCGTCAGCACCCCCCGGTCC	0.594																																					GBM(44;195 884 22595 31865 41850)	GBM(44;195 884 22595 31865 41850)	uc003cky.2		NA																	0				ovary(1)	1						c.(1330-1332)ACCfs		OGT(O-Glc-NAc transferase)-interacting protein																																				SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242449_42242450insC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1336dupC	3.37:g.42242455_42242455dupC	ENSP00000328998:p.Thr444fs					TRAK1_uc011azh.1_Frame_Shift_Ins_p.T444fs|TRAK1_uc011azi.1_Frame_Shift_Ins_p.T444fs|TRAK1_uc003ckz.3_Frame_Shift_Ins_p.T370fs|TRAK1_uc011azj.1_Frame_Shift_Ins_p.T370fs|TRAK1_uc003cla.2_Frame_Shift_Ins_p.T386fs	p.T444fs	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			12	1546_1547	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Ins	INS	ENST00000327628.5	37	c.1330_1331insC	CCDS43072.1																																																																																				0.594	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		8	201	NA	NA	NA	NA	NA	8	201	---	---	---	---
PFKFB4	5210	broad.mit.edu	37	3	48573780	48573781	+	Frame_Shift_Ins	INS	-	-	G	rs142200739		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:48573780_48573781insG	ENST00000232375.3	-	8	860_861	c.748_749insC	c.(748-750)cgcfs	p.R250fs	PFKFB4_ENST00000383734.2_Frame_Shift_Ins_p.R250fs|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Frame_Shift_Ins_p.R250fs|PFKFB4_ENST00000541519.1_Frame_Shift_Ins_p.R216fs|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000536104.1_Frame_Shift_Ins_p.R239fs	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	250	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTAGATGGAGCGGGGGGTCACG	0.619																																							uc003ctv.2		NA																	0				breast(1)	1						c.(748-750)CGCfs		6-phosphofructo-2-kinase/fructose-2,																																				SO:0001589	frameshift_variant	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48573780_48573781insG	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.749dupC	3.37:g.48573786_48573786dupG	ENSP00000232375:p.Arg250fs					PFKFB4_uc003ctw.2_Frame_Shift_Ins_p.R59fs|PFKFB4_uc010hkc.2_Frame_Shift_Ins_p.R250fs|PFKFB4_uc003ctx.2_Frame_Shift_Ins_p.R207fs|PFKFB4_uc010hkb.2_Frame_Shift_Ins_p.R250fs|PFKFB4_uc011bbm.1_Frame_Shift_Ins_p.R239fs|PFKFB4_uc011bbn.1_RNA	p.R250fs	NM_004567	NP_004558	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	8	765_766	-			250			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Frame_Shift_Ins	INS	ENST00000232375.3	37	c.748_749insC	CCDS2771.1																																																																																				0.619	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		12	610	NA	NA	NA	NA	NA	12	610	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495																																							uc003cyc.2		NA																	0				ovary(2)	2						c.(286-288)AGGfs		RNA binding motif protein 6																																				SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005144_50005145insG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.293dupG	3.37:g.50005151_50005151dupG	ENSP00000266022:p.Arg96fs					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	p.R96fs	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	419_420	+			96					O60549|O75524|Q86SS3	Frame_Shift_Ins	INS	ENST00000266022.4	37	c.286_287insG	CCDS2809.1																																																																																				0.495	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		7	221	NA	NA	NA	NA	NA	7	221	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																							uc003dkj.3		NA																	0				skin(1)	1						c.(124-129)TTTGGGfs		potassium channel tetramerisation domain																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs					KCTD6_uc003dki.3_Frame_Shift_Ins_p.F42fs|KCTD6_uc003dkk.3_Frame_Shift_Ins_p.F42fs	p.F42fs	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	3	243_244	+			42_43			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		15	353	NA	NA	NA	NA	NA	15	353	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:63981831_63981832insC	ENST00000295900.6	+	12	2883_2884	c.2333_2334insC	c.(2332-2337)ggccccfs	p.GP778fs	ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.GP633fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000398590.3_Frame_Shift_Ins_p.GP778fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545																																							uc003dlw.3		NA																	0					0						c.(2332-2334)GGCfs		ataxin 7 isoform a																																				SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981831_63981832insC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2340dupC	3.37:g.63981838_63981838dupC	ENSP00000295900:p.Gly778fs					ATXN7_uc003dlv.2_Frame_Shift_Ins_p.G778fs|ATXN7_uc010hnv.2_Frame_Shift_Ins_p.G778fs|ATXN7_uc011bfn.1_Frame_Shift_Ins_p.G633fs	p.G778fs	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2886_2887	+		Prostate(884;0.0181)	778			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Ins	INS	ENST00000295900.6	37	c.2333_2334insC	CCDS43102.1																																																																																				0.545	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		10	167	NA	NA	NA	NA	NA	10	167	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G	rs370810362		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:113375177_113375178insG	ENST00000478658.1	-	5	5368_5369	c.5351_5352insC	c.(5350-5352)ccafs	p.P1784fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.P1784fs			Q68DE3	K2018_HUMAN	KIAA2018	1784						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426																																							uc003eam.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5350-5352)CCAfs		hypothetical protein LOC205717																																				SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375177_113375178insG	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5352dupC	3.37:g.113375183_113375183dupG	ENSP00000420721:p.Pro1784fs					KIAA2018_uc003eal.2_Frame_Shift_Ins_p.P1728fs	p.P1784fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	5762_5763	-			1784					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	c.5351_5352insC	CCDS43133.1																																																																																				0.426	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	587	NA	NA	NA	NA	NA	7	587	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:118647520_118647521insG	ENST00000393775.2	-	3	564_565	c.259_260insC	c.(259-261)cggfs	p.R87fs	IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.R87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000354673.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.R87fs	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465																																							uc003ebw.2		NA																	0					0						c.(259-261)CGGfs		immunoglobulin superfamily, member 11 isoform b																																				SO:0001589	frameshift_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118647520_118647521insG	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.260dupC	3.37:g.118647526_118647526dupG	ENSP00000377370:p.Arg87fs					IGSF11_uc011biv.1_Frame_Shift_Ins_p.R87fs|IGSF11_uc003ebx.2_Frame_Shift_Ins_p.R87fs|IGSF11_uc003eby.2_Frame_Shift_Ins_p.R86fs|IGSF11_uc003ebz.2_Frame_Shift_Ins_p.R86fs|IGSF11_uc010hqs.2_Frame_Shift_Ins_p.R86fs	p.R87fs	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			3	506_507	-			87			Ig-like V-type.|Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Frame_Shift_Ins	INS	ENST00000393775.2	37	c.259_260insC	CCDS46891.1																																																																																				0.465	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			7	660	NA	NA	NA	NA	NA	7	660	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119885959	119885960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:119885959_119885960insC	ENST00000464295.1	-	10	2809_2810	c.2364_2365insG	c.(2362-2367)gggctgfs	p.L789fs	GPR156_ENST00000315843.3_Frame_Shift_Ins_p.L789fs|GPR156_ENST00000461057.1_Frame_Shift_Ins_p.L785fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	789						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGGAAGCCAGCCCCCCAGTAG	0.55																																							uc011bjf.1		NA																	0				ovary(1)|skin(1)	2						c.(2362-2367)GGGCTGfs		G protein-coupled receptor 156																																				SO:0001589	frameshift_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119885959_119885960insC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2365dupG	3.37:g.119885965_119885965dupC	ENSP00000417261:p.Leu789fs					GPR156_uc011bjg.1_Frame_Shift_Ins_p.G784fs	p.G788fs	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	2364_2365	-			788_789			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Frame_Shift_Ins	INS	ENST00000464295.1	37	c.2364_2365insG	CCDS2997.1																																																																																				0.550	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		7	411	NA	NA	NA	NA	NA	7	411	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																							uc011bnd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1477-1479)CGGfs		G-protein-coupled receptor kinase 7 precursor																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs						p.R493fs	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			4	1561_1562	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		11	826	NA	NA	NA	NA	NA	11	826	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877785	150877786	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:150877785_150877786insC	ENST00000474524.1	+	7	1042_1043	c.1004_1005insC	c.(1003-1008)ggccccfs	p.GP335fs	MED12L_ENST00000309237.4_Frame_Shift_Ins_p.GP335fs|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.GP335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGCC	0.584																																							uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1003-1005)GGCfs		mediator of RNA polymerase II transcription,																																				SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877785_150877786insC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1011dupC	3.37:g.150877792_150877792dupC	ENSP00000417235:p.Gly335fs					MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Frame_Shift_Ins_p.G335fs|MED12L_uc003eyo.2_Frame_Shift_Ins_p.G335fs	p.G335fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1042_1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Ins	INS	ENST00000474524.1	37	c.1004_1005insC	CCDS33876.1																																																																																				0.584	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	105	NA	NA	NA	NA	NA	8	105	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167728581	167728581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:167728581delT	ENST00000470487.1	-	15	2580	c.1891delA	c.(1891-1893)aggfs	p.R631fs	GOLIM4_ENST00000309027.4_Frame_Shift_Del_p.R603fs	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	631	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCAGTTCCCTTTTTTTCTCT	0.358																																							uc003ffe.2		NA																	0				breast(4)|skin(1)	5						c.(1891-1893)AGGfs		golgi integral membrane protein 4							156.0	155.0	155.0					3																	167728581		2203	4300	6503	SO:0001589	frameshift_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167728581delT	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1891delA	3.37:g.167728581delT	ENSP00000417354:p.Arg631fs					GOLIM4_uc011bpe.1_Frame_Shift_Del_p.R632fs|GOLIM4_uc011bpf.1_Frame_Shift_Del_p.R604fs|GOLIM4_uc011bpg.1_Frame_Shift_Del_p.R603fs	p.R631fs	NM_014498	NP_055313	O00461	GOLI4_HUMAN			15	2235	-			631			Glu-rich.|Lumenal (Potential).			Frame_Shift_Del	DEL	ENST00000470487.1	37	c.1891delA	CCDS3204.1																																																																																				0.358	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			10	567	NA	NA	NA	NA	NA	10	567	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																							uc003fgd.2		NA																	0				skin(1)	1						c.(940-945)ATTGGGfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs					SAMD7_uc003fge.2_Frame_Shift_Ins_p.I314fs|SAMD7_uc011bpo.1_Frame_Shift_Ins_p.I215fs	p.I314fs	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1209_1210	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314_315						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		8	531	NA	NA	NA	NA	NA	8	531	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3162)gtccccfs	p.VP1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.VP1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.VP1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					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)			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)		ACCAAAAGTGTCCCCCCCACCA	0.47																																							uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(3157-3159)GTCfs		fibronectin type III domain containing 3B																																				SO:0001589	frameshift_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096209_172096210insC	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.3165dupC	3.37:g.172096216_172096216dupC	ENSP00000338523:p.Val1053fs					FNDC3B_uc003fhz.3_Frame_Shift_Ins_p.V1053fs	p.V1053fs	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)	24	3330_3331	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1053					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	ENST00000336824.4	37	c.3158_3159insC	CCDS3217.1																																																																																				0.470	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	182	NA	NA	NA	NA	NA	7	182	---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176769341	176769342	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:176769341_176769342insT	ENST00000430069.1	-	5	636_637	c.377_378insA	c.(376-378)aatfs	p.N126fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.N126fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	126					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGTTTTCTCCATTTTTTGCAGA	0.416																																							uc003fiw.3		NA																	0				ovary(1)	1						c.(376-378)AATfs		transducin (beta)-like 1 X-linked receptor 1																																				SO:0001589	frameshift_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769341_176769342insT	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.378dupA	3.37:g.176769347_176769347dupT	ENSP00000405574:p.Asn126fs					TBL1XR1_uc003fix.3_Frame_Shift_Ins_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Ins_p.N126fs	p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	637_638	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	126					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Frame_Shift_Ins	INS	ENST00000430069.1	37	c.377_378insA	CCDS46961.1																																																																																				0.416	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		7	208	NA	NA	NA	NA	NA	7	208	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																							uc003fmg.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(757-759)GCCfs		ATP-binding cassette, sub-family C, member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Frame_Shift_Ins_p.A253fs	p.A253fs	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	922_923	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		7	331	NA	NA	NA	NA	NA	7	331	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186370136	186370137	+	Frame_Shift_Ins	INS	-	-	C	rs540157028		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:186370136_186370137insC	ENST00000265029.3	+	7	966_967	c.865_866insC	c.(865-867)accfs	p.T289fs	FETUB_ENST00000539949.1_Frame_Shift_Ins_p.T141fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.T224fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.T289fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.T252fs|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495																																							uc010hyq.2		NA																	0				ovary(1)|lung(1)	2						c.(865-867)ACCfs		fetuin B precursor																																				SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370136_186370137insC	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.872dupC	3.37:g.186370143_186370143dupC	ENSP00000265029:p.Thr289fs					FETUB_uc011brz.1_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqn.2_Frame_Shift_Ins_p.T289fs|FETUB_uc003fqo.2_Frame_Shift_Ins_p.T184fs|FETUB_uc010hyr.2_Frame_Shift_Ins_p.T252fs|FETUB_uc010hys.2_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqp.3_Frame_Shift_Ins_p.T224fs	p.T289fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	8	1126_1127	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		289					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Ins	INS	ENST00000265029.3	37	c.865_866insC	CCDS3279.1																																																																																				0.495	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		22	305	NA	NA	NA	NA	NA	22	305	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:197427914_197427915insG	ENST00000296343.5	-	7	829_830	c.830_831insC	c.(829-831)ccafs	p.P277fs	KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.P277fs|KIAA0226_ENST00000273582.5_Frame_Shift_Ins_p.P217fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.P277fs	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554																																					Esophageal Squamous(3;167 355 3763 15924)	Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.(829-831)CCAfs		hypothetical protein LOC9711 isoform 2.																																				SO:0001589	frameshift_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427914_197427915insG	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.831dupC	3.37:g.197427921_197427921dupG	ENSP00000296343:p.Pro277fs					KIAA0226_uc003fyd.3_Frame_Shift_Ins_p.P217fs|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Frame_Shift_Ins_p.P110fs|KIAA0226_uc003fyg.2_Frame_Shift_Ins_p.P270fs	p.P277fs	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1013_1014	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		277			Ser-rich.		Q96CK5	Frame_Shift_Ins	INS	ENST00000296343.5	37	c.830_831insC	CCDS43195.1																																																																																				0.554	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		7	214	NA	NA	NA	NA	NA	7	214	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5785361	5785362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:5785361_5785362insC	ENST00000264956.6	+	12	1830_1831	c.1646_1647insC	c.(1645-1650)ctccccfs	p.LP549fs	EVC_ENST00000382674.2_Frame_Shift_Ins_p.LP549fs	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	549					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGACTGGCCTCCCCCCGGAAG	0.584																																							uc003gil.1		NA																	0				ovary(1)|skin(1)	2						c.(1645-1647)CTCfs		Ellis van Creveld syndrome protein																																				SO:0001589	frameshift_variant	2121				muscle organ development	integral to membrane		g.chr4:5785361_5785362insC	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1652dupC	4.37:g.5785367_5785367dupC	ENSP00000264956:p.Leu549fs					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.L549fs	NM_153717	NP_714928	P57679	EVC_HUMAN			12	1830_1831	+		Myeloproliferative disorder(84;0.117)	549						Frame_Shift_Ins	INS	ENST00000264956.6	37	c.1646_1647insC	CCDS3383.1																																																																																				0.584	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			12	670	NA	NA	NA	NA	NA	12	670	---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C	rs551838879		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:27019446_27019447insC	ENST00000467011.1	+	11	2028_2029	c.1603_1604insC	c.(1603-1605)gccfs	p.A535fs	STIM2_ENST00000465503.1_Frame_Shift_Ins_p.A543fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.A535fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.A622fs|STIM2_ENST00000382009.3_Frame_Shift_Ins_p.A630fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.A622fs	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535	His/Pro-rich.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619																																							uc003gsh.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1888-1890)GCCfs		stromal interaction molecule 2																																				SO:0001589	frameshift_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019446_27019447insC	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1609dupC	4.37:g.27019452_27019452dupC	ENSP00000419383:p.Ala535fs					STIM2_uc003gsg.3_Frame_Shift_Ins_p.A622fs|STIM2_uc010iex.2_Frame_Shift_Ins_p.A622fs|STIM2_uc010iey.2_Frame_Shift_Ins_p.A246fs	p.A630fs	NM_020860	NP_065911	Q9P246	STIM2_HUMAN			12	2104_2105	+		Breast(46;0.0503)	535			Cytoplasmic (Potential).|His/Pro-rich.		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Frame_Shift_Ins	INS	ENST00000467011.1	37	c.1888_1889insC	CCDS54752.1																																																																																				0.619	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		7	509	NA	NA	NA	NA	NA	7	509	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79173612	79173613	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:79173612_79173613insC	ENST00000325942.6	+	5	816_817	c.376_377insC	c.(376-378)accfs	p.T126fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T126fs|FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.T126fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	126	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTCCGATGTACCCCCCAACCA	0.525																																							uc003hlb.2		NA																	0				large_intestine(5)	5						c.(376-378)ACCfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79173612_79173613insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.382dupC	4.37:g.79173618_79173618dupC	ENSP00000326330:p.Thr126fs					FRAS1_uc003hkw.2_Frame_Shift_Ins_p.T126fs|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'Flank	p.T126fs	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			5	816_817	+			126			VWFC 2.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.376_377insC	CCDS54772.1																																																																																				0.525	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			12	385	NA	NA	NA	NA	NA	12	385	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:85611708_85611709delCA	ENST00000295888.4	-	61	9720_9721	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.W3088fs|RN7SL552P_ENST00000462094.2_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105	Interaction with ATG5.|Interaction with SQSTM1.				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)			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)		GCCCATCTCCCACACACACACA	0.51																																							uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(9313-9315)TGGfs		WD repeat and FYVE domain containing 3 isoform																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611708_85611709delCA	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.9313_9314delTG	4.37:g.85611718_85611719delCA	ENSP00000295888:p.Trp3105fs						p.W3105fs	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	61	9721_9722	-		Hepatocellular(203;0.114)	3105			WD 1.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.9313_9314delTG	CCDS3609.1																																																																																				0.510	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		9	425	NA	NA	NA	NA	NA	9	425	---	---	---	---
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs376137682|rs150450599	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)aacfs	p.N158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.N158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	158	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TAATCCGTTCGTTTTTTTCATG	0.426																																							uc003hrg.2		NA																	0				central_nervous_system(1)	1						c.(472-474)AACfs		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)																																			SO:0001589	frameshift_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052270_89052271insT	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.474dupA	4.37:g.89052277_89052277dupT	ENSP00000237612:p.Asn158fs					ABCG2_uc003hrh.2_Frame_Shift_Ins_p.N158fs|ABCG2_uc003hrf.2_Frame_Shift_Ins_p.N28fs	p.N158fs	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	966_967	-		Hepatocellular(203;0.114)	158			ABC transporter.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Frame_Shift_Ins	INS	ENST00000237612.3	37	c.473_474insA	CCDS3628.1																																																																																				0.426	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		9	1129	NA	NA	NA	NA	NA	9	1129	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	Colon(86;1802 1843 17863 46794)	uc003hte.1		NA																	0				ovary(1)	1						c.(409-414)GGGAGAfs		prostaglandin D2 synthase, hematopoietic	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs						p.G137fs	NM_014485	NP_055300	O60760	HPGDS_HUMAN			5	502_503	-			137_138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		11	1050	NA	NA	NA	NA	NA	11	1050	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																							uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1471-1473)CAAfs		unc5C precursor																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs					UNC5C_uc010ilc.1_Frame_Shift_Ins_p.Q510fs|UNC5C_uc003htq.2_Frame_Shift_Ins_p.Q510fs	p.Q491fs	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1625_1626	-		Hepatocellular(203;0.114)	491			Cytoplasmic (Potential).		Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		7	552	NA	NA	NA	NA	NA	7	552	---	---	---	---
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)gaafs	p.E548fs	CFI_ENST00000394635.3_Frame_Shift_Ins_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Ins_p.E541fs	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465																																							uc003hzr.3		NA																	0					0						c.(1642-1644)GAAfs		complement factor I preproprotein																																				SO:0001589	frameshift_variant	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662158_110662159insC	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1643dupG	4.37:g.110662164_110662164dupC	ENSP00000378130:p.Glu548fs					CFI_uc003hzq.2_Frame_Shift_Ins_p.E345fs|CFI_uc011cft.1_Frame_Shift_Ins_p.E556fs|CFI_uc003hzs.3_Frame_Shift_Ins_p.E541fs	p.E548fs	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1850_1851	-		Hepatocellular(203;0.217)	548			Peptidase S1.		O60442	Frame_Shift_Ins	INS	ENST00000394634.2	37	c.1642_1643insG	CCDS34049.1																																																																																				0.465	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		14	566	NA	NA	NA	NA	NA	14	566	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C	rs370906961		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(817-819)cccfs	p.P273fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	273					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416																																							uc003hzv.2		NA																	0				ovary(1)	1						c.(814-819)CCTCCCfs		peropsin				5,4261		0,5,2128						-0.4	1.0			137	0,8252		0,0,4126	no	frameshift	RRH	NM_006583.2		0,5,6254	A1A1,A1R,RR		0.0,0.1172,0.0399				5,12513				SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110763720_110763721insC	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.822dupC	4.37:g.110763726_110763726dupC	ENSP00000314992:p.Pro273fs						p.P272fs	NM_006583	NP_006574	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	6	850_851	+		Hepatocellular(203;0.217)	272_273			Helical; Name=7; (Potential).		A1A4V2|Q7RTS4	Frame_Shift_Ins	INS	ENST00000317735.4	37	c.816_817insC	CCDS3687.1																																																																																				0.416	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		8	585	NA	NA	NA	NA	NA	8	585	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)gggaaafs	p.K1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.K1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391																																							uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(3811-3816)GGGAAAfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125590618_125590619insC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3814dupG	4.37:g.125590624_125590624dupC	ENSP00000425658:p.Lys1272fs					ANKRD50_uc011cgo.1_Frame_Shift_Ins_p.G1092fs|ANKRD50_uc010inw.2_Frame_Shift_Ins_p.G1271fs	p.G1271fs	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	4079_4080	-			1271_1272			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.3813_3814insG	CCDS34060.1																																																																																				0.391	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		11	650	NA	NA	NA	NA	NA	11	650	---	---	---	---
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	-	G	rs368140697		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:140432891_140432892insG	ENST00000274031.3	-	8	1662_1663	c.1026_1027insC	c.(1024-1029)cccgggfs	p.G343fs	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	343					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTGT	0.609																																							uc003ihw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1024-1029)CCCGGGfs		SET domain-containing protein 7																																				SO:0001589	frameshift_variant	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140432891_140432892insG	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.1027dupC	4.37:g.140432898_140432898dupG	ENSP00000274031:p.Gly343fs						p.P342fs	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN			8	1312_1313	-	all_hematologic(180;0.156)		342_343					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Frame_Shift_Ins	INS	ENST00000274031.3	37	c.1026_1027insC	CCDS3748.1																																																																																				0.609	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		13	136	NA	NA	NA	NA	NA	13	136	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152095943	152095944	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:152095943_152095944insG	ENST00000409252.2	-	6	1279_1280	c.572_573insC	c.(571-573)ccafs	p.P191fs	SH3D19_ENST00000409598.4_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.P191fs|SH3D19_ENST00000604030.1_5'Flank			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	191	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GAACTGGAACTGGGGGGTTGGC	0.559																																							uc010ipl.1		NA																	0				ovary(1)|skin(1)	2						c.(571-573)CCAfs		SH3 domain containing 19 isoform a																																				SO:0001589	frameshift_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152095943_152095944insG	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.573dupC	4.37:g.152095949_152095949dupG	ENSP00000386848:p.Pro191fs					SH3D19_uc003imc.2_Frame_Shift_Ins_p.P191fs|SH3D19_uc003ime.2_Frame_Shift_Ins_p.P191fs|SH3D19_uc010ipm.2_Frame_Shift_Ins_p.P191fs	p.P191fs	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			7	1662_1663	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	191			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Frame_Shift_Ins	INS	ENST00000409252.2	37	c.572_573insC	CCDS34077.2																																																																																				0.559	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		7	909	NA	NA	NA	NA	NA	7	909	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																							uc003ioj.2		NA																	0					0						c.(1288-1290)GGAfs		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs					FGG_uc003iog.2_Frame_Shift_Ins_p.G430fs|FGG_uc003ioh.2_Frame_Shift_Ins_p.G438fs|FGG_uc010ipx.2_Frame_Shift_Ins_p.G258fs|FGG_uc010ipy.2_Frame_Shift_Ins_p.G141fs|FGG_uc003ioi.2_Frame_Shift_Ins_p.G141fs|FGG_uc003iok.2_Frame_Shift_Ins_p.G438fs	p.G430fs	NM_021870	NP_068656	P02679	FIBG_HUMAN			9	1430_1431	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		10	697	NA	NA	NA	NA	NA	10	697	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2079)atggggfs	p.MG692fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.MG692fs|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										GGCGTTTGCATGGGGGGGACGT	0.589																																							uc003ivd.1		NA																	0					0						c.(2074-2076)ATGfs		odz, odd Oz/ten-m homolog 3																																				SO:0001589	frameshift_variant	55714				signal transduction	integral to membrane		g.chr4:183609358_183609359insG	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.2082dupG	4.37:g.183609365_183609365dupG	ENSP00000424226:p.Met692fs					ODZ3_uc003ive.1_Frame_Shift_Ins_p.M98fs	p.M692fs	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)	11	2112_2113	+		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)	692			Extracellular (Potential).|EGF-like 6.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Ins	INS	ENST00000511685.1	37	c.2075_2076insG	CCDS47165.1																																																																																				0.589	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			20	494	NA	NA	NA	NA	NA	20	494	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:186515043_186515044insC	ENST00000284776.7	-	19	3639_3640	c.3130_3131insG	c.(3130-3132)gaafs	p.E1044fs	SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.E605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.E768fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.E588fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.E1144fs|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.E1044fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.E675fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.E948fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356																																					Esophageal Squamous(153;41 2433 9491 36028)	Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	4	Insertion - Frameshift(4)		haematopoietic_and_lymphoid_tissue(4)	ovary(1)	1						c.(3130-3132)GAAfs		sorbin and SH3 domain containing 2 isoform 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515043_186515044insC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3131dupG	4.37:g.186515050_186515050dupC	ENSP00000284776:p.Glu1044fs					SORBS2_uc003iyh.2_Frame_Shift_Ins_p.E768fs|SORBS2_uc011ckw.1_Frame_Shift_Ins_p.E605fs|SORBS2_uc003iyi.2_Frame_Shift_Ins_p.E675fs|SORBS2_uc011ckx.1_Frame_Shift_Ins_p.E610fs|SORBS2_uc003iyk.2_Frame_Shift_Ins_p.E588fs|SORBS2_uc003iym.2_Frame_Shift_Ins_p.E1144fs|SORBS2_uc003iyn.1_Frame_Shift_Ins_p.E635fs|SORBS2_uc011cku.1_Frame_Shift_Ins_p.E436fs|SORBS2_uc011ckv.1_Frame_Shift_Ins_p.E948fs|SORBS2_uc003iyd.2_Frame_Shift_Ins_p.E743fs|SORBS2_uc003iye.2_Frame_Shift_Ins_p.E617fs|SORBS2_uc003iya.2_Frame_Shift_Ins_p.E564fs|SORBS2_uc003iyb.2_Frame_Shift_Ins_p.E517fs|SORBS2_uc003iyc.2_Frame_Shift_Ins_p.E497fs|SORBS2_uc003iyg.2_Frame_Shift_Ins_p.E1158fs|SORBS2_uc003iyf.2_Frame_Shift_Ins_p.E580fs	p.E1044fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	19	3988_3989	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.3130_3131insG	CCDS3845.1																																																																																				0.356	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	167	NA	NA	NA	NA	NA	8	167	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																							uc003iyq.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(31-33)TGGfs		toll-like receptor 3 precursor																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs						p.W11fs	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	132_133	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			7	252	NA	NA	NA	NA	NA	7	252	---	---	---	---
C7	730	broad.mit.edu	37	5	40931243	40931243	+	Splice_Site	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:40931243delT	ENST00000313164.9	+	3	497		c.e3+2			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AAGACTCAGGTAGGACCATGC	0.408																																							uc003jmh.2		NA																	0					0						c.e3+2		complement component 7 precursor							94.0	89.0	91.0					5																	40931243		1874	4120	5994	SO:0001630	splice_region_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40931243delT	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.138+2T>-	5.37:g.40931243delT						C7_uc011cpn.1_Splice_Site	p.Q46_splice	NM_000587	NP_000578	P10643	CO7_HUMAN			3	252	+		Ovarian(839;0.0112)						Q6P3T5|Q92489	Splice_Site	DEL	ENST00000313164.9	37	c.138_splice	CCDS47201.1																																																																																				0.408	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		Intron	45	119	NA	NA	NA	NA	NA	45	119	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Frame_Shift_Ins_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.5																																							uc003jmk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1783-1785)CAAfs		complement component 6 precursor																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159256_41159257insG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1784dupC	5.37:g.41159262_41159262dupG	ENSP00000263413:p.Gln595fs					C6_uc003jml.1_Frame_Shift_Ins_p.Q595fs	p.Q595fs	NM_000065	NP_000056	P13671	CO6_HUMAN			12	1993_1994	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.1783_1784insC	CCDS3936.1																																																																																				0.500	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	413	NA	NA	NA	NA	NA	7	413	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																							uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7	GRCh37	CD982526	C6	D		c.(826-831)GGGAGCfs		complement component 6 precursor																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_uc003jml.1_Frame_Shift_Ins_p.G276fs	p.G276fs	NM_000065	NP_000056	P13671	CO6_HUMAN			7	1038_1039	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	276_277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			10	299	NA	NA	NA	NA	NA	10	299	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000499459.2_RNA	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																							uc011cqf.1		NA																	0					0	GRCh37	CI992095	MOCS2	I		c.(250-255)CCCATTfs		molybdopterin synthase small subunit MOCS2A																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs					MOCS2_uc003joz.2_Frame_Shift_Ins_p.P22fs|uc003jpb.1_5'Flank	p.P84fs	NM_176806	NP_789776	O96033	MOC2A_HUMAN			3	291_292	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	84_85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		7	151	NA	NA	NA	NA	NA	7	151	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5893-5895)AGCfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs					MAP1B_uc010iyw.1_Frame_Shift_Ins_p.S1982fs|MAP1B_uc010iyx.1_Frame_Shift_Ins_p.S1839fs|MAP1B_uc010iyy.1_Frame_Shift_Ins_p.S1839fs	p.S1965fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6135_6136	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965			MAP1B 6.		A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		14	440	NA	NA	NA	NA	NA	14	440	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggcgtfs	p.R312fs	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.R265fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCCCTGACGCCCCCCGTTTC	0.53																																							uc003kls.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(931-936)GGGCGTfs		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746639_95746640insC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.934dupG	5.37:g.95746645_95746645dupC	ENSP00000308024:p.Arg312fs					PCSK1_uc010jbi.1_Intron	p.G311fs	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1139_1140	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	311_312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Frame_Shift_Ins	INS	ENST00000311106.3	37	c.933_934insG	CCDS4081.1																																																																																				0.530	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		7	408	NA	NA	NA	NA	NA	7	408	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98193965	98193966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:98193965_98193966insT	ENST00000284049.3	-	34	4854_4855	c.4705_4706insA	c.(4705-4707)agtfs	p.S1569fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1569					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCTGGAATCACTTTTTTTGTAA	0.406																																							uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(4705-4707)AGTfs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98193965_98193966insT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4706dupA	5.37:g.98193972_98193972dupT	ENSP00000284049:p.Ser1569fs					CHD1_uc010jbn.2_Frame_Shift_Ins_p.S295fs	p.S1569fs	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	34	4853_4854	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1569					Q17RZ3	Frame_Shift_Ins	INS	ENST00000284049.3	37	c.4705_4706insA	CCDS34204.1																																																																																				0.406	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		7	754	NA	NA	NA	NA	NA	7	754	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7657-7662)GGGTTTfs		fibrillin 2 precursor																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs						p.G2553fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	60	8098_8099	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2553_2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	439	NA	NA	NA	NA	NA	7	439	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																							uc003kuu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4867-4869)CCTfs		fibrillin 2 precursor																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs						p.P1623fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5307_5308	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	1132	NA	NA	NA	NA	NA	9	1132	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141051692	141051693	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:141051692_141051693insC	ENST00000239440.4	-	10	1626_1627	c.1561_1562insG	c.(1561-1563)gtgfs	p.V521fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.V183fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.V443fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	521	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCAGATGACCACCCCCAAATTG	0.609																																							uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(1561-1563)GTGfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051692_141051693insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1562dupG	5.37:g.141051697_141051697dupC	ENSP00000239440:p.Val521fs					ARAP3_uc011dbe.1_Frame_Shift_Ins_p.V183fs|ARAP3_uc003lln.2_Frame_Shift_Ins_p.V443fs|ARAP3_uc003llo.1_Frame_Shift_Ins_p.V521fs	p.V521fs	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			10	1639_1640	-			521			Arf-GAP.|C4-type.		B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.1561_1562insG	CCDS4266.1																																																																																				0.609	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	1085	NA	NA	NA	NA	NA	8	1085	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150922939	150922940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:150922939_150922940insG	ENST00000261800.5	-	9	7760_7761	c.7748_7749insC	c.(7747-7749)ccafs	p.P2583fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2583	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2583fs*42(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAACTGTGGGGGGTTGTC	0.47																																							uc003lue.3		NA																	1	Deletion - Frameshift(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(7747-7749)CCAfs		FAT tumor suppressor 2 precursor																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922939_150922940insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7749dupC	5.37:g.150922945_150922945dupG	ENSP00000261800:p.Pro2583fs					GM2A_uc011dcs.1_Intron	p.P2583fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7761_7762	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2583			Extracellular (Potential).|Cadherin 22.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.7748_7749insC	CCDS4317.1																																																																																				0.470	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	438	NA	NA	NA	NA	NA	8	438	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																							uc003mtd.2		NA																	1	Deletion - Frameshift(1)		ovary(1)	breast(4)|ovary(2)|pancreas(1)	7						c.(25-27)CTTfs		Sec5 protein																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs					EXOC2_uc003mte.2_Frame_Shift_Ins_p.L9fs|EXOC2_uc011dho.1_Intron	p.L9fs	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	159_160	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		10	261	NA	NA	NA	NA	NA	10	261	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																							uc010jpc.2		NA																	0					0						c.(751-753)GTGfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs					PHACTR1_uc011dir.1_Frame_Shift_Ins_p.V320fs|PHACTR1_uc003nag.1_Frame_Shift_Ins_p.V251fs|PHACTR1_uc003nah.1_Frame_Shift_Ins_p.V251fs	p.V251fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		8	1084_1085	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		16	328	NA	NA	NA	NA	NA	16	328	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:17837307_17837308insC	ENST00000259711.6	-	11	1061_1062	c.956_957insG	c.(955-957)ggcfs	p.G319fs	KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378814.5_Frame_Shift_Ins_p.G319fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.45																																							uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(955-957)GGCfs		kinesin family member 13A isoform a																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837307_17837308insC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.957dupG	6.37:g.17837313_17837313dupC	ENSP00000259711:p.Gly319fs					KIF13A_uc003ncf.2_Frame_Shift_Ins_p.G319fs|KIF13A_uc003nch.3_Frame_Shift_Ins_p.G319fs|KIF13A_uc003nci.3_Frame_Shift_Ins_p.G319fs|KIF13A_uc003ncj.2_5'UTR	p.G319fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	1061_1062	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	319					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Ins	INS	ENST00000259711.6	37	c.956_957insG	CCDS47381.1																																																																																				0.450	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			9	225	NA	NA	NA	NA	NA	9	225	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																							uc003ndx.2		NA																	0				ovary(1)	1						c.(970-972)GCAfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs					DCDC2_uc003ndy.2_Frame_Shift_Ins_p.A324fs|DCDC2_uc003ndw.2_Frame_Shift_Ins_p.A75fs	p.A324fs	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			8	1272_1273	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		38	2550	NA	NA	NA	NA	NA	38	2550	---	---	---	---
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:30610713_30610714insC	ENST00000376485.4	+	10	923_924	c.893_894insC	c.(892-897)tgccccfs	p.CP298fs	ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000376483.4_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.CP286fs|ATAT1_ENST00000468713.1_Intron					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658																																							uc003nqu.2		NA																	0					0						c.(892-894)TGCfs		hypothetical protein LOC79969 isoform 2																																				SO:0001589	frameshift_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30610713_30610714insC	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"""alpha-tubulin N-acetyltransferase"""	615556	"""chromosome 6 open reading frame 134"""	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.899dupC	6.37:g.30610719_30610719dupC	ENSP00000365668:p.Cys298fs					C6orf134_uc003nqr.3_Frame_Shift_Ins_p.C298fs|C6orf134_uc003rdc.2_Frame_Shift_Ins_p.C298fs|C6orf134_uc003nqs.3_Frame_Shift_Ins_p.C275fs|C6orf134_uc003rdd.2_Frame_Shift_Ins_p.C275fs|C6orf134_uc003nqt.2_Intron|C6orf134_uc011dmm.1_Frame_Shift_Ins_p.C263fs|C6orf134_uc003nqv.2_Frame_Shift_Ins_p.C286fs	p.C298fs	NM_024909	NP_079185	Q5SQI0	ATAT_HUMAN			10	943_944	+			298						Frame_Shift_Ins	INS	ENST00000376485.4	37	c.893_894insC																																																																																					0.658	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		7	244	NA	NA	NA	NA	NA	7	244	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31500690	31500691	+	Splice_Site	INS	-	-	G	rs557956088	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:31500690_31500691insG	ENST00000396172.1	-	7	1366		c.e7-2		DDX39B_ENST00000376177.2_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site|DDX39B_ENST00000417556.2_Splice_Site|DDX39B_ENST00000458640.1_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site|DDX39B_ENST00000462421.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTCCATTGGCTgggggggagga	0.579																																							uc003ntt.2		NA																	0					0						c.e7-1		HLA-B associated transcript 1																																				SO:0001630	splice_region_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31500690_31500691insG	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.736-2->C	6.37:g.31500697_31500697dupG						BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Frame_Shift_Ins_p.Q52fs|BAT1_uc003nts.2_Splice_Site_p.P246_splice|BAT1_uc011dnn.1_Splice_Site_p.P168_splice|BAT1_uc003ntu.2_Splice_Site_p.P246_splice|BAT1_uc003ntv.2_Splice_Site_p.P246_splice	p.P246_splice	NM_004640	NP_004631	Q13838	DX39B_HUMAN			7	1367	-								B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Splice_Site	INS	ENST00000396172.1	37	c.736_splice	CCDS4697.1																																																																																				0.579	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	Intron	9	114	NA	NA	NA	NA	NA	9	114	---	---	---	---
HLA-DOA	3111	broad.mit.edu	37	6	32975278	32975279	+	Frame_Shift_Ins	INS	-	-	G	rs115076830		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:32975278_32975279insG	ENST00000229829.5	-	3	497_498	c.422_423insC	c.(421-423)cctfs	p.P141fs	HLA-DOA_ENST00000450833.2_Frame_Shift_Ins_p.P111fs|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	141	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TATTGATCACAGGGGGGAAGAT	0.584																																							uc003ocr.2		NA																	0					0						c.(421-423)CCTfs		major histocompatibility complex, class II, DO																																				SO:0001589	frameshift_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975278_32975279insG	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.423dupC	6.37:g.32975284_32975284dupG	ENSP00000229829:p.Pro141fs					HLA-DOA_uc010juj.2_Frame_Shift_Ins_p.P111fs|HLA-DOA_uc010jui.2_Frame_Shift_Ins_p.P141fs	p.P141fs	NM_002119	NP_002110	P06340	DOA_HUMAN			3	498_499	-			141			Extracellular (Potential).|Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Frame_Shift_Ins	INS	ENST00000229829.5	37	c.422_423insC	CCDS4763.1																																																																																				0.584	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		7	688	NA	NA	NA	NA	NA	7	688	---	---	---	---
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cctfs	p.P608fs	HCG25_ENST00000442228.1_RNA|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.P483fs	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.48																																							uc003odm.1		NA																	0				ovary(4)|skin(1)	5						c.(1822-1824)CCTfs		vacuolar protein sorting 52				85,12,3541		0,0,85,0,12,1722						1.8	1.0			76	107,10,7193		0,0,107,1,8,3539	no	codingComplex	VPS52	NM_022553.4		0,0,192,1,20,5261	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6005,2.6663,1.9547				192,22,10734				SO:0001589	frameshift_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33219719_33219720insG	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1824dupC	6.37:g.33219724_33219724dupG	ENSP00000409952:p.Pro608fs					VPS52_uc003odn.1_Frame_Shift_Ins_p.P419fs	p.P608fs	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			18	2033_2034	-			608					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Frame_Shift_Ins	INS	ENST00000445902.2	37	c.1823_1824insC	CCDS4770.2																																																																																				0.480	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		31	187	NA	NA	NA	NA	NA	31	187	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Intron	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:36068005_36068006insC	ENST00000229794.4	+	10	1150				MAPK14_ENST00000229795.3_Frame_Shift_Ins_p.P242fs|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	uc003olp.2		NA																	0				ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(721-726)ACACCCfs		mitogen-activated protein kinase 14 isoform 1																																				SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36068005_36068006insC	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2342->C	6.37:g.36068011_36068011dupC						MAPK14_uc003olo.2_Intron|MAPK14_uc003olq.2_Intron|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Intron	p.T241fs	NM_001315	NP_001306	Q16539	MK14_HUMAN			9	1204_1205	+			241_242			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Frame_Shift_Ins	INS	ENST00000229794.4	37	c.723_724insC	CCDS4816.1																																																																																				0.426	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		16	517	NA	NA	NA	NA	NA	16	517	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42237162	42237163	+	Frame_Shift_Ins	INS	-	-	G	rs140151920	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:42237162_42237163insG	ENST00000372922.4	-	5	728_729	c.166_167insC	c.(166-168)cacfs	p.H56fs	TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.H56fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.H56fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.H56fs|TRERF1_ENST00000541110.1_Frame_Shift_Ins_p.H56fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	56					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGAGGGAAGTGGGGGGAGATT	0.589																																							uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(166-168)CACfs		transcriptional regulating factor 1																																				SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42237162_42237163insG	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.167dupC	6.37:g.42237168_42237168dupG	ENSP00000362013:p.His56fs					TRERF1_uc011duq.1_Frame_Shift_Ins_p.H56fs|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Frame_Shift_Ins_p.H56fs	p.H56fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	729_730	-	Colorectal(47;0.196)		56					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Ins	INS	ENST00000372922.4	37	c.166_167insC	CCDS4867.1																																																																																				0.589	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	178	NA	NA	NA	NA	NA	7	178	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43111195	43111196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43111195_43111196insC	ENST00000230419.4	+	14	2309_2310	c.2088_2089insC	c.(2089-2091)cccfs	p.P697fs	PTK7_ENST00000352931.2_Frame_Shift_Ins_p.P641fs|PTK7_ENST00000481273.1_Frame_Shift_Ins_p.P705fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.P657fs|PTK7_ENST00000349241.2_Frame_Shift_Ins_p.P567fs	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGCAGCCCTCCCCCCTACAA	0.604											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003oub.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(2086-2091)CCTCCCfs		PTK7 protein tyrosine kinase 7 isoform a																																				SO:0001589	frameshift_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111195_43111196insC	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2094dupC	6.37:g.43111201_43111201dupC	ENSP00000230419:p.Pro697fs		OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_uc003ouc.1_Frame_Shift_Ins_p.P640fs|PTK7_uc003oud.1_Frame_Shift_Ins_p.P656fs|PTK7_uc003oue.1_Frame_Shift_Ins_p.P566fs|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Frame_Shift_Ins_p.P704fs|PTK7_uc010jyj.1_Intron	p.P696fs	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2286_2287	+			696_697			Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Frame_Shift_Ins	INS	ENST00000230419.4	37	c.2088_2089insC	CCDS4884.1																																																																																				0.604	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			8	205	NA	NA	NA	NA	NA	8	205	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)catfs	p.H147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554																																							uc003oyv.2		NA																	0					0						c.(439-441)CATfs		tumor necrosis factor receptor superfamily,																																				SO:0001589	frameshift_variant	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253988_47253989insG	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.440dupC	6.37:g.47253994_47253994dupG	ENSP00000296861:p.His147fs						p.H147fs	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		2	872_873	-			147			Extracellular (Potential).|TNFR-Cys 3.		B2RDI9|Q0D2P5|Q96D86	Frame_Shift_Ins	INS	ENST00000296861.2	37	c.439_440insC	CCDS4921.1																																																																																				0.554	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		9	765	NA	NA	NA	NA	NA	9	765	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																							uc003pcl.2		NA																	1	Deletion - Frameshift(1)		upper_aerodigestive_tract(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(25-27)TCCfs		orexin receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzu.1_RNA	p.S9fs	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	340_341	+	Lung NSC(77;0.107)|Renal(3;0.122)		9			Extracellular (Potential).		Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			10	234	NA	NA	NA	NA	NA	10	234	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																							uc003pli.2		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(793-795)ATCfs		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs						p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265			Cytoplasmic (By similarity).		E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		8	401	NA	NA	NA	NA	NA	8	401	---	---	---	---
WASF1	8936	broad.mit.edu	37	6	110423338	110423339	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:110423338_110423339insG	ENST00000392589.1	-	10	1810_1811	c.974_975insC	c.(973-975)ccafs	p.P325fs	WASF1_ENST00000392587.2_Frame_Shift_Ins_p.P325fs|WASF1_ENST00000392588.1_Frame_Shift_Ins_p.P325fs|WASF1_ENST00000392586.1_Frame_Shift_Ins_p.P325fs|WASF1_ENST00000359451.2_Frame_Shift_Ins_p.P325fs	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	325	Poly-Pro.				actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTGGAGGAGGTGGGGGAGTGGG	0.52																																							uc003ptv.1		NA																	0					0						c.(973-975)CCAfs		Wiskott-Aldrich syndrome protein family member																																				SO:0001589	frameshift_variant	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423338_110423339insG	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.975dupC	6.37:g.110423343_110423343dupG	ENSP00000376368:p.Pro325fs					WASF1_uc003ptw.1_Frame_Shift_Ins_p.P325fs|WASF1_uc003ptx.1_Frame_Shift_Ins_p.P325fs|WASF1_uc003pty.1_Frame_Shift_Ins_p.P325fs	p.P325fs	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	1811_1812	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	325			Poly-Pro.		E1P5F2|Q5SZK7	Frame_Shift_Ins	INS	ENST00000392589.1	37	c.974_975insC	CCDS5080.1																																																																																				0.520	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		7	754	NA	NA	NA	NA	NA	7	754	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																															uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(5653-5655)CCAfs	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs					REV3L_uc003pux.3_Frame_Shift_Ins_p.P1807fs|REV3L_uc003puz.3_Frame_Shift_Ins_p.P1807fs	p.P1885fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	5977_5978	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885			Mediates interaction with MAD2L2.		O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5654_5655insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		34	550	NA	NA	NA	NA	NA	34	550	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C	rs552318470		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2494-2496)cccfs	p.P832fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	832					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455																																							uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2491-2496)CTGCCCfs		regulatory factor X, 6																																				SO:0001589	frameshift_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117250016_117250017insC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2499dupC	6.37:g.117250022_117250022dupC	ENSP00000332208:p.Pro832fs						p.L831fs	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			18	2556_2557	+			831_832					Q5T6B3	Frame_Shift_Ins	INS	ENST00000332958.2	37	c.2493_2494insC	CCDS5113.1																																																																																				0.455	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		7	311	NA	NA	NA	NA	NA	7	311	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144782471	144782471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:144782471delA	ENST00000367545.3	+	21	2846	c.2846delA	c.(2845-2847)gaafs	p.E949fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	949					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCTGCAAGAAAAAAAGGTA	0.348																																							uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2845-2847)GAAfs		utrophin							120.0	129.0	126.0					6																	144782471		2203	4300	6503	SO:0001589	frameshift_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144782471delA	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2846delA	6.37:g.144782471delA	ENSP00000356515:p.Glu949fs					UTRN_uc010khq.1_Frame_Shift_Del_p.E949fs	p.E949fs	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	21	2938	+		Ovarian(120;0.218)	949					Q5SYY1|Q5SZ57|Q9UJ40	Frame_Shift_Del	DEL	ENST00000367545.3	37	c.2846delA	CCDS34547.1																																																																																				0.348	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			7	275	NA	NA	NA	NA	NA	7	275	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																							uc003qob.2		NA																	1	Deletion - Frameshift(1)		ovary(1)	ovary(3)|large_intestine(1)	4						c.(2755-2760)GACAAAfs		methylenetetrahydrofolate dehydrogenase (NADP+																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Frame_Shift_Ins_p.D920fs|MTHFD1L_uc003qoc.2_Frame_Shift_Ins_p.D867fs	p.D919fs	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3025_3026	+		Ovarian(120;0.128)	919_920			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		9	243	NA	NA	NA	NA	NA	9	243	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																							uc003tdh.2		NA																	0				central_nervous_system(13)|ovary(1)	14						c.(376-378)ATCfs		FK506 binding protein 9 precursor																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs					AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Frame_Shift_Ins_p.I179fs|FKBP9_uc003tdg.2_Frame_Shift_Ins_p.I126fs|FKBP9_uc010kwm.2_Frame_Shift_Ins_p.I33fs	p.I126fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	558_559	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		9	352	NA	NA	NA	NA	NA	9	352	---	---	---	---
NME8	51314	broad.mit.edu	37	7	37889877	37889878	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:37889877_37889878insA	ENST00000199447.4	+	3	381_382	c.9_10insA	c.(10-12)aaafs	p.K4fs	NME8_ENST00000440017.1_Frame_Shift_Ins_p.K4fs|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	4	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AAATGGCAAGCAAAAAACGAGA	0.317																																						Ovarian(108;903 1537 27096 29907 47400)	uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(7-12)AGCAAAfs		thioredoxin domain containing 3																																				SO:0001589	frameshift_variant	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37889877_37889878insA	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.15dupA	7.37:g.37889883_37889883dupA	ENSP00000199447:p.Lys4fs						p.S3fs	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			3	381_382	+			3_4			Thioredoxin.		Q9NZH1	Frame_Shift_Ins	INS	ENST00000199447.4	37	c.9_10insA	CCDS5452.1																																																																																				0.317	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		7	1218	NA	NA	NA	NA	NA	7	1218	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:40899961_40899962insC	ENST00000335693.4	+	14	1244_1245	c.1221_1222insC	c.(1222-1224)cccfs	p.P408fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Frame_Shift_Ins_p.P434fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.P360fs	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		408					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569																																							uc003thn.1		NA																	0				ovary(2)	2						c.(1198-1203)CCGCCCfs		dermal papilla derived protein 13																																				SO:0001589	frameshift_variant	79783						transferase activity	g.chr7:40899961_40899962insC																												ENST00000335693.4:c.1226dupC	7.37:g.40899966_40899966dupC	ENSP00000338475:p.Pro408fs					C7orf10_uc003thm.1_Frame_Shift_Ins_p.P396fs|C7orf10_uc003tho.1_Frame_Shift_Ins_p.P352fs|C7orf10_uc003thp.1_RNA	p.P400fs	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			14	1245_1246	+			407_408					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Frame_Shift_Ins	INS	ENST00000335693.4	37	c.1200_1201insC	CCDS55105.1																																																																																				0.569	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			8	999	NA	NA	NA	NA	NA	8	999	---	---	---	---
FKBP9P1	360132	broad.mit.edu	37	7	55759092	55759093	+	RNA	INS	-	-	G	rs3110924		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:55759092_55759093insG	ENST00000455909.1	-	0	0					NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						ACTGAGCAGTCGGGGGGTTTGT	0.525																																							uc010kzl.2		NA																	0					0						c.(187-192)CCCGACfs		SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8);																																						360132							g.chr7:55759092_55759093insG																													7.37:g.55759098_55759098dupG						FKBP9L_uc003tqt.2_5'Flank|FKBP9L_uc011kcs.1_5'Flank	p.P63fs	NR_003949						3	289_290	-								B2R7H1	Frame_Shift_Ins	INS	ENST00000455909.1	37	c.189_190insC																																																																																					0.525	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			11	318	NA	NA	NA	NA	NA	11	318	---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76828921	76828922	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:76828921_76828922insG	ENST00000248598.5	-	1	221_222	c.189_190insC	c.(187-192)cccttgfs	p.PL63fs	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	63						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGAATAGTCAAGGGGGGCAGGC	0.48																																							uc003ugb.2		NA																	0				skin(2)	2						c.(187-192)CCCTTGfs		fibrinogen-like 2 precursor																																				SO:0001589	frameshift_variant	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828921_76828922insG	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.190dupC	7.37:g.76828927_76828927dupG	ENSP00000248598:p.Pro63fs					CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	p.P63fs	NM_006682	NP_006673	Q14314	FGL2_HUMAN			1	229_230	-			63_64						Frame_Shift_Ins	INS	ENST00000248598.5	37	c.189_190insC	CCDS5591.1																																																																																				0.480	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		7	394	NA	NA	NA	NA	NA	7	394	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.P192fs|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	192					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)			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)					CCAGGACCGTGCCCCCCGACTT	0.564																																					GBM(52;969 1098 3139 52280)	GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(571-576)GTGCCCfs		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415681_86415682insC		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.579dupC	7.37:g.86415687_86415687dupC	ENSP00000355316:p.Pro192fs					GRM3_uc010lef.2_Frame_Shift_Ins_p.V189fs|GRM3_uc010leg.2_Frame_Shift_Ins_p.V63fs|GRM3_uc010leh.2_Intron	p.V191fs	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1672_1673	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191_192			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Ins	INS	ENST00000361669.2	37	c.573_574insC	CCDS5600.1																																																																																				0.564	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			7	337	NA	NA	NA	NA	NA	7	337	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92764820	92764820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:92764820delC	ENST00000318238.4	-	5	1681	c.465delG	c.(463-465)aagfs	p.K155fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K155fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K155fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	155					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGGTTTTAGCTTACCCTTTT	0.358																																							uc003umh.1		NA																	0				ovary(4)	4						c.(463-465)AAGfs		sterile alpha motif domain containing 9-like							245.0	247.0	247.0					7																	92764820		2203	4300	6503	SO:0001589	frameshift_variant	219285							g.chr7:92764820delC	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.465delG	7.37:g.92764820delC	ENSP00000326247:p.Lys155fs					SAMD9L_uc003umj.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc011khx.1_Intron	p.K155fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1681	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		155					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	ENST00000318238.4	37	c.465delG	CCDS34681.1																																																																																				0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		413	892	NA	NA	NA	NA	NA	413	892	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)accfs	p.T3364fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.T3353fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.T3335fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.54																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10090-10092)ACCfs		transformation/transcription domain-associated																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592294_98592295insC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10096dupC	7.37:g.98592300_98592300dupC	ENSP00000352925:p.Thr3364fs					TRRAP_uc011kis.1_Frame_Shift_Ins_p.T3335fs|TRRAP_uc003upr.2_Frame_Shift_Ins_p.T3070fs	p.T3364fs	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10299_10300	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3364					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.10090_10091insC	CCDS59066.1																																																																																				0.540	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	562	NA	NA	NA	NA	NA	7	562	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T	rs375737733		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)accfs	p.T487fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.T367fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.48																																							uc003uut.2		NA																	0					0						c.(1459-1461)ACCfs		zinc finger, CW type with PWWP domain 1																																				SO:0001589	frameshift_variant	55063						zinc ion binding	g.chr7:100000150_100000151insT	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1460dupA	7.37:g.100000156_100000156dupT	ENSP00000381109:p.Thr487fs					ZCWPW1_uc011kjq.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_uc003uur.2_Intron|ZCWPW1_uc003uus.2_Frame_Shift_Ins_p.T367fs|ZCWPW1_uc011kjr.1_Intron|ZCWPW1_uc011kjp.1_Intron	p.T487fs	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			16	1707_1708	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		487					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Frame_Shift_Ins	INS	ENST00000398027.2	37	c.1459_1460insA	CCDS43623.1																																																																																				0.480	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		13	3151	NA	NA	NA	NA	NA	13	3151	---	---	---	---
IMMP2L	83943	broad.mit.edu	37	7	111127376	111127377	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:111127376_111127377insC	ENST00000405709.2	-	3	598_599	c.156_157insG	c.(154-159)gggagcfs	p.S53fs	IMMP2L_ENST00000415362.1_Frame_Shift_Ins_p.S53fs|IMMP2L_ENST00000437687.1_Frame_Shift_Ins_p.S53fs|IMMP2L_ENST00000447215.1_Frame_Shift_Ins_p.S53fs|IMMP2L_ENST00000452895.1_Frame_Shift_Ins_p.S53fs|IMMP2L_ENST00000331762.3_Frame_Shift_Ins_p.S53fs	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	53					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GATGACTGGCTCCCCCCAGGAT	0.416																																							uc003vfq.1		NA																	0					0						c.(154-159)GGGAGCfs		IMP2 inner mitochondrial membrane protease-like																																				SO:0001589	frameshift_variant	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:111127376_111127377insC	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.157dupG	7.37:g.111127382_111127382dupC	ENSP00000384966:p.Ser53fs					IMMP2L_uc010ljr.1_Frame_Shift_Ins_p.G52fs|IMMP2L_uc003vfr.2_Frame_Shift_Ins_p.G52fs	p.G52fs	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	3	599_600	-			52_53					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Frame_Shift_Ins	INS	ENST00000405709.2	37	c.156_157insG	CCDS5753.1																																																																																				0.416	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		10	337	NA	NA	NA	NA	NA	10	337	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)cacfs	p.H720fs	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	720					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AATGATGATGTGGGGGGGATCC	0.505										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2158-2160)CACfs		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173277_126173278insG		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2159dupC	7.37:g.126173284_126173284dupG	ENSP00000344173:p.His720fs	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Frame_Shift_Ins_p.H720fs|GRM8_uc010lkz.1_RNA	p.H720fs	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2469_2470	-		Prostate(267;0.186)	720			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Frame_Shift_Ins	INS	ENST00000339582.2	37	c.2158_2159insC	CCDS5794.1																																																																																				0.505	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			7	120	NA	NA	NA	NA	NA	7	120	---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128610258_128610259insG	ENST00000265388.5	-	20	2684_2685	c.2541_2542insC	c.(2539-2544)ccctatfs	p.Y848fs	RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000393245.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485																																					Pancreas(147;583 2585 39696 52331)	Pancreas(147;583 2585 39696 52331)	uc003vol.1		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(2539-2544)CCCTATfs		transportin 3																																				SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610258_128610259insG	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2542dupC	7.37:g.128610265_128610265dupG	ENSP00000265388:p.Tyr848fs					TNPO3_uc010llx.1_Frame_Shift_Ins_p.P258fs|TNPO3_uc003vom.1_Frame_Shift_Ins_p.P781fs|TNPO3_uc010lly.1_Frame_Shift_Ins_p.P881fs|TNPO3_uc010llz.1_Frame_Shift_Ins_p.P783fs	p.P847fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			20	2915_2916	-			847_848					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Ins	INS	ENST00000265388.5	37	c.2541_2542insC	CCDS5809.1																																																																																				0.485	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		14	538	NA	NA	NA	NA	NA	14	538	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135047687	135047688	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:135047687_135047688insG	ENST00000451834.1	-	12	2365_2366	c.2082_2083insC	c.(2080-2085)cccagcfs	p.S695fs	CNOT4_ENST00000423368.2_Frame_Shift_Ins_p.S627fs|CNOT4_ENST00000541284.1_Frame_Shift_Ins_p.S698fs|CNOT4_ENST00000361528.4_Frame_Shift_Ins_p.S624fs|CNOT4_ENST00000473470.1_5'Flank			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGGGTTTTGCTGGGGGGTCTGA	0.53																																					Ovarian(51;766 1130 5502 35047 50875)	Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1		NA																	0					0						c.(2089-2094)CCCAGCfs		CCR4-NOT transcription complex, subunit 4																																				SO:0001589	frameshift_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047687_135047688insG	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2083dupC	7.37:g.135047693_135047693dupG	ENSP00000388491:p.Ser695fs					CNOT4_uc003vss.2_Frame_Shift_Ins_p.P623fs|CNOT4_uc011kpz.1_Frame_Shift_Ins_p.P694fs|CNOT4_uc003vst.2_Frame_Shift_Ins_p.P626fs	p.P697fs	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			11	2183_2184	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Ins	INS	ENST00000451834.1	37	c.2091_2092insC	CCDS55167.1																																																																																				0.530	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		10	479	NA	NA	NA	NA	NA	10	479	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135106950	135106951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:135106950_135106951insT	ENST00000315544.5	-	3	605_606	c.326_327insA	c.(325-327)aacfs	p.N109fs	CNOT4_ENST00000423368.2_Frame_Shift_Ins_p.N109fs|CNOT4_ENST00000356162.4_Frame_Shift_Ins_p.N109fs|CNOT4_ENST00000541284.1_Frame_Shift_Ins_p.N109fs|CNOT4_ENST00000428680.2_Frame_Shift_Ins_p.N109fs|CNOT4_ENST00000414802.1_Frame_Shift_Ins_p.N109fs|CNOT4_ENST00000361528.4_Frame_Shift_Ins_p.N109fs|CNOT4_ENST00000451834.1_Frame_Shift_Ins_p.N109fs	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	109	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTAC	0.356																																					Ovarian(51;766 1130 5502 35047 50875)	Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1		NA																	0					0						c.(325-327)AACfs		CCR4-NOT transcription complex, subunit 4																																				SO:0001589	frameshift_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106950_135106951insT	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.327dupA	7.37:g.135106957_135106957dupT	ENSP00000326731:p.Asn109fs					CNOT4_uc003vss.2_Frame_Shift_Ins_p.N109fs|CNOT4_uc011kpz.1_Frame_Shift_Ins_p.N109fs|CNOT4_uc003vst.2_Frame_Shift_Ins_p.N109fs|CNOT4_uc003vsu.1_Frame_Shift_Ins_p.N109fs|CNOT4_uc011kpy.1_Frame_Shift_Ins_p.N109fs	p.N109fs	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			3	633_634	-			109			RRM.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Ins	INS	ENST00000315544.5	37	c.326_327insA	CCDS55166.1																																																																																				0.356	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		7	409	NA	NA	NA	NA	NA	7	409	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																							uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1267-1272)GGGCCAfs		transient receptor potential cation channel,				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs						p.G423fs	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			10	1533_1534	-	Melanoma(164;0.059)		423_424			Helical; (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		12	670	NA	NA	NA	NA	NA	12	670	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)gggctafs	p.L642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.5																																							uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1921-1926)GGGCTAfs		Kell blood group, metallo-endopeptidase																																				SO:0001589	frameshift_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639979_142639980insC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1924dupG	7.37:g.142639985_142639985dupC	ENSP00000347409:p.Leu642fs						p.G641fs	NM_000420	NP_000411	P23276	KELL_HUMAN			17	2133_2134	-	Melanoma(164;0.059)		641_642			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Frame_Shift_Ins	INS	ENST00000355265.2	37	c.1923_1924insG	CCDS34766.1																																																																																				0.500	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		21	1089	NA	NA	NA	NA	NA	21	1089	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143633070	143633070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:143633070delG	ENST00000408955.2	+	1	812	c.745delG	c.(745-747)gccfs	p.A249fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CACGGTGGTTGCCCTGTGCTA	0.502																																							uc011ktv.1		NA																	0				ovary(3)|skin(1)	4						c.(745-747)GCCfs		olfactory receptor, family 2, subfamily F,							129.0	123.0	125.0					7																	143633070		2203	4300	6503	SO:0001589	frameshift_variant	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143633070delG		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.745delG	7.37:g.143633070delG	ENSP00000386222:p.Ala249fs						p.A249fs	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	745	+	Melanoma(164;0.0903)		249			Helical; Name=6; (Potential).		A4D2G0|Q6IFP8	Frame_Shift_Del	DEL	ENST00000408955.2	37	c.745delG	CCDS43666.1																																																																																				0.502	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			32	455	NA	NA	NA	NA	NA	32	455	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3216722	3216722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:3216722delG	ENST00000520002.1	-	22	3814	c.3259delC	c.(3259-3261)ctgfs	p.L1087fs	CSMD1_ENST00000537824.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.L1086fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1087	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCCACCCAGGCAGGTAAGC	0.552																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(3259-3261)CTGfs		CUB and Sushi multiple domains 1 precursor							67.0	73.0	71.0					8																	3216722		2203	4300	6503	SO:0001589	frameshift_variant	64478					integral to membrane		g.chr8:3216722delG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3259delC	8.37:g.3216722delG	ENSP00000430733:p.Leu1087fs					CSMD1_uc011kwj.1_Frame_Shift_Del_p.L479fs|CSMD1_uc003wqe.2_Frame_Shift_Del_p.L243fs	p.L1087fs	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	21	3649	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1087			Sushi 6.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37	c.3259delC																																																																																					0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		27	250	NA	NA	NA	NA	NA	27	250	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																							uc003wza.2		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(3)	3						c.(2860-2865)CCCGACfs		ADP-ribosylation factor guanine nucleotide																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs					PSD3_uc003wyx.3_Frame_Shift_Ins_p.P283fs|PSD3_uc003wyy.2_Frame_Shift_Ins_p.P420fs|PSD3_uc003wyz.2_Frame_Shift_Ins_p.P255fs	p.P954fs	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2965_2966	-			955_956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2862_2863insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		7	790	NA	NA	NA	NA	NA	7	790	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32614020	32614021	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:32614020_32614021insC	ENST00000405005.3	+	9	903_904	c.903_904insC	c.(904-906)cccfs	p.P302fs	NRG1_ENST00000519301.1_Frame_Shift_Ins_p.P252fs|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.P302fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.P299fs|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.P307fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Frame_Shift_Ins_p.P273fs|NRG1_ENST00000338921.4_Frame_Shift_Ins_p.P310fs|NRG1_ENST00000539990.1_Frame_Shift_Ins_p.P145fs|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.P299fs			Q02297	NRG1_HUMAN	neuregulin 1	302					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATCCTAACCCACCCCCCGAGAA	0.495																																							uc003xiv.2		NA																	0					0						c.(901-906)CCACCCfs		neuregulin 1 isoform HRG-alpha																																				SO:0001589	frameshift_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32614020_32614021insC	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.909dupC	8.37:g.32614026_32614026dupC	ENSP00000384620:p.Pro302fs					NRG1_uc011lbf.1_Frame_Shift_Ins_p.P298fs|NRG1_uc010lvo.2_Frame_Shift_Ins_p.P298fs|NRG1_uc003xiu.2_Frame_Shift_Ins_p.P306fs|NRG1_uc003xiw.2_Frame_Shift_Ins_p.P298fs|NRG1_uc003xit.2_Frame_Shift_Ins_p.P301fs|NRG1_uc010lvr.2_Frame_Shift_Ins_p.P43fs|NRG1_uc010lvs.2_Frame_Shift_Ins_p.P43fs|NRG1_uc010lvp.2_Frame_Shift_Ins_p.P255fs|NRG1_uc010lvq.2_Frame_Shift_Ins_p.P238fs|NRG1_uc011lbg.1_Frame_Shift_Ins_p.P147fs|NRG1_uc011lbh.1_Frame_Shift_Ins_p.P144fs|NRG1_uc003xja.2_Frame_Shift_Ins_p.P112fs	p.P301fs	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	9	1420_1421	+		Breast(100;0.203)	301_302			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Frame_Shift_Ins	INS	ENST00000405005.3	37	c.903_904insC	CCDS6085.1																																																																																				0.495	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			10	254	NA	NA	NA	NA	NA	10	254	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:35584019_35584020insG	ENST00000404895.2	+	10	1981_1982	c.1653_1654insG	c.(1654-1656)gggfs	p.G552fs	UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.G557fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.G485fs|UNC5D_ENST00000287272.2_Frame_Shift_Ins_p.G483fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.G128fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.G547fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	552	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411																																							uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1651-1656)TTAGGGfs		unc-5 homolog D precursor																																				SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35584019_35584020insG	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1659dupG	8.37:g.35584025_35584025dupG	ENSP00000385143:p.Gly552fs					UNC5D_uc003xjs.1_Frame_Shift_Ins_p.L546fs|UNC5D_uc003xju.1_Frame_Shift_Ins_p.L127fs|UNC5D_uc003xjt.1_Frame_Shift_Ins_p.L309fs	p.L551fs	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	1981_1982	+			551_552			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Frame_Shift_Ins	INS	ENST00000404895.2	37	c.1653_1654insG	CCDS6093.2																																																																																				0.411	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			9	533	NA	NA	NA	NA	NA	9	533	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																							uc003xpw.2		NA																	0					0						c.(37-39)GCCfs		protein kinase-like protein SgK196				3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs						p.A13fs	NM_032237	NP_115613	Q9H5K3	SG196_HUMAN			4	296_297	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		8	194	NA	NA	NA	NA	NA	8	194	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					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)			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)			GAGATGGAGGTGGGGGGGCAGT	0.421																																							uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(4654-4656)CCAfs		brefeldin A-inhibited guanine																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	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.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs					ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.1_Frame_Shift_Ins_p.P535fs	p.P1552fs	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)		33	5045_5046	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		20	392	NA	NA	NA	NA	NA	20	392	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G	rs201774043		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(217-219)gggfs	p.G73fs	SULF1_ENST00000402687.4_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.G73fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	73					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495																																							uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(214-219)CATGGGfs		sulfatase 1 precursor																																				SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488248_70488249insG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.223dupG	8.37:g.70488255_70488255dupG	ENSP00000260128:p.Gly73fs					SULF1_uc003xyd.2_Frame_Shift_Ins_p.H72fs|SULF1_uc003xye.2_Frame_Shift_Ins_p.H72fs|SULF1_uc003xyf.2_Frame_Shift_Ins_p.H72fs|SULF1_uc003xyg.2_Frame_Shift_Ins_p.H72fs	p.H72fs	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	933_934	+	Breast(64;0.0654)		72_73					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Ins	INS	ENST00000260128.4	37	c.216_217insG	CCDS6204.1																																																																																				0.495	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	130	NA	NA	NA	NA	NA	7	130	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																							uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1021-1023)CCTfs		sulfatase 1 precursor							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_uc003xyd.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xye.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyh.1_RNA	p.P341fs	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	2419	NA	NA	NA	NA	NA	7	2419	---	---	---	---
LY96	23643	broad.mit.edu	37	8	74903692	74903693	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:74903692_74903693insT	ENST00000284818.2	+	1	106_107	c.15_16insT	c.(16-18)tttfs	p.F6fs	LY96_ENST00000518893.1_Frame_Shift_Ins_p.F6fs	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	6					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 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)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TACCATTTCTGTTTTTTTCCAC	0.366																																					GBM(131;1357 1748 34893 50149 52212)	GBM(131;1357 1748 34893 50149 52212)	uc003yad.2		NA																	0					0						c.(13-18)CTGTTTfs		MD-2 protein precursor																																				SO:0001589	frameshift_variant	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74903692_74903693insT	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.22dupT	8.37:g.74903699_74903699dupT	ENSP00000284818:p.Phe6fs						p.L5fs	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		1	106_107	+	Breast(64;0.0311)		5_6					B3Y6A5|E5RJJ7	Frame_Shift_Ins	INS	ENST00000284818.2	37	c.15_16insT	CCDS6216.1																																																																																				0.366	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		8	870	NA	NA	NA	NA	NA	8	870	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92261931	92261932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:92261931_92261932insC	ENST00000276609.3	+	2	291_292	c.52_53insC	c.(52-54)accfs	p.T18fs	SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.T18fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.T18fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGATGCATACCCCCCAGTGT	0.396																																							uc003yex.2		NA																	0				ovary(2)	2						c.(52-54)ACCfs		solute carrier family 26, member 7 isoform a																																				SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92261931_92261932insC	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.58dupC	8.37:g.92261937_92261937dupC	ENSP00000276609:p.Thr18fs					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Ins_p.T18fs|SLC26A7_uc003yfa.2_Frame_Shift_Ins_p.T18fs	p.T18fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		3	330_331	+			18			Cytoplasmic (Potential).			Frame_Shift_Ins	INS	ENST00000276609.3	37	c.52_53insC	CCDS6254.1																																																																																				0.396	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			9	457	NA	NA	NA	NA	NA	9	457	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100779108	100779121	+	Frame_Shift_Del	DEL	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	rs374136243|rs145846582		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	-	TCAATCTCGTGAAT	TCAATCTCGTGAAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:100779108_100779121delTCAATCTCGTGAAT	ENST00000358544.2	+	40	7343_7356	c.7232_7245delTCAATCTCGTGAAT	c.(7231-7245)atcaatctcgtgaatfs	p.INLVN2411fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.INLVN2386fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCCGGATATCAATCTCGTGAATGACCAGAAGA	0.374																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7231-7245)ATCAATCTCGTGAATfs		vacuolar protein sorting 13B isoform 5																																				SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100779108_100779121delTCAATCTCGTGAAT	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7232_7245delTCAATCTCGTGAAT	8.37:g.100779108_100779121delTCAATCTCGTGAAT	ENSP00000351346:p.Ile2411fs					VPS13B_uc003yiw.2_Frame_Shift_Del_p.I2386fs	p.I2411fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		40	7343_7356	+	Breast(36;3.73e-07)		2411_2415					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.7232_7245delTCAATCTCGTGAAT	CCDS6280.1																																																																																				0.374	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		16	179	NA	NA	NA	NA	NA	16	179	---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101153252	101153255	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	TCTT	TCTT	-	-	TCTT	TCTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:101153252_101153255delTCTT	ENST00000428847.2	-	2	1543_1546	c.1227_1230delAAGA	c.(1225-1230)aaaagafs	p.KR409fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	409					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)			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)			CAGCTGCTGCTCTTTTTTCAGAGT	0.49																																							uc003yjd.2		NA																	0				kidney(1)|skin(1)	2						c.(1225-1230)AAAAGAfs		F-box protein 43 isoform b																																				SO:0001589	frameshift_variant	286151				meiosis		zinc ion binding	g.chr8:101153252_101153255delTCTT	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.1227_1230delAAGA	8.37:g.101153252_101153255delTCTT	ENSP00000403293:p.Lys409fs					FBXO43_uc003yje.2_Frame_Shift_Del_p.K375fs|FBXO43_uc010mbp.1_Frame_Shift_Del_p.K409fs	p.K409fs	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)		2	1940_1943	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		409_410						Frame_Shift_Del	DEL	ENST00000428847.2	37	c.1227_1230delAAGA	CCDS47904.1																																																																																				0.490	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		8	152	NA	NA	NA	NA	NA	8	152	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535																																							uc003zja.1		NA																	0					0						c.(19-21)TTCfs		relaxin 2 isoform 1 preproprotein			,	5,4259		0,5,2127					,	0.2	0.1			64	20,8234		0,20,4107	no	frameshift,frameshift	RLN2	NM_134441.1,NM_005059.2	,	0,25,6234	A1A1,A1R,RR		0.2423,0.1173,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304560_5304561insA		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.21dupT	9.37:g.5304568_5304568dupA	ENSP00000371040:p.Phe7fs					RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs	p.F7fs	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	20_21	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	7					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Ins	INS	ENST00000381627.3	37	c.20_21insT	CCDS6460.1																																																																																				0.535	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		11	403	NA	NA	NA	NA	NA	11	403	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs|FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																							uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2206-2211)CCCATGfs		FRAS1 related extracellular matrix 1 precursor																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs					FREM1_uc010mic.2_RNA	p.P736fs	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	13	2798_2799	-			736_737			CSPG 4.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2208_2209insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		7	791	NA	NA	NA	NA	NA	7	791	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G	rs368852145		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594																																							uc003ztq.1		NA																	0				ovary(3)	3						c.e25-1		ubiquitin associated protein 2																																				SO:0001630	splice_region_variant	55833							g.chr9:33923478_33923479insG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2797-2->C	9.37:g.33923485_33923485dupG						UBAP2_uc011loc.1_Splice_Site_p.V842_splice|UBAP2_uc011lod.1_Splice_Site_p.V666_splice|UBAP2_uc011loe.1_Splice_Site_p.V688_splice|UBAP2_uc011lof.1_Intron|UBAP2_uc003ztn.1_Splice_Site_p.V172_splice|UBAP2_uc003zto.1_Splice_Site_p.V172_splice|UBAP2_uc003ztp.1_Splice_Site_p.V172_splice	p.V933_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	25	2910	-									Splice_Site	INS	ENST00000379238.1	37	c.2797_splice	CCDS6547.1																																																																																				0.594	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	Intron	14	338	NA	NA	NA	NA	NA	14	338	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:77377691_77377692insC	ENST00000360774.1	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)gcafs	p.A1299fs	TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.A1294fs|TRPM6_ENST00000451710.3_Frame_Shift_Ins_p.A1299fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.A1299fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.A1294fs	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.48																																							uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3895-3897)GCAfs		transient receptor potential cation channel,																																				SO:0001589	frameshift_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377691_77377692insC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3896dupG	9.37:g.77377697_77377697dupC	ENSP00000354006:p.Ala1299fs					TRPM6_uc004ajk.1_Frame_Shift_Ins_p.A1294fs|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Frame_Shift_Ins_p.A255fs	p.A1299fs	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4133_4134	-			1299			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Frame_Shift_Ins	INS	ENST00000360774.1	37	c.3895_3896insG	CCDS6647.1																																																																																				0.480	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		9	460	NA	NA	NA	NA	NA	9	460	---	---	---	---
SPATA31C2	645961	broad.mit.edu	37	9	90748545	90748546	+	IGR	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:90748545_90748546insC								U6 (135295 upstream) : U3 (240637 downstream)																							CCTCTGGGCCTCCCCCTCCGCC	0.599																																							uc011lti.1		NA																	0					NA						c.(226-231)GGGAGGfs		SubName: Full=cDNA FLJ59639;																																				SO:0001628	intergenic_variant	0							g.chr9:90748545_90748546insC																													9.37:g.90748550_90748550dupC							p.G76fs							2	257_258	-									Frame_Shift_Ins	INS		37	c.228_229insG																																																																																				0	0.599									7	393	NA	NA	NA	NA	NA	7	393	---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91943617	91943618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:91943617_91943618insA	ENST00000375807.3	+	5	688_689	c.617_618insA	c.(616-621)gcaaaafs	p.AK206fs	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.AK133fs|SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.AK138fs	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	206					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.N208fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAATCATTGCAAAAAATGTAT	0.356																																							uc004aqj.1		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(616-618)GCAfs		SECIS binding protein 2																																				SO:0001589	frameshift_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91943617_91943618insA	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.623dupA	9.37:g.91943623_91943623dupA	ENSP00000364965:p.Ala206fs					SECISBP2_uc010mqn.1_Frame_Shift_Ins_p.A206fs|SECISBP2_uc004aqi.1_Frame_Shift_Ins_p.A133fs|SECISBP2_uc011ltk.1_Frame_Shift_Ins_p.A205fs|SECISBP2_uc004aqk.1_Frame_Shift_Ins_p.A133fs|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Frame_Shift_Ins_p.A138fs	p.A206fs	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			5	697_698	+			206					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Frame_Shift_Ins	INS	ENST00000375807.3	37	c.617_618insA	CCDS6683.1																																																																																				0.356	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		7	202	NA	NA	NA	NA	NA	7	202	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:94486955delG	ENST00000375708.3	-	9	2019	c.1821delC	c.(1819-1821)tccfs	p.S608fs	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Frame_Shift_Del_p.S468fs	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	608	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607																																							uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1819-1821)TCCfs		receptor tyrosine kinase-like orphan receptor 2							108.0	90.0	96.0					9																	94486955		2203	4300	6503	SO:0001589	frameshift_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486955delG	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1821delC	9.37:g.94486955delG	ENSP00000364860:p.Ser608fs					ROR2_uc004ari.1_Frame_Shift_Del_p.S467fs	p.S607fs	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2020	-			607			Cytoplasmic (Potential).|Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Frame_Shift_Del	DEL	ENST00000375708.3	37	c.1821delC	CCDS6691.1																																																																																				0.607	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			48	155	NA	NA	NA	NA	NA	48	155	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																							uc004bbe.2		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(448-453)CCCAATfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs					MRPL50_uc011lvj.1_Intron	p.P150fs	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN			2	495_496	-		Acute lymphoblastic leukemia(62;0.0559)	150_151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		18	542	NA	NA	NA	NA	NA	18	542	---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107289148delG	ENST00000277216.3	-	1	342	c.343delC	c.(343-345)cttfs	p.L115fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438																																							uc011lvn.1		NA																	0				skin(1)	1						c.(343-345)CTTfs		olfactory receptor, family 13, subfamily C,							191.0	160.0	170.0					9																	107289148		2203	4300	6503	SO:0001589	frameshift_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289148delG		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.343delC	9.37:g.107289148delG	ENSP00000277216:p.Leu115fs						p.L115fs	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	343	-			115			Helical; Name=3; (Potential).		Q6IF51|Q96R41	Frame_Shift_Del	DEL	ENST00000277216.3	37	c.343delC	CCDS35088.1																																																																																				0.438	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			95	757	NA	NA	NA	NA	NA	95	757	---	---	---	---
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G	rs554733063		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)cagfs	p.Q132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564																																							uc011lwk.1		NA																	0					0						c.(394-396)CAGfs		hypothetical protein LOC401546																																				SO:0001589	frameshift_variant	401546							g.chr9:112963553_112963554insG	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.395dupC	9.37:g.112963559_112963559dupG	ENSP00000383456:p.Gln132fs						p.Q132fs	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN			2	948_949	-			132					A8MWT6	Frame_Shift_Ins	INS	ENST00000400613.4	37	c.394_395insC	CCDS35102.2																																																																																				0.564	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		7	861	NA	NA	NA	NA	NA	7	861	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137623482	137623482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137623482delG	ENST00000371817.3	+	8	1719	c.1305delG	c.(1303-1305)ccgfs	p.P435fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGCCGGCGAACCAGG	0.642																																							uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1303-1305)CCGfs		alpha 1 type V collagen preproprotein							87.0	87.0	87.0					9																	137623482		2203	4300	6503	SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623482delG	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1305delG	9.37:g.137623482delG	ENSP00000360882:p.Pro435fs						p.P435fs	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1687	+		Myeloproliferative disorder(178;0.0341)	435			Nonhelical region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.1305delG	CCDS6982.1																																																																																				0.642	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		15	101	NA	NA	NA	NA	NA	15	101	---	---	---	---
CLCN4	1183	broad.mit.edu	37	X	10188762	10188763	+	Frame_Shift_Ins	INS	-	-	C	rs142375213		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:10188762_10188763insC	ENST00000380833.4	+	12	2428_2429	c.2037_2038insC	c.(2038-2040)cccfs	p.P680fs	CLCN4_ENST00000380829.1_Frame_Shift_Ins_p.P649fs|CLCN4_ENST00000421085.2_Frame_Shift_Ins_p.P586fs	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	680					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGCT	0.564																																					Melanoma(74;1050 1296 1576 30544 38374)	Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2035-2040)GAACCCfs		chloride channel 4																																				SO:0001589	frameshift_variant	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188762_10188763insC	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2043dupC	X.37:g.10188768_10188768dupC	ENSP00000370213:p.Pro680fs					CLCN4_uc011mid.1_Frame_Shift_Ins_p.E585fs	p.E679fs	NM_001830	NP_001821	P51793	CLCN4_HUMAN			12	2467_2468	+			679_680			Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Frame_Shift_Ins	INS	ENST00000380833.4	37	c.2037_2038insC	CCDS14137.1																																																																																				0.564	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			7	228	NA	NA	NA	NA	NA	7	228	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:40982956_40982957insC	ENST00000324545.8	+	2	708_709	c.75_76insC	c.(76-78)cccfs	p.P26fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P26fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	26					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.54																																					Ovarian(172;1807 2695 35459 49286)	Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(73-78)CAGCCCfs		ubiquitin specific protease 9, X-linked isoform																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40982956_40982957insC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.82dupC	X.37:g.40982963_40982963dupC	ENSP00000316357:p.Pro26fs					USP9X_uc004dfc.2_Frame_Shift_Ins_p.Q25fs	p.Q25fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			2	708_709	+			25_26					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.75_76insC	CCDS43930.1																																																																																				0.540	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		7	120	NA	NA	NA	NA	NA	7	120	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																							uc010nib.1		NA																	0					NA						c.(424-426)CCGfs		synovial sarcoma, X breakpoint 9																																						0							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG							p.P142fs	NM_174962	NP_777622					6	512_513	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		20	409	NA	NA	NA	NA	NA	20	409	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	Colon(37;227 826 19399 40970 48007)	uc004djd.1		NA																	0					0						c.(481-483)GAAfs		synovial sarcoma, X breakpoint 3 isoform a																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs						p.E161fs	NM_021014	NP_066294	Q99909	SSX3_HUMAN			7	575_576	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		10	822	NA	NA	NA	NA	NA	10	822	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	Colon(37;227 826 19399 40970 48007)	uc004djd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(424-426)CCGfs		synovial sarcoma, X breakpoint 3 isoform a																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs					SSX3_uc004dje.2_Frame_Shift_Ins_p.P142fs	p.P142fs	NM_021014	NP_066294	Q99909	SSX3_HUMAN			6	519_520	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		8	424	NA	NA	NA	NA	NA	8	424	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																		uc004dmb.3		NA		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	0				soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(1444-1446)GGAfs		transcription factor E3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_uc004dmc.3_Frame_Shift_Ins_p.G377fs	p.G482fs	NM_006521	NP_006512	P19532	TFE3_HUMAN			10	1683_1684	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		20	153	NA	NA	NA	NA	NA	20	153	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs281874665|rs281874666|rs104886321|rs104886113		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107834821_107834822insC	ENST00000361603.2	+	21	1614_1615	c.1370_1371insC	c.(1369-1374)ggccccfs	p.GP457fs	COL4A5_ENST00000328300.6_Frame_Shift_Ins_p.GP457fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4	GRCh37	CD961911	COL4A5	D		c.(1369-1371)GGCfs		type IV collagen alpha 5 isoform 2 precursor																																				SO:0001589	frameshift_variant	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834821_107834822insC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1376dupC	X.37:g.107834827_107834827dupC	ENSP00000354505:p.Gly457fs					COL4A5_uc011mso.1_Frame_Shift_Ins_p.G457fs|COL4A5_uc004eob.1_Frame_Shift_Ins_p.G65fs	p.G457fs	NM_033380	NP_203699	P29400	CO4A5_HUMAN			21	1572_1573	+			457		Missing (in APSX).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Ins	INS	ENST00000361603.2	37	c.1370_1371insC	CCDS14543.1																																																																																				0.406	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			7	795	NA	NA	NA	NA	NA	7	795	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																							uc004epc.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1042-1044)TTTfs		calpain 6							331.0	293.0	306.0					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs					CAPN6_uc011msu.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			8	1212	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	1524	NA	NA	NA	NA	NA	7	1524	---	---	---	---
ZCCHC16	340595	broad.mit.edu	37	X	111698756	111698756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:111698756delC	ENST00000340433.2	+	1	1030	c.800delC	c.(799-801)accfs	p.T267fs		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	267							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCCTCTCACCCCAGCCAAA	0.547																																							uc004epo.1		NA																	0				ovary(1)	1						c.(799-801)ACCfs		zinc finger, CCHC domain containing 16							77.0	79.0	78.0					X																	111698756		2203	4300	6503	SO:0001589	frameshift_variant	340595						nucleic acid binding|zinc ion binding	g.chrX:111698756delC	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.800delC	X.37:g.111698756delC	ENSP00000340590:p.Thr267fs						p.T267fs	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1241	+			267					B2RPG1	Frame_Shift_Del	DEL	ENST00000340433.2	37	c.800delC	CCDS35369.1																																																																																				0.547	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		76	177	NA	NA	NA	NA	NA	76	177	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135455155	135455156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135455155_135455156insG	ENST00000394143.1	+	15	7999_8000	c.7708_7709insG	c.(7708-7710)cggfs	p.R2570fs	GPR112_ENST00000287534.4_Frame_Shift_Ins_p.R2368fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.R2570fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.R2365fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTGCTGCGGGGGGACCAC	0.53																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7708-7710)CGGfs		G-protein coupled receptor 112																																				SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455155_135455156insG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7714dupG	X.37:g.135455161_135455161dupG	ENSP00000377699:p.Arg2570fs					GPR112_uc010nsb.1_Frame_Shift_Ins_p.R2365fs	p.R2570fs	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			15	7999_8000	+	Acute lymphoblastic leukemia(192;0.000127)		2570			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	ENST00000394143.1	37	c.7708_7709insG	CCDS35409.1																																																																																				0.530	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			13	1600	NA	NA	NA	NA	NA	13	1600	---	---	---	---
