#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
CALML6	163688	broad.mit.edu	37	1	1848605	1848605	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:1848605G>A	ENST00000307786.3	+	6	973	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	173	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCATGATGACGGGGGAGTCCT	0.692																																							uc001aih.1		NA																	0					0						c.(517-519)ACG>ACA		calmodulin-like 6							32.0	30.0	31.0					1																	1848605		2195	4295	6490	SO:0001819	synonymous_variant	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848605G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.519G>A	1.37:g.1848605G>A							p.T173T	NM_138705	NP_619650	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	6	973	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	173			EF-hand 4.		A2A2M3|Q6Q2C4	Silent	SNP	ENST00000307786.3	37	c.519G>A	CCDS30566.1																																																																																				0.692	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		7	54	0	0	0	0.038147	0	7	54				
SPSB1	80176	broad.mit.edu	37	1	9416188	9416188	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:9416188G>T	ENST00000328089.6	+	2	579	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	SPSB1_ENST00000377399.2_Missense_Mutation_p.V80L|SPSB1_ENST00000357898.3_Missense_Mutation_p.V80L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	80	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGCATCCGGTGGCCCAGAG	0.582																																							uc010oae.1		NA																	0					0						c.(238-240)GTG>TTG		splA/ryanodine receptor domain and SOCS box							153.0	154.0	154.0					1																	9416188		2203	4300	6503	SO:0001583	missense	80176				intracellular signal transduction	cytoplasm		g.chr1:9416188G>T		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.238G>T	1.37:g.9416188G>T	ENSP00000330221:p.Val80Leu					SPSB1_uc001apv.2_Missense_Mutation_p.V80L	p.V80L	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	577	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	80			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	c.238G>T	CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268004	0.95429	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.77465	0.4134	H	0.94734	3.575	0.80722	D	1	D	0.63880	0.993	P	0.58454	0.839	T	0.82246	-0.0552	10	0.40728	T	0.16	-10.2896	17.997	0.89187	0.0:0.0:1.0:0.0	.	80	Q96BD6	SPSB1_HUMAN	L	80	ENSP00000330221:V80L;ENSP00000409235:V80L;ENSP00000350573:V80L;ENSP00000366616:V80L	ENSP00000330221:V80L	V	+	1	0	SPSB1	9338775	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.995000	0.88328	2.485000	0.83878	0.655000	0.94253	GTG		0.582	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		75	437	1	0	5.02462e-34	0.139131	7.0829e-34	75	437				
PRAMEF2	65122	broad.mit.edu	37	1	12919660	12919660	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:12919660A>G	ENST00000240189.2	+	3	487	c.400A>G	c.(400-402)Aca>Gca	p.T134A		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	134					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)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGAGGCAGACAGCAGAGGA	0.542																																							uc001aum.1		NA																	0					0						c.(400-402)ACA>GCA		PRAME family member 2							167.0	182.0	177.0					1																	12919660		2202	4298	6500	SO:0001583	missense	65122							g.chr1:12919660A>G		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.400A>G	1.37:g.12919660A>G	ENSP00000240189:p.Thr134Ala						p.T134A	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	487	+	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)	134						Missense_Mutation	SNP	ENST00000240189.2	37	c.400A>G	CCDS149.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.393566	0.01175	.	.	ENSG00000120952	ENST00000240189	T	0.04706	3.57	0.842	-0.589	0.11683	.	2.911680	0.01563	N	0.020216	T	0.03263	0.0095	N	0.19112	0.55	0.09310	N	1	B	0.18863	0.031	B	0.21360	0.034	T	0.36529	-0.9744	10	0.08381	T	0.77	.	3.0343	0.06117	0.6655:0.0:0.3345:0.0	.	134	O60811	PRAM2_HUMAN	A	134	ENSP00000240189:T134A	ENSP00000240189:T134A	T	+	1	0	PRAMEF2	12842247	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.172000	0.09868	-0.216000	0.10048	0.163000	0.16589	ACA		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		8	585	0	0	0	0.047766	0	8	585				
INSL5	10022	broad.mit.edu	37	1	67263829	67263829	+	Missense_Mutation	SNP	C	C	T	rs137866143	byFrequency	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:67263829C>T	ENST00000304526.2	-	2	309	c.275G>A	c.(274-276)cGt>cAt	p.R92H		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	92						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						ACCCCAAAGACGGTCTTCCCC	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		19538	0.0		0.001	False		,,,				2504	0.001						uc001dcw.2		NA																	0					0						c.(274-276)CGT>CAT		insulin-like 5 precursor		C	HIS/ARG	0,4406		0,0,2203	122.0	116.0	118.0		275	-8.6	0.0	1	dbSNP_134	118	1,8599		0,1,4299	yes	missense	INSL5	NM_005478.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	92/136	67263829	1,13005	2203	4300	6503	SO:0001583	missense	10022					extracellular region	hormone activity	g.chr1:67263829C>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.275G>A	1.37:g.67263829C>T	ENSP00000302724:p.Arg92His						p.R92H	NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN			2	310	-			92					Q3MIY4|Q5VYD8	Missense_Mutation	SNP	ENST00000304526.2	37	c.275G>A	CCDS634.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.498	1.102426	0.20632	0.0	1.16E-4	ENSG00000172410	ENST00000304526	T	0.64085	-0.08	4.31	-8.62	0.00881	Insulin-like (3);	2.664930	0.01536	N	0.019007	T	0.06690	0.0171	N	0.01048	-1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09618	-1.0666	10	0.15952	T	0.53	-5.296	0.9726	0.01419	0.4087:0.2195:0.1022:0.2695	.	92	Q9Y5Q6	INSL5_HUMAN	H	92	ENSP00000302724:R92H	ENSP00000302724:R92H	R	-	2	0	INSL5	67036417	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.531000	0.00943	-1.657000	0.01492	-1.056000	0.02311	CGT		0.483	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		23	298	0	0	0	0.083992	0	23	298				
WNT2B	7482	broad.mit.edu	37	1	113057555	113057555	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:113057555G>A	ENST00000369684.4	+	2	727	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_5'UTR|WNT2B_ENST00000369686.5_Missense_Mutation_p.R62Q	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	81					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGTGAGCCGGCAGCGGCAG	0.592																																							uc001ecb.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(241-243)CGG>CAG		wingless-type MMTV integration site family,							94.0	87.0	89.0					1																	113057555		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113057555G>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.242G>A	1.37:g.113057555G>A	ENSP00000358698:p.Arg81Gln					WNT2B_uc001eca.2_Missense_Mutation_p.R62Q|WNT2B_uc009wgg.2_5'UTR	p.R81Q	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	757	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	81					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.242G>A	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576699	0.65878	.	.	ENSG00000134245	ENST00000369686;ENST00000369684	T;T	0.75938	-0.98;-0.98	5.3	4.38	0.52667	.	0.051850	0.85682	D	0.000000	T	0.50871	0.1641	L	0.46567	1.45	0.36074	D	0.842329	B;B	0.27416	0.178;0.147	B;B	0.29524	0.103;0.024	T	0.58612	-0.7606	10	0.51188	T	0.08	.	5.3473	0.16016	0.2837:0.0:0.7163:0.0	.	81;62	Q93097;Q93097-2	WNT2B_HUMAN;.	Q	62;81	ENSP00000358700:R62Q;ENSP00000358698:R81Q	ENSP00000358698:R81Q	R	+	2	0	WNT2B	112859078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.050000	0.71063	2.474000	0.83562	0.561000	0.74099	CGG		0.592	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		50	276	0	0	0	0.139131	0	50	276				
SELE	6401	broad.mit.edu	37	1	169698730	169698730	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:169698730G>C	ENST00000333360.7	-	6	939	c.800C>G	c.(799-801)aCc>aGc	p.T267S	SELE_ENST00000367782.4_Missense_Mutation_p.T267S|SELE_ENST00000367776.1_Missense_Mutation_p.T267S|SELE_ENST00000367781.4_Missense_Mutation_p.T267S|SELE_ENST00000367779.4_Missense_Mutation_p.T267S|SELE_ENST00000367777.1_Missense_Mutation_p.T267S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.T205S|SELE_ENST00000367775.1_Missense_Mutation_p.T205S|SELE_ENST00000367774.1_Missense_Mutation_p.T267S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	267	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AAATGTACAGGTTGTGTTCCA	0.458																																							uc001ggm.3		NA																	0				ovary(3)|skin(2)	5						c.(799-801)ACC>AGC		selectin E precursor							153.0	143.0	147.0					1																	169698730		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698730G>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.800C>G	1.37:g.169698730G>C	ENSP00000331736:p.Thr267Ser					C1orf112_uc001ggj.2_Intron	p.T267S	NM_000450	NP_000441	P16581	LYAM2_HUMAN			6	957	-	all_hematologic(923;0.208)		267			Sushi 2.|Extracellular (Potential).		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.800C>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274081	0.23221	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.71	3.71	0.42584	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.44285	D	0.000474	T	0.33381	0.0861	L	0.37750	1.13	0.09310	N	1	P	0.37083	0.581	P	0.44477	0.451	T	0.24799	-1.0150	10	0.10377	T	0.69	-22.0062	8.9293	0.35661	0.0:0.3055:0.5367:0.1578	.	267	P16581	LYAM2_HUMAN	S	267;267;205;267;267;267;205;267;267	ENSP00000356755:T267S;ENSP00000356756:T267S;ENSP00000356754:T205S;ENSP00000356753:T267S;ENSP00000331736:T267S;ENSP00000356751:T267S;ENSP00000356749:T205S;ENSP00000356750:T267S;ENSP00000356748:T267S	ENSP00000331736:T267S	T	-	2	0	SELE	167965354	0.002000	0.14202	0.118000	0.21660	0.859000	0.49053	0.371000	0.20450	1.380000	0.46344	0.650000	0.86243	ACC		0.458	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		54	332	0	0	0	0.139131	0	54	332				
ASTN1	460	broad.mit.edu	37	1	176857225	176857225	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:176857225G>A	ENST00000367654.3	-	18	3291	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1027					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGAGAGGCGCACAGGTGGG	0.502																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3055-3057)GCG>GTG		astrotactin isoform 1							101.0	91.0	95.0					1																	176857225		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857225G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3080C>T	1.37:g.176857225G>A	ENSP00000356626:p.Ala1027Val					ASTN1_uc001glb.1_Missense_Mutation_p.A1019V|ASTN1_uc001gld.1_Missense_Mutation_p.A1019V	p.A1019V	NM_004319	NP_004310	O14525	ASTN1_HUMAN			18	3268	-			1027					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3056C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738388	0.89573	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.56697	-0.7936	10	0.87932	D	0	-27.1087	19.5873	0.95495	0.0:0.0:1.0:0.0	.	1019;1019	O14525-2;B1AJS1	.;.	V	1019;1019;1027;1019;1019	ENSP00000356629:A1019V;ENSP00000354536:A1019V;ENSP00000356626:A1027V;ENSP00000395041:A1019V	ENSP00000354536:A1019V	A	-	2	0	ASTN1	175123848	1.000000	0.71417	0.961000	0.40146	0.586000	0.36452	6.261000	0.72509	2.729000	0.93468	0.585000	0.79938	GCG		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		9	220	0	0	0	0.058154	0	9	220				
KIF21B	23046	broad.mit.edu	37	1	200965516	200965516	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:200965516C>A	ENST00000422435.2	-	15	2401	c.2085G>T	c.(2083-2085)atG>atT	p.M695I	KIF21B_ENST00000360529.5_Missense_Mutation_p.M695I|KIF21B_ENST00000461742.2_Missense_Mutation_p.M695I|KIF21B_ENST00000332129.2_Missense_Mutation_p.M695I	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	695					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						TATAGCACTCCATGGTGCCTG	0.577																																							uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(2083-2085)ATG>ATT		kinesin family member 21B							122.0	113.0	116.0					1																	200965516		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200965516C>A	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.2085G>T	1.37:g.200965516C>A	ENSP00000411831:p.Met695Ile					KIF21B_uc001gvr.1_Missense_Mutation_p.M695I|KIF21B_uc009wzl.1_Missense_Mutation_p.M695I|KIF21B_uc010ppn.1_Missense_Mutation_p.M695I	p.M695I	NM_017596	NP_060066	O75037	KI21B_HUMAN			15	2402	-			695			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2085G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533939	0.64972	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.84	4.84	0.62591	.	0.096622	0.64402	D	0.000001	T	0.17238	0.0414	L	0.61036	1.89	0.80722	D	1	B;B;B;B	0.17038	0.02;0.006;0.006;0.01	B;B;B;B	0.15484	0.006;0.006;0.006;0.013	T	0.07177	-1.0786	10	0.16420	T	0.52	.	17.9056	0.88917	0.0:1.0:0.0:0.0	.	695;695;695;695	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	I	695	ENSP00000328494:M695I;ENSP00000353724:M695I;ENSP00000433808:M695I;ENSP00000411831:M695I	ENSP00000328494:M695I	M	-	3	0	KIF21B	199232139	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.724000	0.84798	2.232000	0.73038	0.561000	0.74099	ATG		0.577	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		71	345	1	0	4.83814e-26	0.139131	6.65955e-26	71	345				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	176	0	0	0	0.014758	0	5	176				
BMS1	9790	broad.mit.edu	37	10	43318597	43318597	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr10:43318597A>G	ENST00000374518.5	+	20	3227	c.3164A>G	c.(3163-3165)aAa>aGa	p.K1055R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1055					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGTGGCCAAATTTGAAGGT	0.428																																							uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3163-3165)AAA>AGA		BMS1-like, ribosome assembly protein							76.0	80.0	79.0					10																	43318597		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318597A>G	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3164A>G	10.37:g.43318597A>G	ENSP00000363642:p.Lys1055Arg						p.K1055R	NM_014753	NP_055568	Q14692	BMS1_HUMAN			20	3522	+			1055					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3164A>G	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893074	0.52121	.	.	ENSG00000165733	ENST00000374518	T	0.18174	2.23	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	L	0.54965	1.715	0.48901	D	0.999724	B	0.10296	0.003	B	0.10450	0.005	T	0.05162	-1.0902	10	0.09590	T	0.72	.	14.2326	0.65903	1.0:0.0:0.0:0.0	.	1055	Q14692	BMS1_HUMAN	R	1055	ENSP00000363642:K1055R	ENSP00000363642:K1055R	K	+	2	0	BMS1	42638603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.019000	0.70818	1.825000	0.53177	0.373000	0.22412	AAA		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		5	275	0	0	0	0.021553	0	5	275				
DCLRE1A	9937	broad.mit.edu	37	10	115609461	115609461	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr10:115609461G>T	ENST00000361384.2	-	2	2320	c.1403C>A	c.(1402-1404)cCt>cAt	p.P468H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.P468H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	468	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACTTTCAAAAGGTTTCAACAT	0.318								Other identified genes with known or suspected DNA repair function																															uc001law.2		NA																	0				skin(2)	2						c.(1402-1404)CCT>CAT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							66.0	67.0	67.0					10																	115609461		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609461G>T		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1403C>A	10.37:g.115609461G>T	ENSP00000355185:p.Pro468His						p.P468H	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2321	-			468			Nuclear focus formation.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.1403C>A	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006137	0.35415	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.64991	-0.13;-0.13	5.42	2.53	0.30540	.	1.004860	0.08001	N	0.988735	T	0.59432	0.2193	L	0.43152	1.355	0.09310	N	1	P	0.52170	0.951	P	0.47206	0.541	T	0.46803	-0.9165	10	0.56958	D	0.05	-0.4477	7.8305	0.29340	0.0846:0.309:0.6064:0.0	.	468	Q6PJP8	DCR1A_HUMAN	H	468	ENSP00000355185:P468H;ENSP00000358311:P468H	ENSP00000355185:P468H	P	-	2	0	DCLRE1A	115599451	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-0.112000	0.10791	0.256000	0.21614	-0.145000	0.13849	CCT		0.318	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		33	179	1	0	1.22384e-17	0.054565	1.62714e-17	33	179				
MPEG1	219972	broad.mit.edu	37	11	58979414	58979414	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:58979414G>C	ENST00000361050.3	-	1	1010	c.925C>G	c.(925-927)Ccg>Gcg	p.P309A	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	309	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AAATGCAGCGGCAGGCCAGAG	0.567																																							uc001nnu.3		NA																	0				ovary(1)|skin(1)	2						c.(925-927)CCG>GCG		macrophage expressed gene 1 precursor							30.0	29.0	29.0					11																	58979414		1881	4070	5951	SO:0001583	missense	219972					integral to membrane		g.chr11:58979414G>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.925C>G	11.37:g.58979414G>C	ENSP00000354335:p.Pro309Ala						p.P309A	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1081	-		all_epithelial(135;0.125)	309			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.925C>G	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591435	0.66219	.	.	ENSG00000197629	ENST00000361050	D	0.93712	-3.27	5.53	5.53	0.82687	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	M	0.83483	2.645	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.97217	0.9875	10	0.87932	D	0	-19.574	16.3786	0.83431	0.0:0.0:1.0:0.0	.	309	Q2M385	MPEG1_HUMAN	A	309	ENSP00000354335:P309A	ENSP00000354335:P309A	P	-	1	0	MPEG1	58735990	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	8.922000	0.92789	2.616000	0.88540	0.655000	0.94253	CCG		0.567	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		15	90	0	0	0	0.11911	0	15	90				
MPEG1	219972	broad.mit.edu	37	11	58979536	58979536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:58979536G>T	ENST00000361050.3	-	1	888	c.803C>A	c.(802-804)tCa>tAa	p.S268*	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	268	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGTTCGGTTTGAGAGGTAGCT	0.537																																							uc001nnu.3		NA																	0				ovary(1)|skin(1)	2						c.(802-804)TCA>TAA		macrophage expressed gene 1 precursor							34.0	33.0	33.0					11																	58979536		1888	4103	5991	SO:0001587	stop_gained	219972					integral to membrane		g.chr11:58979536G>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.803C>A	11.37:g.58979536G>T	ENSP00000354335:p.Ser268*						p.S268*	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	959	-		all_epithelial(135;0.125)	268			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Nonsense_Mutation	SNP	ENST00000361050.3	37	c.803C>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560002	0.96514	.	.	ENSG00000197629	ENST00000361050	.	.	.	5.38	5.38	0.77491	.	0.138798	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5278	16.1079	0.81237	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000354335:S268X	S	-	2	0	MPEG1	58736112	0.993000	0.37304	0.780000	0.31762	0.978000	0.69477	2.949000	0.49074	2.541000	0.85698	0.650000	0.86243	TCA		0.537	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		8	57	1	0	0.000157383	0.038147	0.000187896	8	57				
MS4A14	84689	broad.mit.edu	37	11	60183610	60183610	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:60183610C>A	ENST00000300187.6	+	5	1446	c.1169C>A	c.(1168-1170)aCa>aAa	p.T390K	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.T278K|MS4A14_ENST00000531783.1_Missense_Mutation_p.T423K|MS4A14_ENST00000395005.2_Missense_Mutation_p.T373K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	390						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						tctcaagacacaccatcccac	0.458																																							uc001npj.2		NA																	0				breast(1)	1						c.(1168-1170)ACA>AAA		membrane-spanning 4-domains, subfamily A, member							137.0	108.0	118.0					11																	60183610		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183610C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1169C>A	11.37:g.60183610C>A	ENSP00000300187:p.Thr390Lys					MS4A14_uc001npi.2_Missense_Mutation_p.T278K|MS4A14_uc001npn.2_Missense_Mutation_p.T128K|MS4A14_uc001npk.2_Missense_Mutation_p.T373K|MS4A14_uc001npl.2_Missense_Mutation_p.T128K|MS4A14_uc001npm.2_Missense_Mutation_p.T128K	p.T390K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1734	+			390					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1169C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263374	0.39995	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.36340	1.34;2.54;1.26;2.87	2.93	-4.55	0.03441	.	4.403440	0.01256	N	0.009018	T	0.32941	0.0846	L	0.29908	0.895	0.09310	N	1	P;P	0.50528	0.936;0.895	P;B	0.47015	0.534;0.266	T	0.47824	-0.9087	10	0.62326	D	0.03	.	9.7265	0.40335	0.0:0.6546:0.0:0.3454	.	373;390	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	278;390;373;423	ENSP00000437222:T278K;ENSP00000300187:T390K;ENSP00000378453:T373K;ENSP00000433761:T423K	ENSP00000300187:T390K	T	+	2	0	MS4A14	59940186	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.545000	0.00435	-1.170000	0.02769	0.555000	0.69702	ACA		0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			8	51	1	0	0.00307968	0.038147	0.00363962	8	51				
SLC29A2	3177	broad.mit.edu	37	11	66130941	66130941	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:66130941G>A	ENST00000357440.2	-	12	1565	c.1337C>T	c.(1336-1338)gCc>gTc	p.A446V	SLC29A2_ENST00000544554.1_Missense_Mutation_p.A446V|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A446V|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000311161.7_3'UTR|RP11-867G23.8_ENST00000531602.1_Missense_Mutation_p.A64T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	446					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGAGAGGGAGGCTCCACAGGA	0.637																																							uc001oht.2		NA																	0				ovary(1)	1						c.(1336-1338)GCC>GTC		solute carrier family 29 (nucleoside							70.0	64.0	66.0					11																	66130941		2198	4295	6493	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66130941G>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.1337C>T	11.37:g.66130941G>A	ENSP00000350024:p.Ala446Val					SLC29A2_uc001ohs.2_Missense_Mutation_p.A326V|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.A326V|SLC29A2_uc001ohu.2_Missense_Mutation_p.A446V|SLC29A2_uc001ohv.2_3'UTR	p.A446V	NM_001532	NP_001523	Q14542	S29A2_HUMAN			12	1566	-			446			Helical; (Potential).		B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.1337C>T	CCDS8137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.658041|4.658041	0.88154|0.88154	.|.	.|.	ENSG00000255468|ENSG00000174669	ENST00000531602|ENST00000357440;ENST00000544554;ENST00000546034	.|T;T;T	.|0.81078	.|-1.45;-1.45;-1.45	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.85843|0.85843	0.5791|0.5791	L|L	0.52266|0.52266	1.64|1.64	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.83833|0.83833	0.0253|0.0253	7|10	0.87932|0.30854	D|T	0|0.27	-11.8355|-11.8355	14.9343|14.9343	0.70941|0.70941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|446	.|Q14542	.|S29A2_HUMAN	T|V	64|446	.|ENSP00000350024:A446V;ENSP00000439456:A446V;ENSP00000440329:A446V	ENSP00000435142:A64T|ENSP00000350024:A446V	A|A	+|-	1|2	0|0	RP11-867G23.8|SLC29A2	65887517|65887517	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.618000|0.618000	0.37518|0.37518	7.063000|7.063000	0.76714|0.76714	2.395000|2.395000	0.81488|0.81488	0.585000|0.585000	0.79938|0.79938	GCT|GCC		0.637	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		15	81	0	0	0	0.038395	0	15	81				
IQSEC3	440073	broad.mit.edu	37	12	247991	247991	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:247991G>A	ENST00000538872.1	+	4	1580	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I	RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.V488I|IQSEC3_ENST00000382841.2_Missense_Mutation_p.V185I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	488					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TTTCCGGGACGTCACGGTGCA	0.726																																							uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(553-555)GTC>ATC		IQ motif and Sec7 domain 3							40.0	35.0	36.0					12																	247991		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247991G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1462G>A	12.37:g.247991G>A	ENSP00000437554:p.Val488Ile					IQSEC3_uc001qhu.1_Missense_Mutation_p.V185I|IQSEC3_uc001qht.1_Missense_Mutation_p.V270I|uc001qhv.1_Intron	p.V185I	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	559	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		488					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.553G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163768	0.78226	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.16324	2.35;2.35;2.49	4.95	4.95	0.65309	.	1.529620	0.04237	N	0.336337	T	0.42426	0.1202	M	0.72894	2.215	0.80722	D	1	D;D	0.69078	0.995;0.997	P;P	0.58210	0.688;0.835	T	0.22871	-1.0204	10	0.21014	T	0.42	.	18.181	0.89777	0.0:0.0:1.0:0.0	.	488;185	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	I	488;488;185	ENSP00000437554:V488I;ENSP00000315662:V488I;ENSP00000372292:V185I	ENSP00000315662:V488I	V	+	1	0	IQSEC3	118252	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.391000	0.73208	2.291000	0.77112	0.561000	0.74099	GTC		0.726	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		21	52	0	0	0	0.076483	0	21	52				
KMT2D	8085	broad.mit.edu	37	12	49446807	49446807	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:49446807G>A	ENST00000301067.7	-	8	1002	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	335					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCGAGTTGGGATTCAGTTCT	0.582																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1003-1005)CCC>TCC		myeloid/lymphoid or mixed-lineage leukemia 2							81.0	83.0	82.0					12																	49446807		1985	4168	6153	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49446807G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1003C>T	12.37:g.49446807G>A	ENSP00000301067:p.Pro335Ser	HNSCC(34;0.089)					p.P335S	NM_003482	NP_003473	O14686	MLL2_HUMAN			8	1003	-			335					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1003C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624586	0.28889	.	.	ENSG00000167548	ENST00000301067	T	0.79247	-1.25	5.54	4.65	0.58169	.	0.000000	0.34386	N	0.004006	T	0.74786	0.3762	N	0.08118	0	0.31082	N	0.711784	D	0.89917	1.0	D	0.69307	0.963	T	0.77525	-0.2555	10	0.87932	D	0	.	11.8372	0.52333	0.083:0.0:0.917:0.0	.	335	O14686	MLL2_HUMAN	S	335	ENSP00000301067:P335S	ENSP00000301067:P335S	P	-	1	0	MLL2	47733074	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	4.180000	0.58296	1.331000	0.45412	-0.254000	0.11334	CCC		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	347	0	0	0	0.02938	0	7	347				
NCKAP1L	3071	broad.mit.edu	37	12	54910732	54910732	+	Silent	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:54910732C>T	ENST00000293373.6	+	11	1130	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	NCKAP1L_ENST00000545638.2_Silent_p.L301L|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	351					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTGAAGGAGCTGGAGACTGT	0.502																																							uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1051-1053)CTG>TTG		NCK-associated protein 1-like							138.0	129.0	132.0					12																	54910732		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54910732C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1051C>T	12.37:g.54910732C>T						NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L301L	p.L351L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			11	1130	+			351					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.1051C>T	CCDS31813.1																																																																																				0.502	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		27	299	0	0	0	0.144211	0	27	299				
NBEA	26960	broad.mit.edu	37	13	35517094	35517094	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr13:35517094G>T	ENST00000400445.3	+	1	671	c.137G>T	c.(136-138)aGg>aTg	p.R46M	NBEA_ENST00000540320.1_Missense_Mutation_p.R46M|NBEA_ENST00000379939.2_Missense_Mutation_p.R46M|NBEA_ENST00000310336.4_Missense_Mutation_p.R46M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	46					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				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)		GGGGAGCTAAGGGGGGCGTCC	0.701																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(136-138)AGG>ATG		neurobeachin							14.0	17.0	16.0					13																	35517094		1841	4069	5910	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35517094G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.137G>T	13.37:g.35517094G>T	ENSP00000383295:p.Arg46Met						p.R46M	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)	2	343	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	46					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.137G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	g	11.98	1.799583	0.31869	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.13	4.13	0.48395	.	0.640402	0.13828	U	0.359941	T	0.22513	0.0543	N	0.02011	-0.69	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07424	-1.0773	10	0.46703	T	0.11	.	10.0334	0.42114	0.0:0.2068:0.7931:0.0	.	46	Q5T321	.	M	46	ENSP00000440951:R46M;ENSP00000383295:R46M;ENSP00000369271:R46M;ENSP00000308534:R46M	ENSP00000308534:R46M	R	+	2	0	NBEA	34415094	1.000000	0.71417	0.934000	0.37439	0.947000	0.59692	0.848000	0.27710	1.868000	0.54150	0.556000	0.70494	AGG		0.701	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		17	63	1	0	1.15088e-07	0.146539	1.4174e-07	17	63				
RB1	5925	broad.mit.edu	37	13	48937094	48937094	+	Splice_Site	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr13:48937094G>A	ENST00000267163.4	+	8	999		c.e8+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TATAGATGAGGTAATTTAACT	0.303		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		21	Whole gene deletion(15)|Unknown(6)	p.?(5)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.e8+1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						55.0	62.0	60.0					13																	48937094		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48937094G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.861+1G>A	13.37:g.48937094G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Intron	p.E287_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	8	1027	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.861_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428873	0.83667	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3122	0.94192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47835095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.281000	0.72632	2.865000	0.98341	0.655000	0.94253	.		0.303	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	10	98	0	0	0	0.069234	0	10	98				
PCNX	22990	broad.mit.edu	37	14	71500221	71500221	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr14:71500221C>T	ENST00000304743.2	+	17	4080	c.3634C>T	c.(3634-3636)Ctc>Ttc	p.L1212F	PCNX_ENST00000439984.3_Missense_Mutation_p.L1101F|PCNX_ENST00000238570.5_Missense_Mutation_p.L1212F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1212						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTTACCATCTCAGCCGACA	0.348																																							uc001xmo.2		NA																	0				ovary(1)	1						c.(3634-3636)CTC>TTC		pecanex-like 1							151.0	136.0	141.0					14																	71500221		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71500221C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3634C>T	14.37:g.71500221C>T	ENSP00000304192:p.Leu1212Phe					PCNX_uc010are.1_Missense_Mutation_p.L1101F|PCNX_uc010arf.1_Missense_Mutation_p.L72F	p.L1212F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	17	4080	+			1212			Helical; (Potential).		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3634C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152017	0.94645	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.26223	2.04;1.98;1.75	5.72	5.72	0.89469	.	0.117788	0.64402	D	0.000013	T	0.59018	0.2163	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.994	T	0.63765	-0.6563	10	0.87932	D	0	.	19.8731	0.96858	0.0:1.0:0.0:0.0	.	1212;1101;1212	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	F	1212;1212;1101	ENSP00000304192:L1212F;ENSP00000238570:L1212F;ENSP00000396617:L1101F	ENSP00000238570:L1212F	L	+	1	0	PCNX	70569974	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.548000	0.67255	2.707000	0.92482	0.650000	0.86243	CTC		0.348	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	146	0	0	0	0.014758	0	5	146				
LOC100288637	100288637	broad.mit.edu	37	15	30938316	30938316	+	lincRNA	SNP	G	G	A	rs112615235		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:30938316G>A	ENST00000602684.1	+	0	0																											TTCCTTGGCAGTGGATAAGTT	0.393																																							uc010azv.1		NA																	0					0						c.e11-1		Homo sapiens cDNA, FLJ17072.																																						89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30938316G>A																													15.37:g.30938316G>A						ARHGAP11B_uc001zeu.2_Splice_Site				Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	11		+		all_lung(180;2.71e-09)|Breast(32;0.00116)							Splice_Site	SNP	ENST00000602684.1	37	c.1127_splice																																																																																					0.393	RP11-932O9.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467507.1			5	82	0	0	0	0.021553	0	5	82				
ARID3B	10620	broad.mit.edu	37	15	74836319	74836319	+	Silent	SNP	A	A	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:74836319A>G	ENST00000346246.5	+	2	273	c.42A>G	c.(40-42)caA>caG	p.Q14Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	14	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						agcagcaacaacagaagcagc	0.562																																							uc002aye.2		NA																	0					0						c.(40-42)CAA>CAG		AT rich interactive domain 3B							18.0	21.0	20.0					15																	74836319		2196	4294	6490	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836319A>G		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.42A>G	15.37:g.74836319A>G						ARID3B_uc002ayc.2_Silent_p.Q14Q|ARID3B_uc002ayd.2_Silent_p.Q14Q	p.Q14Q	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			2	243	+			14			Gln-rich.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.42A>G	CCDS10264.1																																																																																				0.562	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		3	78	0	0	0	0.02938	0	3	78				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																							uc002cdi.2		NA																	10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		6	97	0	0	0	0.038147	0	6	97				
MEFV	4210	broad.mit.edu	37	16	3304702	3304702	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr16:3304702G>A	ENST00000219596.1	-	2	405	c.366C>T	c.(364-366)gaC>gaT	p.D122D	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	122					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCTCGGGGTGGTCTGGAGTCT	0.657																																							uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(364-366)GAC>GAT		Mediterranean fever protein	Colchicine(DB01394)						31.0	34.0	33.0					16																	3304702		2189	4291	6480	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304702G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.366C>T	16.37:g.3304702G>A							p.D122D	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	406	-			122					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.366C>T	CCDS10498.1																																																																																				0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		31	121	0	0	0	0.045705	0	31	121				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	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.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	105	0	0	0	0.038395	0	18	105				
KCNG2	26251	broad.mit.edu	37	18	77659126	77659126	+	Silent	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr18:77659126C>A	ENST00000316249.3	+	2	711	c.711C>A	c.(709-711)tcC>tcA	p.S237S	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	237					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCTGCGCTCCCTGCAGGCCG	0.667																																							uc010xfl.1		NA																	0					0						c.(709-711)TCC>TCA		potassium voltage-gated channel, subfamily G,							49.0	41.0	43.0					18																	77659126		2203	4300	6503	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659126C>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.711C>A	18.37:g.77659126C>A							p.S237S	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	711	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	237			Helical; Name=Segment S2; (Potential).			Silent	SNP	ENST00000316249.3	37	c.711C>A	CCDS12019.1																																																																																				0.667	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		18	87	1	0	6.94344e-10	0.038395	8.92728e-10	18	87				
ATP8B3	148229	broad.mit.edu	37	19	1800400	1800400	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:1800400C>T	ENST00000310127.6	-	13	1439	c.1201G>A	c.(1201-1203)Ggt>Agt	p.G401S	ATP8B3_ENST00000526092.2_Missense_Mutation_p.G348S|ATP8B3_ENST00000539485.1_Missense_Mutation_p.G401S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.G354S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	401					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGAGAAACCGAAGCCGAAG	0.597																																							uc002ltw.2		NA																	0					0						c.(1201-1203)GGT>AGT		ATPase, class I, type 8B, member 3							67.0	77.0	73.0					19																	1800400		2153	4261	6414	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1800400C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1201G>A	19.37:g.1800400C>T	ENSP00000311336:p.Gly401Ser					ATP8B3_uc002ltv.2_Missense_Mutation_p.G354S|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.G149S|ATP8B3_uc002ltz.1_Missense_Mutation_p.G348S	p.G401S	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1435	-		Hepatocellular(1079;0.137)	401			Helical; (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1201G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851011	0.32699	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	3.52	-3.52	0.04682	ATPase, P-type, ATPase-associated domain (1);	0.664730	0.14834	N	0.295665	T	0.73202	0.3557	L	0.32530	0.975	0.09310	N	1	P;P;P	0.45348	0.856;0.672;0.723	B;B;B	0.34180	0.177;0.058;0.162	T	0.69022	-0.5255	10	0.20046	T	0.44	.	4.947	0.13994	0.159:0.4855:0.0:0.3555	.	348;401;354	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	S	401;401;354;348;348	ENSP00000311336:G401S;ENSP00000443574:G401S;ENSP00000437115:G354S;ENSP00000445204:G348S	ENSP00000311336:G401S	G	-	1	0	ATP8B3	1751400	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.231000	0.09069	-0.637000	0.05516	0.555000	0.69702	GGT		0.597	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		40	225	0	0	0	0.124865	0	40	225				
ADAMTS10	81794	broad.mit.edu	37	19	8660968	8660968	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:8660968G>A	ENST00000597188.1	-	11	1596	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	ADAMTS10_ENST00000270328.4_Silent_p.T442T|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	442	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTAGAAAGCTGGTGATGTAGT	0.587																																							uc002mkj.1		NA																	0				pancreas(2)|skin(2)	4						c.(1324-1326)ACC>ACT		ADAM metallopeptidase with thrombospondin type 1							105.0	102.0	103.0					19																	8660968		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8660968G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1326C>T	19.37:g.8660968G>A						ADAMTS10_uc002mkk.1_Silent_p.T74T	p.T442T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			11	1600	-			442			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.1326C>T	CCDS12206.1																																																																																				0.587	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		48	243	0	0	0	0.139131	0	48	243				
ZNF175	7728	broad.mit.edu	37	19	52090627	52090627	+	Nonsense_Mutation	SNP	C	C	A	rs150573174		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:52090627C>A	ENST00000262259.2	+	5	1401	c.1043C>A	c.(1042-1044)tCa>tAa	p.S348*	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	348					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ATTCAGAGATCAGAATTGCTT	0.403																																							uc002pxb.2		NA																	0					0						c.(1042-1044)TCA>TAA		zinc finger protein 175							93.0	94.0	94.0					19																	52090627		2203	4300	6503	SO:0001587	stop_gained	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090627C>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1043C>A	19.37:g.52090627C>A	ENSP00000262259:p.Ser348*						p.S348*	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1421	+		all_neural(266;0.0299)	348			C2H2-type 3.		A8K9H2	Nonsense_Mutation	SNP	ENST00000262259.2	37	c.1043C>A	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037250	0.75617	.	.	ENSG00000105497	ENST00000262259	.	.	.	2.3	2.3	0.28687	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3461	0.21351	0.2937:0.7063:0.0:0.0	.	.	.	.	X	348	.	ENSP00000262259:S348X	S	+	2	0	ZNF175	56782439	0.000000	0.05858	0.056000	0.19401	0.152000	0.21847	0.534000	0.23098	1.614000	0.50241	0.563000	0.77884	TCA		0.403	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		44	222	1	0	5.20837e-25	0.104719	7.00436e-25	44	222				
TMEM150B	284417	broad.mit.edu	37	19	55831513	55831513	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:55831513C>A	ENST00000326652.4	-	6	400	c.218G>T	c.(217-219)cGt>cTt	p.R73L	TMEM150B_ENST00000438693.1_Missense_Mutation_p.R73L	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	73						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CTGGTGGTAACGGACAATGCA	0.622																																							uc010esw.1		NA																	0					0						c.(217-219)CGT>CTT		transmembrane protein 150B precursor							95.0	96.0	96.0					19																	55831513		1991	4159	6150	SO:0001583	missense	284417					integral to membrane		g.chr19:55831513C>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.218G>T	19.37:g.55831513C>A	ENSP00000320757:p.Arg73Leu					TMEM150B_uc010yfu.1_Missense_Mutation_p.R73L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.R73L	p.R73L	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			6	391	-			73			Cytoplasmic (Potential).		B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.218G>T	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	26.2	4.712111	0.89112	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.50001	0.76;0.76	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77392	-0.2605	10	0.51188	T	0.08	-15.3187	13.9045	0.63826	0.0:1.0:0.0:0.0	.	73	A6NC51	T150B_HUMAN	L	73	ENSP00000320757:R73L;ENSP00000412658:R73L	ENSP00000320757:R73L	R	-	2	0	TMEM150B	60523325	0.994000	0.37717	1.000000	0.80357	0.970000	0.65996	2.741000	0.47426	2.431000	0.82371	0.561000	0.74099	CGT		0.622	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		55	338	1	0	1.85257e-25	0.139131	2.52036e-25	55	338				
GALP	85569	broad.mit.edu	37	19	56693610	56693610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:56693610G>A	ENST00000357330.2	+	4	288	c.206G>A	c.(205-207)tGg>tAg	p.W69*	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	69					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTAGACCTGTGGAAGGCCATC	0.582																																							uc002qmo.1		NA																	0					0						c.(205-207)TGG>TAG		galanin-like peptide isoform 1 precursor							168.0	142.0	151.0					19																	56693610		2203	4300	6503	SO:0001587	stop_gained	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56693610G>A	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.206G>A	19.37:g.56693610G>A	ENSP00000349884:p.Trp69*					GALP_uc010eti.2_3'UTR	p.W69*	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	4	288	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	69					A1KXL3	Nonsense_Mutation	SNP	ENST00000357330.2	37	c.206G>A	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093452	0.56075	.	.	ENSG00000197487	ENST00000357330	.	.	.	1.87	1.87	0.25490	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7497	7.2572	0.26183	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000349884:W69X	W	+	2	0	GALP	61385422	0.997000	0.39634	0.968000	0.41197	0.194000	0.23727	1.967000	0.40491	1.349000	0.45751	0.467000	0.42956	TGG		0.582	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		14	108	0	0	0	0.043863	0	14	108				
FAM179A	165186	broad.mit.edu	37	2	29225560	29225560	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:29225560G>T	ENST00000379558.4	+	5	937	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	FAM179A_ENST00000403861.2_Missense_Mutation_p.D196Y	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	196										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGGCCTGGACCTACCGGG	0.622																																							uc010ezl.2		NA																	0				ovary(3)|skin(1)	4						c.(586-588)GAC>TAC		hypothetical protein LOC165186							31.0	38.0	36.0					2																	29225560		1997	4168	6165	SO:0001583	missense	165186						binding	g.chr2:29225560G>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.586G>T	2.37:g.29225560G>T	ENSP00000368876:p.Asp196Tyr					FAM179A_uc010ymm.1_Missense_Mutation_p.D196Y	p.D196Y	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			5	937	+			196					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.586G>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068700	0.55539	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14766	2.7;2.48	5.03	5.03	0.67393	.	.	.	.	.	T	0.22704	0.0548	L	0.29908	0.895	0.32170	N	0.581825	D;D	0.65815	0.995;0.991	D;P	0.63192	0.912;0.77	T	0.05566	-1.0877	9	0.33141	T	0.24	.	13.87	0.63612	0.0:0.0:1.0:0.0	.	196;196	F8W8E4;Q6ZUX3	.;F179A_HUMAN	Y	196	ENSP00000368876:D196Y;ENSP00000384699:D196Y	ENSP00000368876:D196Y	D	+	1	0	FAM179A	29079064	0.747000	0.28283	0.984000	0.44739	0.461000	0.32589	3.317000	0.51968	2.319000	0.78375	0.555000	0.69702	GAC		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		19	93	1	0	1.56452e-12	0.043863	2.05673e-12	19	93				
MYEOV2	150678	broad.mit.edu	37	2	241066016	241066016	+	Silent	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:241066016C>T	ENST00000307266.3	-	5	722	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TGGTCTTCTTCCCTTCTTCTC	0.438																																							uc002vyu.1		NA																	0					0						c.(721-723)GGG>GGA		hypothetical protein LOC150678 isoform 1							132.0	108.0	116.0					2																	241066016		2203	4300	6503	SO:0001819	synonymous_variant	150678							g.chr2:241066016C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.723G>A	2.37:g.241066016C>T							p.G241G	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	723	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Error:Variant_position_missing_in_Q8WXC6_after_alignment					Q8N110	Silent	SNP	ENST00000307266.3	37	c.723G>A	CCDS2532.1																																																																																				0.438	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		42	232	0	0	0	0.11126	0	42	232				
INSM1	3642	broad.mit.edu	37	20	20349683	20349683	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:20349683G>A	ENST00000310227.1	+	1	919	c.772G>A	c.(772-774)Ggg>Agg	p.G258R		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	258					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		gggccgcgcggggggcgcggc	0.716																																							uc002wrx.2		NA																	0				ovary(1)	1						c.(772-774)GGG>AGG		insulinoma-associated 1							4.0	5.0	5.0					20																	20349683		1851	3661	5512	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349683G>A		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.772G>A	20.37:g.20349683G>A	ENSP00000312631:p.Gly258Arg						p.G258R	NM_002196	NP_002187	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	919	+			258						Missense_Mutation	SNP	ENST00000310227.1	37	c.772G>A	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135451	0.37728	.	.	ENSG00000173404	ENST00000310227	T	0.00801	5.68	3.53	2.45	0.29901	.	0.463064	0.18239	U	0.147284	T	0.01940	0.0061	L	0.39898	1.24	0.38476	D	0.947582	D	0.61697	0.99	P	0.56343	0.796	T	0.71031	-0.4710	10	0.36615	T	0.2	.	10.1662	0.42882	0.0:0.2056:0.7944:0.0	.	258	Q01101	INSM1_HUMAN	R	258	ENSP00000312631:G258R	ENSP00000312631:G258R	G	+	1	0	INSM1	20297683	0.065000	0.20965	0.022000	0.16811	0.362000	0.29581	2.369000	0.44231	1.699000	0.51192	0.306000	0.20318	GGG		0.716	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		8	37	0	0	0	0.038147	0	8	37				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																							uc010ztl.1		NA																	4	Substitution - Missense(4)		prostate(4)		0						c.(28-30)ATC>ACC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.I10T							2	61	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.29T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	164	0	0	0	0.11911	0	9	164				
TRPM2	7226	broad.mit.edu	37	21	45861686	45861686	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr21:45861686G>A	ENST00000397928.1	+	32	4943	c.4498G>A	c.(4498-4500)Ggg>Agg	p.G1500R	snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1446R|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1550R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.G1500R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1500					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCTGAGTTCGGGGCTCACTA	0.637																																							uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4498-4500)GGG>AGG		transient receptor potential cation channel,							87.0	60.0	69.0					21																	45861686		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45861686G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4498G>A	21.37:g.45861686G>A	ENSP00000381023:p.Gly1500Arg					TRPM2_uc002zeu.1_Missense_Mutation_p.G1500R|TRPM2_uc002zew.1_Missense_Mutation_p.G1500R|TRPM2_uc010gpt.1_Missense_Mutation_p.G1550R|TRPM2_uc002zex.1_Missense_Mutation_p.G1286R|TRPM2_uc002zey.1_Missense_Mutation_p.G979R|TRPM2_uc011aff.1_Missense_Mutation_p.G181R	p.G1500R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			33	4711	+			1500			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4498G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900695	0.33535	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.29	3.41	0.39046	NUDIX hydrolase domain-like (1);	0.415067	0.24096	N	0.041593	T	0.26810	0.0656	M	0.61703	1.905	0.09310	N	1	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	P;P;P;P	0.62649	0.905;0.806;0.738;0.738	T	0.04976	-1.0914	10	0.27082	T	0.32	-13.6928	9.7694	0.40580	0.0993:0.0:0.9007:0.0	.	181;1550;1286;1500	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	R	1500;1500;1446;1550;244	ENSP00000300482:G1500R;ENSP00000381023:G1500R;ENSP00000300481:G1446R;ENSP00000381026:G1550R	ENSP00000300481:G1446R	G	+	1	0	TRPM2	44686114	0.862000	0.29867	0.015000	0.15790	0.044000	0.14063	3.367000	0.52350	1.167000	0.42706	0.655000	0.94253	GGG		0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		56	106	0	0	0	0.139131	0	56	106				
IL17RD	54756	broad.mit.edu	37	3	57132270	57132270	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:57132270G>A	ENST00000296318.7	-	12	1549	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D|IL17RD_ENST00000463523.1_Silent_p.D343D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	487	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGGGGACGTCTCCCTCGC	0.567																																							uc003dil.2		NA																	0					0						c.(1459-1461)GAC>GAT		interleukin 17 receptor D precursor							63.0	56.0	58.0					3																	57132270		2203	4300	6503	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132270G>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1461C>T	3.37:g.57132270G>A						IL17RD_uc003dik.2_Silent_p.D463D|IL17RD_uc010hna.2_Silent_p.D343D|IL17RD_uc011bex.1_Silent_p.D343D	p.D487D	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1550	-			487			SEFIR.|Cytoplasmic (Potential).		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.1461C>T	CCDS2880.2																																																																																				0.567	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		7	82	0	0	0	0.02938	0	7	82				
EIF4G1	1981	broad.mit.edu	37	3	184049748	184049748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:184049748C>T	ENST00000346169.2	+	32	4763	c.4492C>T	c.(4492-4494)Cga>Tga	p.R1498*	EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R1505*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R1302*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R1459*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R1505*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.R1499*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R1412*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R1505*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R1498*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R1335*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R1458*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R1411*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R1303*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R1334*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1498	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACTCCCCTCCGAGTGGACGT	0.582																																							uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(4492-4494)CGA>TGA		eukaryotic translation initiation factor 4							67.0	68.0	67.0					3																	184049748		2203	4300	6503	SO:0001587	stop_gained	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184049748C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4492C>T	3.37:g.184049748C>T	ENSP00000316879:p.Arg1498*					EIF4G1_uc003fnt.2_Nonsense_Mutation_p.R1209*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.R1411*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.R1334*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.R1505*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.R1458*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.R1505*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.R1499*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.R1498*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.R1505*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.R1303*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.R1302*|EIF4G1_uc003foa.2_Nonsense_Mutation_p.R170*	p.R1498*	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		32	4690	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1498			W2.|EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	c.4492C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	42	9.414765	0.99164	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.	.	.	4.78	3.87	0.44632	.	0.295132	0.28983	N	0.013505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7499	11.6123	0.51066	0.3237:0.6763:0.0:0.0	.	.	.	.	X	1498;1458;1411;1505;1334;1505;1412;1499;1498;1505;1459;1335;1303;1302	.	ENSP00000323737:R1498X	R	+	1	2	EIF4G1	185532442	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.813000	0.48002	0.936000	0.37367	0.449000	0.29647	CGA		0.582	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		10	235	0	0	0	0.058154	0	10	235				
MFSD8	256471	broad.mit.edu	37	4	128861025	128861025	+	Silent	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr4:128861025C>T	ENST00000296468.3	-	7	808	c.681G>A	c.(679-681)ctG>ctA	p.L227L	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000513559.1_Silent_p.L182L	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	227					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TGGCAAGGATCAGAATAATAT	0.308																																							uc003ifp.2		NA																	0				ovary(1)|liver(1)	2						c.(679-681)CTG>CTA		major facilitator superfamily domain containing							73.0	78.0	77.0					4																	128861025		2203	4298	6501	SO:0001819	synonymous_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128861025C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.681G>A	4.37:g.128861025C>T						MFSD8_uc011cgu.1_Silent_p.L182L|MFSD8_uc011cgv.1_Silent_p.L189L|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Intron	p.L227L	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			7	844	-			227			Helical; (Potential).		B2RDM1|B7Z205|Q8N2P3	Silent	SNP	ENST00000296468.3	37	c.681G>A	CCDS3736.1																																																																																				0.308	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		19	171	0	0	0	0.069288	0	19	171				
TRIO	7204	broad.mit.edu	37	5	14482836	14482836	+	Missense_Mutation	SNP	A	A	G	rs141648983	byFrequency	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:14482836A>G	ENST00000344204.4	+	46	6635	c.6611A>G	c.(6610-6612)aAg>aGg	p.K2204R	TRIO_ENST00000537187.1_Missense_Mutation_p.K2204R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2204	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTGATAAAAAGAAGGGCTTC	0.498																																							uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(6610-6612)AAG>AGG		triple functional domain (PTPRF interacting)		A	ARG/LYS	0,4406		0,0,2203	120.0	119.0	119.0		6611	5.0	1.0	5	dbSNP_134	119	10,8590	7.7+/-29.5	0,10,4290	yes	missense	TRIO	NM_007118.2	26	0,10,6493	GG,GA,AA		0.1163,0.0,0.0769	possibly-damaging	2204/3098	14482836	10,12996	2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14482836A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6611A>G	5.37:g.14482836A>G	ENSP00000339299:p.Lys2204Arg					TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.K1853R	p.K2204R	NM_007118	NP_009049	O75962	TRIO_HUMAN			46	6617	+	Lung NSC(4;0.000742)		2204			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6611A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012977	0.54468	0.0	0.001163	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.13089	2.62;2.62	5.0	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.31664	0.95	0.80722	D	1	P;D	0.63880	0.805;0.993	P;D	0.70935	0.653;0.971	T	0.01729	-1.1286	10	0.36615	T	0.2	.	15.0106	0.71547	1.0:0.0:0.0:0.0	.	2204;2204	O75962-5;O75962	.;TRIO_HUMAN	R	2204;2204;1891	ENSP00000339299:K2204R;ENSP00000446348:K2204R	ENSP00000339299:K2204R	K	+	2	0	TRIO	14535836	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	9.283000	0.95860	1.978000	0.57642	0.459000	0.35465	AAG		0.498	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		6	328	0	0	0	0.021553	0	6	328				
FAT2	2196	broad.mit.edu	37	5	150922824	150922824	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:150922824A>G	ENST00000261800.5	-	9	7876	c.7864T>C	c.(7864-7866)Tac>Cac	p.Y2622H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2622	Cadherin 23. {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)			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)			TTCACTGAGTAGGTGACATCT	0.453																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(7864-7866)TAC>CAC		FAT tumor suppressor 2 precursor							197.0	193.0	195.0					5																	150922824		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922824A>G	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.7864T>C	5.37:g.150922824A>G	ENSP00000261800:p.Tyr2622His					GM2A_uc011dcs.1_Intron	p.Y2622H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7877	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2622			Cadherin 23.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7864T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968423	0.53614	.	.	ENSG00000086570	ENST00000261800	T	0.62941	-0.01	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000028	D	0.88024	0.6326	H	0.99156	4.45	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.93053	0.6467	10	0.87932	D	0	.	15.3622	0.74487	1.0:0.0:0.0:0.0	.	2622	Q9NYQ8	FAT2_HUMAN	H	2622	ENSP00000261800:Y2622H	ENSP00000261800:Y2622H	Y	-	1	0	FAT2	150903017	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.262000	0.95591	2.028000	0.59812	0.379000	0.24179	TAC		0.453	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		87	457	0	0	0	0.139131	0	87	457				
DSP	1832	broad.mit.edu	37	6	7581318	7581318	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:7581318A>T	ENST00000379802.3	+	23	5236	c.4895A>T	c.(4894-4896)gAc>gTc	p.D1632V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1632	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTGAGGATGACCTCCGGCAG	0.582																																							uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(4894-4896)GAC>GTC		desmoplakin isoform I							54.0	52.0	53.0					6																	7581318		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581318A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4895A>T	6.37:g.7581318A>T	ENSP00000369129:p.Asp1632Val					DSP_uc003mxq.1_Intron	p.D1632V	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5174	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1632			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4895A>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917903	0.52546	.	.	ENSG00000096696	ENST00000379802	T	0.79653	-1.29	6.02	6.02	0.97574	.	0.084479	0.50627	D	0.000116	T	0.66992	0.2846	L	0.40543	1.245	0.80722	D	1	B	0.34329	0.449	B	0.36885	0.235	T	0.68469	-0.5400	10	0.32370	T	0.25	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1632	P15924	DESP_HUMAN	V	1632	ENSP00000369129:D1632V	ENSP00000369129:D1632V	D	+	2	0	DSP	7526317	1.000000	0.71417	0.972000	0.41901	0.899000	0.52679	8.885000	0.92439	2.311000	0.77944	0.533000	0.62120	GAC		0.582	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		20	229	0	0	0	0.049695	0	20	229				
BTBD9	114781	broad.mit.edu	37	6	38224278	38224278	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:38224278T>C	ENST00000481247.1	-	9	1620	c.1469A>G	c.(1468-1470)gAt>gGt	p.D490G	BTBD9_ENST00000408958.1_Missense_Mutation_p.D422G|BTBD9_ENST00000403056.1_Missense_Mutation_p.D490G|BTBD9_ENST00000314100.6_Missense_Mutation_p.D422G|BTBD9_ENST00000419706.2_Missense_Mutation_p.D460G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	490					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATCATCACAATCCCAAAGTAG	0.423																																							uc003ooa.3		NA																	0					0						c.(1468-1470)GAT>GGT		BTB (POZ) domain containing 9 isoform a							92.0	86.0	88.0					6																	38224278		1870	4100	5970	SO:0001583	missense	114781				cell adhesion			g.chr6:38224278T>C		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1469A>G	6.37:g.38224278T>C	ENSP00000418751:p.Asp490Gly					BTBD9_uc003ony.3_Missense_Mutation_p.D422G|BTBD9_uc010jwv.2_Missense_Mutation_p.D451G|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.D490G	p.D490G	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN			10	2045	-			490					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.1469A>G	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562256	0.65538	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.97	4.97	0.65823	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	M	0.88704	2.975	0.80722	D	1	D;D	0.69078	0.987;0.997	D;D	0.79108	0.951;0.992	D	0.89237	0.3581	10	0.59425	D	0.04	.	13.8071	0.63238	0.0:0.0:0.0:1.0	.	460;490	Q494V9;Q96Q07	.;BTBD9_HUMAN	G	422;490;460;490;422	ENSP00000323408:D422G;ENSP00000418751:D490G;ENSP00000415365:D460G;ENSP00000386121:D490G;ENSP00000386211:D422G	ENSP00000323408:D422G	D	-	2	0	BTBD9	38332256	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.827000	0.75303	2.090000	0.63153	0.460000	0.39030	GAT		0.423	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		31	138	0	0	0	0.059317	0	31	138				
LRFN2	57497	broad.mit.edu	37	6	40359735	40359735	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:40359735C>A	ENST00000338305.6	-	3	2859	c.2317G>T	c.(2317-2319)Ggg>Tgg	p.G773W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	773						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCGGGCCCCCACCAGGTCA	0.632																																							uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(2317-2319)GGG>TGG		leucine rich repeat and fibronectin type III							42.0	44.0	43.0					6																	40359735		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359735C>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2317G>T	6.37:g.40359735C>A	ENSP00000345985:p.Gly773Trp						p.G773W	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2782	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		773			Cytoplasmic (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2317G>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981123	0.53827	.	.	ENSG00000156564	ENST00000338305	T	0.58506	0.33	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	L	0.43923	1.385	0.43890	D	0.996514	D	0.67145	0.996	P	0.60068	0.868	T	0.65010	-0.6272	10	0.87932	D	0	.	17.4434	0.87572	0.0:1.0:0.0:0.0	.	773	Q9ULH4	LRFN2_HUMAN	W	773	ENSP00000345985:G773W	ENSP00000345985:G773W	G	-	1	0	LRFN2	40467713	0.997000	0.39634	1.000000	0.80357	0.922000	0.55478	3.931000	0.56529	2.466000	0.83321	0.555000	0.69702	GGG		0.632	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		33	175	1	0	9.93527e-08	0.054565	1.23662e-07	33	175				
DST	667	broad.mit.edu	37	6	56362211	56362211	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:56362211G>A	ENST00000361203.3	-	77	19236	c.19229C>T	c.(19228-19230)cCg>cTg	p.P6410L	DST_ENST00000370769.4_Missense_Mutation_p.P6521L|DST_ENST00000370788.2_Missense_Mutation_p.P4324L|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.P4107L|DST_ENST00000421834.2_Missense_Mutation_p.P4433L|DST_ENST00000370754.5_Missense_Mutation_p.P6699L|DST_ENST00000446842.2_Missense_Mutation_p.P6195L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6410					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTGTTTCCGGTAAACCTCC	0.483																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(13831-13833)CCG>CTG		dystonin isoform 2							97.0	95.0	96.0					6																	56362211		1975	4170	6145	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56362211G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19229C>T	6.37:g.56362211G>A	ENSP00000354508:p.Pro6410Leu					DST_uc003pcz.3_Missense_Mutation_p.P4433L|DST_uc011dxj.1_Missense_Mutation_p.P4462L|DST_uc011dxk.1_Missense_Mutation_p.P4473L|DST_uc003pcy.3_Missense_Mutation_p.P4107L	p.P4611L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		76	13860	-	Lung NSC(77;0.103)		6519			Spectrin 16.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.13832C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.102908	0.76983	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.53	5.53	0.82687	.	0.000000	0.51477	D	0.000095	T	0.55321	0.1913	M	0.88640	2.97	0.33776	D	0.623697	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.987	T	0.59894	-0.7368	9	0.08179	T	0.78	.	19.4579	0.94903	0.0:0.0:1.0:0.0	.	4433;6521;6699;6519;4107	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	4107;6699;6521;4433;6195;4324;6410	ENSP00000244364:P4107L;ENSP00000359790:P6699L;ENSP00000359805:P6521L;ENSP00000400883:P4433L;ENSP00000393645:P6195L;ENSP00000359824:P4324L;ENSP00000354508:P6410L	ENSP00000244364:P4107L	P	-	2	0	DST	56470170	1.000000	0.71417	0.992000	0.48379	0.816000	0.46133	9.835000	0.99442	2.593000	0.87608	0.467000	0.42956	CCG		0.483	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		8	322	0	0	0	0.047766	0	8	322				
DST	667	broad.mit.edu	37	6	56438682	56438682	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:56438682T>C	ENST00000361203.3	-	47	12405	c.12398A>G	c.(12397-12399)gAc>gGc	p.D4133G	DST_ENST00000370769.4_Missense_Mutation_p.D4135G|DST_ENST00000370788.2_Missense_Mutation_p.D2047G|DST_ENST00000244364.6_Missense_Mutation_p.D1721G|DST_ENST00000421834.2_Missense_Mutation_p.D2047G|DST_ENST00000370754.5_Missense_Mutation_p.D4313G|DST_ENST00000446842.2_Missense_Mutation_p.D3809G|DST_ENST00000312431.6_Missense_Mutation_p.D4133G			Q03001	DYST_HUMAN	dystonin	4133					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCAACAATGTCATCTACTCC	0.398																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6673-6675)GAC>GGC		dystonin isoform 2							97.0	90.0	92.0					6																	56438682		1892	4119	6011	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56438682T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12398A>G	6.37:g.56438682T>C	ENSP00000354508:p.Asp4133Gly					DST_uc003pcz.3_Missense_Mutation_p.D2047G|DST_uc011dxj.1_Missense_Mutation_p.D2076G|DST_uc011dxk.1_Missense_Mutation_p.D2087G|DST_uc003pcy.3_Missense_Mutation_p.D1721G|DST_uc010kaa.1_RNA	p.D2225G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		45	6702	-	Lung NSC(77;0.103)		4133			Spectrin 3.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6674A>G		.	.	.	.	.	.	.	.	.	.	T	17.19	3.326876	0.60743	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000037	T	0.50411	0.1614	L	0.42245	1.32	0.28066	N	0.932763	P;D;D;D;B	0.76494	0.916;0.999;0.998;0.977;0.003	P;D;D;P;B	0.81914	0.674;0.995;0.988;0.756;0.011	T	0.56263	-0.8008	9	0.49607	T	0.09	.	12.8711	0.57965	0.0:0.0:0.1357:0.8643	.	2047;4135;4313;4133;1721	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	1721;4313;4135;2047;3809;4133;2047;4133	ENSP00000244364:D1721G;ENSP00000359790:D4313G;ENSP00000359805:D4135G;ENSP00000400883:D2047G;ENSP00000393645:D3809G;ENSP00000307959:D4133G;ENSP00000359824:D2047G;ENSP00000354508:D4133G	ENSP00000244364:D1721G	D	-	2	0	DST	56546641	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.943000	0.56621	2.276000	0.75962	0.528000	0.53228	GAC		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		3	103	0	0	0	0.115264	0	3	103				
HUS1	3364	broad.mit.edu	37	7	48007448	48007448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:48007448G>A	ENST00000258774.5	-	7	738	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.Q218*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	239					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GCAAGAAACTGTAGGAGCTTC	0.388								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	Ovarian(103;466 1517 21788 34610 43890)	uc003tod.1		NA																	0				ovary(2)|lung(2)|kidney(1)	5						c.(715-717)CAG>TAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	HUS1 checkpoint protein							177.0	157.0	164.0					7																	48007448		2203	4300	6503	SO:0001587	stop_gained	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48007448G>A	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.715C>T	7.37:g.48007448G>A	ENSP00000258774:p.Gln239*					HUS1_uc003toe.1_Nonsense_Mutation_p.Q239*|HUS1_uc011kce.1_RNA	p.Q239*	NM_004507	NP_004498	O60921	HUS1_HUMAN			7	845	-		Breast(660;0.00139)	239					B4DFI9	Nonsense_Mutation	SNP	ENST00000258774.5	37	c.715C>T	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446322	0.96187	.	.	ENSG00000136273	ENST00000258774;ENST00000432325	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-14.0558	16.9133	0.86145	0.0:0.0:1.0:0.0	.	.	.	.	X	239;218	.	ENSP00000258774:Q239X	Q	-	1	0	HUS1	47973973	1.000000	0.71417	0.883000	0.34634	0.996000	0.88848	7.540000	0.82074	2.651000	0.90000	0.650000	0.86243	CAG		0.388	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		25	168	0	0	0	0.108266	0	25	168				
ZAN	7455	broad.mit.edu	37	7	100391521	100391521	+	RNA	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:100391521C>T	ENST00000348028.3	+	0	8016				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_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)				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)			TGGCAGACCCCGGGGACTGCG	0.637																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7867-7869)CGG>TGG		zonadhesin isoform 3							60.0	65.0	64.0					7																	100391521		2038	4187	6225			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100391521C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391521C>T						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_Intron|ZAN_uc010lhi.2_Intron|ZAN_uc011kke.1_Intron	p.R2623W	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		44	8032	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2623			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.7867C>T																																																																																					0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		29	234	0	0	0	0.144211	0	29	234				
GBX1	2636	broad.mit.edu	37	7	150845685	150845685	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:150845685G>A	ENST00000297537.4	-	2	1082	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	361					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCAGGGCCGGGCCCCCTGCT	0.582																																							uc011kvg.1		NA																	0					0						c.(1081-1083)GCC>GCT		gastrulation brain homeo box 1							32.0	34.0	33.0					7																	150845685		1923	4120	6043	SO:0001819	synonymous_variant	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845685G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.1083C>T	7.37:g.150845685G>A							p.A361A	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1315	-			361						Silent	SNP	ENST00000297537.4	37	c.1083C>T	CCDS43682.1																																																																																				0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			8	166	0	0	0	0.038147	0	8	166				
PDLIM2	64236	broad.mit.edu	37	8	22442336	22442336	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:22442336C>G	ENST00000397760.4	+	4	648	c.248C>G	c.(247-249)tCt>tGt	p.S83C	PDLIM2_ENST00000265810.4_Missense_Mutation_p.S83C|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S83C|PDLIM2_ENST00000339162.7_Missense_Mutation_p.S83C|PDLIM2_ENST00000308354.7_Missense_Mutation_p.S333C|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S83C|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S83C			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	83	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTTCTCAGGTCTCAGGCTACG	0.587																																							uc003xby.2		NA																	0					0						c.(247-249)TCT>TGT		PDZ and LIM domain 2 isoform 2							112.0	93.0	99.0					8																	22442336		2203	4300	6503	SO:0001583	missense	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22442336C>G	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.248C>G	8.37:g.22442336C>G	ENSP00000380867:p.Ser83Cys					PDLIM2_uc003xbx.1_Missense_Mutation_p.S83C|PDLIM2_uc003xbz.2_Missense_Mutation_p.S83C|PDLIM2_uc003xca.2_Missense_Mutation_p.S83C|PDLIM2_uc003xcb.2_Missense_Mutation_p.S83C|PDLIM2_uc003xcc.1_Missense_Mutation_p.S83C	p.S83C	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	4	648	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	83			PDZ.		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37	c.248C>G		.	.	.	.	.	.	.	.	.	.	C	15.86	2.957257	0.53400	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.07	5.07	0.68467	PDZ/DHR/GLGF (3);	0.338813	0.26967	N	0.021595	T	0.53965	0.1829	L	0.60904	1.88	0.39310	D	0.965066	D;D;D;D	0.67145	0.992;0.996;0.992;0.993	P;P;P;P	0.56216	0.794;0.794;0.62;0.628	T	0.58803	-0.7572	10	0.62326	D	0.03	-9.7703	14.3002	0.66341	0.0:1.0:0.0:0.0	.	83;83;83;83	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	C	83;333;83;83;83;83;83;83;83;83;83;83;83	ENSP00000401992:S83C;ENSP00000312634:S333C;ENSP00000394376:S83C;ENSP00000380867:S83C;ENSP00000342035:S83C;ENSP00000380868:S83C;ENSP00000397738:S83C;ENSP00000392920:S83C;ENSP00000407643:S83C;ENSP00000386868:S83C;ENSP00000265810:S83C;ENSP00000387084:S83C	ENSP00000265810:S83C	S	+	2	0	PDLIM2	22498281	0.983000	0.35010	0.739000	0.30968	0.018000	0.09664	3.134000	0.50538	2.514000	0.84764	0.591000	0.81541	TCT		0.587	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			46	252	0	0	0	0.139131	0	46	252				
PDLIM2	64236	broad.mit.edu	37	8	22442594	22442594	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:22442594C>T	ENST00000397760.4	+	5	780	c.380C>T	c.(379-381)tCc>tTc	p.S127F	PDLIM2_ENST00000265810.4_Missense_Mutation_p.S127F|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S127F|PDLIM2_ENST00000339162.7_Missense_Mutation_p.S127F|PDLIM2_ENST00000308354.7_Missense_Mutation_p.S377F|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S127F|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S127F			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	127	Ser-rich.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCCCAACCTCCCTCAGCCCG	0.622																																							uc003xby.2		NA																	0					0						c.(379-381)TCC>TTC		PDZ and LIM domain 2 isoform 2							73.0	71.0	72.0					8																	22442594		2203	4300	6503	SO:0001583	missense	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22442594C>T	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.380C>T	8.37:g.22442594C>T	ENSP00000380867:p.Ser127Phe					PDLIM2_uc003xbx.1_Missense_Mutation_p.S127F|PDLIM2_uc003xbz.2_Missense_Mutation_p.S127F|PDLIM2_uc003xca.2_Missense_Mutation_p.S127F|PDLIM2_uc003xcb.2_Missense_Mutation_p.S127F|PDLIM2_uc003xcc.1_Missense_Mutation_p.S127F	p.S127F	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	5	780	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	127			Ser-rich.		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37	c.380C>T		.	.	.	.	.	.	.	.	.	.	C	14.42	2.530458	0.45073	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.64	4.77	0.60923	.	0.366747	0.25307	N	0.031606	T	0.18045	0.0433	M	0.72118	2.19	0.32808	D	0.501019	B;B;B;B	0.25007	0.019;0.019;0.011;0.116	B;B;B;B	0.23852	0.022;0.022;0.01;0.049	T	0.12502	-1.0545	10	0.87932	D	0	-12.0317	10.7018	0.45931	0.0:0.9121:0.0:0.0879	.	127;127;127;127	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	F	127;377;127;127;127;127;127;127;127;127;127;127;127	ENSP00000401992:S127F;ENSP00000312634:S377F;ENSP00000394376:S127F;ENSP00000380867:S127F;ENSP00000342035:S127F;ENSP00000380868:S127F;ENSP00000397738:S127F;ENSP00000392920:S127F;ENSP00000407643:S127F;ENSP00000386868:S127F;ENSP00000265810:S127F;ENSP00000387084:S127F	ENSP00000265810:S127F	S	+	2	0	PDLIM2	22498539	1.000000	0.71417	0.969000	0.41365	0.004000	0.04260	2.597000	0.46214	1.389000	0.46526	0.655000	0.94253	TCC		0.622	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			67	376	0	0	0	0.139131	0	67	376				
LACTB2	51110	broad.mit.edu	37	8	71570008	71570008	+	Silent	SNP	A	A	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:71570008A>C	ENST00000276590.4	-	3	432	c.396T>G	c.(394-396)acT>acG	p.T132T	RN7SL19P_ENST00000462522.2_RNA|LACTB2_ENST00000522447.1_Silent_p.T132T|RP11-382J12.1_ENST00000499227.2_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	132						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGGCTCCCTCAGTCTTAATCA	0.398																																							uc011lfd.1		NA																	0				ovary(1)	1						c.(394-396)ACT>ACG		lactamase, beta 2							174.0	160.0	165.0					8																	71570008		2203	4300	6503	SO:0001819	synonymous_variant	51110						hydrolase activity|metal ion binding	g.chr8:71570008A>C	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.396T>G	8.37:g.71570008A>C						LACTB2_uc003xyp.2_Silent_p.T132T	p.T132T	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	488	-	Breast(64;0.0716)		132					A8K2D6|Q9Y392	Silent	SNP	ENST00000276590.4	37	c.396T>G	CCDS6208.1																																																																																				0.398	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		20	314	0	0	0	0.069288	0	20	314				
ZFHX4	79776	broad.mit.edu	37	8	77616928	77616928	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:77616928G>T	ENST00000521891.2	+	2	1053	c.605G>T	c.(604-606)gGg>gTg	p.G202V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G202V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G202V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G202V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	202					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)			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)			TCATCCCTCGGGAAACCATTT	0.488										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(604-606)GGG>GTG		zinc finger homeodomain 4							85.0	79.0	81.0					8																	77616928		1974	4168	6142	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616928G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.605G>T	8.37:g.77616928G>T	ENSP00000430497:p.Gly202Val	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G202V|ZFHX4_uc003yau.1_Missense_Mutation_p.G202V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G202V	p.G202V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	992	+			202					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.605G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408032	0.42715	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53640	0.61;0.65;0.61;0.61	5.42	5.42	0.78866	.	0.000000	0.45361	U	0.000372	T	0.67458	0.2895	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;1.0;1.0;0.982	T	0.68085	-0.5502	10	0.72032	D	0.01	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	202;202;202;202	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	202	ENSP00000430497:G202V;ENSP00000399605:G202V;ENSP00000050961:G202V;ENSP00000430848:G202V	ENSP00000050961:G202V	G	+	2	0	ZFHX4	77779483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.821000	0.97095	0.650000	0.86243	GGG		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	113	1	0	9.16793e-09	0.0333	1.15338e-08	18	113				
TMEM55A	55529	broad.mit.edu	37	8	92033563	92033563	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:92033563C>T	ENST00000285419.3	-	2	490	c.176G>A	c.(175-177)cGt>cAt	p.R59H	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	59						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TTGGCACACACGGCAGTTTAT	0.458																																							uc003yes.2		NA																	0					0						c.(175-177)CGT>CAT		transmembrane protein 55A							129.0	117.0	121.0					8																	92033563		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92033563C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.176G>A	8.37:g.92033563C>T	ENSP00000285419:p.Arg59His						p.R59H	NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		2	402	-			59					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.176G>A	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337480	0.95758	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.79296	-0.1862	9	0.87932	D	0	-15.3161	19.3137	0.94202	0.0:1.0:0.0:0.0	.	59	Q8N4L2	TM55A_HUMAN	H	59;65	.	ENSP00000285419:R59H	R	-	2	0	TMEM55A	92102739	1.000000	0.71417	0.969000	0.41365	0.940000	0.58332	7.320000	0.79064	2.788000	0.95919	0.650000	0.86243	CGT		0.458	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		18	264	0	0	0	0.043863	0	18	264				
KCNK9	51305	broad.mit.edu	37	8	140631199	140631199	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:140631199T>C	ENST00000520439.1	-	2	490	c.427A>G	c.(427-429)Att>Gtt	p.I143V	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.I143V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	143					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CACTTCTTAATGCGCTTCAGC	0.592																																							uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(427-429)ATT>GTT		potassium channel, subfamily K, member 9							123.0	96.0	105.0					8																	140631199		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631199T>C	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.427A>G	8.37:g.140631199T>C	ENSP00000430676:p.Ile143Val					KCNK9_uc003yvg.1_Missense_Mutation_p.I143V|KCNK9_uc003yve.1_RNA	p.I143V	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	491	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	143			Cytoplasmic (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.427A>G	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	T	0.623	-0.820316	0.02755	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.22539	1.95;1.95;1.95	5.85	2.2	0.27929	.	0.249479	0.39909	N	0.001226	T	0.07863	0.0197	N	0.12182	0.205	0.43714	D	0.99618	B	0.06786	0.001	B	0.08055	0.003	T	0.29366	-1.0014	10	0.02654	T	1	.	5.3939	0.16259	0.0:0.1449:0.2816:0.5735	.	143	Q9NPC2	KCNK9_HUMAN	V	143	ENSP00000429847:I143V;ENSP00000302166:I143V;ENSP00000430676:I143V	ENSP00000302166:I143V	I	-	1	0	KCNK9	140700381	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	3.827000	0.55745	0.455000	0.26910	-0.313000	0.08912	ATT		0.592	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		11	86	0	0	0	0.09319	0	11	86				
SPATA31A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	byFrequency	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr9:43625382G>A	ENST00000332857.6	-	4	3333	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1102					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGTGAATAGGGGGAAACAT	0.483													G|||	2248	0.448882	0.3132	0.4625	5008	,	,		13804	0.6458		0.5	False		,,,				2504	0.3671						uc011lrb.1		NA																	0					0						c.(3304-3306)CCT>CTT		hypothetical protein LOC389730							1.0	2.0	2.0					9																	43625382		372	1032	1404	SO:0001583	missense	389730					integral to membrane		g.chr9:43625382G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3305C>T	9.37:g.43625382G>A	ENSP00000329825:p.Pro1102Leu						p.P1102L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3334	-			1102						Missense_Mutation	SNP	ENST00000332857.6	37	c.3305C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762340	0.31228	.	.	ENSG00000185775	ENST00000332857	T	0.04970	3.52	2.44	0.396	0.16309	.	1.512980	0.04100	N	0.312673	T	0.12860	0.0312	M	0.71206	2.165	0.80722	P	0.0	B	0.33044	0.395	B	0.42495	0.389	T	0.36648	-0.9739	9	0.56958	D	0.05	.	2.8448	0.05540	0.1624:0.0:0.5643:0.2733	.	1102	Q5VVP1	F75A6_HUMAN	L	1102	ENSP00000329825:P1102L	ENSP00000329825:P1102L	P	-	2	0	FAM75A6	43565378	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.063000	0.14410	0.111000	0.17947	0.383000	0.25322	CCT		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		9	414	0	0	0	0.11911	0	9	414				
PTPDC1	138639	broad.mit.edu	37	9	96859692	96859692	+	Missense_Mutation	SNP	A	A	T	rs143093313	byFrequency	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr9:96859692A>T	ENST00000375360.3	+	7	1022	c.682A>T	c.(682-684)Ata>Tta	p.I228L	PTPDC1_ENST00000288976.3_Missense_Mutation_p.I280L	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	228	Tyrosine-protein phosphatase.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						ACCCAATTCCATACAAACCAG	0.423																																							uc004auf.1		NA																	0				ovary(1)	1						c.(682-684)ATA>TTA		protein tyrosine phosphatase domain containing 1		A	LEU/ILE,LEU/ILE	0,4406		0,0,2203	83.0	81.0	82.0		838,682	5.6	1.0	9	dbSNP_134	82	4,8596		0,4,4296	yes	missense,missense	PTPDC1	NM_152422.3,NM_177995.1	5,5	0,4,6499	TT,TA,AA		0.0465,0.0,0.0308	probably-damaging,probably-damaging	280/807,228/755	96859692	4,13002	2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859692A>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.682A>T	9.37:g.96859692A>T	ENSP00000364509:p.Ile228Leu					PTPDC1_uc004aug.1_Missense_Mutation_p.I228L|PTPDC1_uc004auh.1_Missense_Mutation_p.I280L|PTPDC1_uc010mrj.1_Missense_Mutation_p.I282L|PTPDC1_uc010mri.1_Missense_Mutation_p.I280L	p.I228L	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			7	1022	+			228			Tyrosine-protein phosphatase.		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.682A>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	25.4	4.633255	0.87660	0.0	4.65E-4	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.23754	1.89;1.89	5.55	5.55	0.83447	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	M	0.75884	2.315	0.58432	D	0.999999	D;D;D;D	0.64830	0.994;0.993;0.994;0.994	D;D;D;D	0.72338	0.977;0.96;0.976;0.977	T	0.55685	-0.8102	10	0.87932	D	0	-21.9355	14.8653	0.70409	1.0:0.0:0.0:0.0	.	282;280;282;228	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	L	228;280	ENSP00000364509:I228L;ENSP00000288976:I280L	ENSP00000288976:I280L	I	+	1	0	PTPDC1	95899513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.767000	0.91732	2.110000	0.64415	0.482000	0.46254	ATA		0.423	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		5	230	0	0	0	0.021553	0	5	230				
DCAF8L2	347442	broad.mit.edu	37	X	27766045	27766045	+	Missense_Mutation	SNP	A	A	G	rs5926895	byFrequency	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chrX:27766045A>G	ENST00000451261.2	+	5	1432	c.1033A>G	c.(1033-1035)Acc>Gcc	p.T345A		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	345			T -> A (in dbSNP:rs5926895).							central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTTGTCTTCACCATTGACCT	0.478													A|||	627	0.166093	0.0613	0.1427	3775	,	,		14904	0.0575		0.2714	False		,,,				2504	0.1186						uc011mjy.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1033-1035)ACC>GCC		DDB1 and CUL4 associated factor 8-like 2		A	ALA/THR	164,1045		7,129,21,381,154	89.0	62.0	70.0		1033	0.1	0.0	X	dbSNP_114	70	886,1505		111,355,309,334,482	yes	missense	DCAF8L2	NM_001136533.1	58	118,484,330,715,636	GG,GA,G,AA,A		37.0556,13.5649,29.1667	benign	345/632	27766045	1050,2550	692	1591	2283	SO:0001583	missense	347442							g.chrX:27766045A>G		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1033A>G	X.37:g.27766045A>G	ENSP00000462745:p.Thr345Ala						p.T345A	NM_001136533	NP_001130005					1	1120	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1033A>G	CCDS59162.1																																																																																				0.478	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		3	87	0	0	0	0.014758	0	3	87				
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chrX:132458560G>A	ENST00000370828.3	-	3	848	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_ENST00000535467.1_Silent_p.F38F	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	108					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294																																							uc004exc.1		NA																	0					0						c.(322-324)TTC>TTT		glypican 4 precursor							75.0	81.0	79.0					X																	132458560		2200	4292	6492	SO:0001819	synonymous_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132458560G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.324C>T	X.37:g.132458560G>A						GPC4_uc011mvg.1_Silent_p.F38F	p.F108F	NM_001448	NP_001439	O75487	GPC4_HUMAN			3	536	-	Acute lymphoblastic leukemia(192;0.000127)		108					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	c.324C>T	CCDS14637.1																																																																																				0.294	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		27	378	0	0	0	0.116897	0	27	378				
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																							uc001aof.2		NA																	0				ovary(1)|skin(1)	2						c.(343-345)GAAfs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	p.E115fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	449_450	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	115					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		9	228	NA	NA	NA	NA	NA	9	228	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																							uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2407-2409)GAGfs		spen homolog, transcriptional regulator																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255142_16255143delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs					SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	p.E803fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	803			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.2407_2408delGA	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	282	NA	NA	NA	NA	NA	7	282	---	---	---	---
MST1L	11223	broad.mit.edu	37	1	17085590	17085595	+	RNA	DEL	GCGCTG	GCGCTG	-	rs371449598		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	GCGCTG	GCGCTG	-	-	GCGCTG	GCGCTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:17085590_17085595delGCGCTG	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.Q376_R377delQR(1)|p.Q366_R367delQR(1)									CAGCGGACCAGCGCTGGCACTGGACA	0.704																																							uc010ock.1		NA																	2	Deletion - In frame(2)		breast(2)		0						c.(1126-1131)CAGCGCdel		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17085590_17085595delGCGCTG	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.17085590_17085595delGCGCTG						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR	p.QR376del	NR_002729						9	1126_1131	-								B7WPB1|Q13209	In_Frame_Del	DEL	ENST00000455405.2	37	c.1126_1131delCAGCGC																																																																																					0.704	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		17	343	NA	NA	NA	NA	NA	17	343	---	---	---	---
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-	rs577226450		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	TTA	TTA	-	-	TTA	TTA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.I84del	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	84					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TTGAAAATACTTATTATTATTAT	0.305																																						Ovarian(178;223 2720 6667 9715)	uc001cvs.2		NA																	0				ovary(1)|pancreas(1)	2						c.(250-255)ATAAGT>AGT		transmembrane protein 48			,	223,4033		40,143,1945					,	4.0	1.0			44	436,7808		95,246,3781	no	coding,coding	TMEM48	NM_018087.4,NM_001168551.1	,	135,389,5726	A1A1,A1R,RR		5.2887,5.2397,5.272	,	,		659,11841				SO:0001651	inframe_deletion	55706				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	g.chr1:54298190_54298192delTTA	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.251_253delTAA	1.37:g.54298199_54298201delTTA	ENSP00000360483:p.Ile84del					TMEM48_uc010onu.1_In_Frame_Del_p.I84del|TMEM48_uc001cvt.2_5'UTR|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_5'UTR	p.I84del	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN			3	492_494	-			84			Helical; Name=2; (Potential).		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	In_Frame_Del	DEL	ENST00000371429.3	37	c.251_253delTAA	CCDS583.1																																																																																				0.305	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		7	151	NA	NA	NA	NA	NA	7	151	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				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)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																														uc001fes.2		NA																	0					0						c.(106-108)GAAdel		HCLS1 associated protein X-1 isoform a			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	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.chr1:154245864_154245866delGAA	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.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del	p.E40del	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	267_269	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		10	212	NA	NA	NA	NA	NA	10	212	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	CTG	CTG	-	-	CTG	CTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																							uc001iux.2		NA																	0				ovary(4)	4						c.(2572-2577)AGCAGT>AGT		hypothetical protein LOC57608				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_In_Frame_Del_p.720_721SS>S|KIAA1462_uc009xle.1_In_Frame_Del_p.858_859SS>S	p.858_859SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2633_2635	-			858_859			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	272	NA	NA	NA	NA	NA	12	272	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681686	55681713	+	Frame_Shift_Del	DEL	CCTTGTACCGATCAAAGGCCATCACTGA	CCTTGTACCGATCAAAGGCCATCACTGA	-	rs560416115|rs200989059|rs201325352|rs375398039		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	CCTTGTACCGATCAAAGGCCATCACTGA	CCTTGTACCGATCAAAGGCCATCACTGA	-	-	CCTTGTACCGATCAAAGGCCATCACTGA	CCTTGTACCGATCAAAGGCCATCACTGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:55681686_55681713delCCTTGTACCGATCAAAGGCCATCACTGA	ENST00000344514.1	-	1	345_372	c.346_373delTCAGTGATGGCCTTTGATCGGTACAAGG	c.(346-375)tcagtgatggcctttgatcggtacaaggccfs	p.SVMAFDRYKA116fs		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117M(1)|p.M118L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGATGATGGCCTTGTACCGATCAAAGGCCATCACTGACAGCAGTAGA	0.456																																					Melanoma(48;171 1190 15239 43886 49348)	Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(346-375)TCAGTGATGGCCTTTGATCGGTACAAGGCCfs		olfactory receptor, family 5, subfamily W,																																				SO:0001589	frameshift_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681686_55681713delCCTTGTACCGATCAAAGGCCATCACTGA	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.346_373delTCAGTGATGGCCTTTGATCGGTACAAGG	11.37:g.55681686_55681713delCCTTGTACCGATCAAAGGCCATCACTGA	ENSP00000342448:p.Ser116fs						p.S116fs	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	346_373	-			116_125			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000344514.1	37	c.346_373delTCAGTGATGGCCTTTGATCGGTACAAGG	CCDS31513.1																																																																																				0.456	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		17	205	NA	NA	NA	NA	NA	17	205	---	---	---	---
PPME1	51400	broad.mit.edu	37	11	73950234	73950240	+	Frame_Shift_Del	DEL	AGGAAGA	AGGAAGA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	AGGAAGA	AGGAAGA	-	-	AGGAAGA	AGGAAGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:73950234_73950240delAGGAAGA	ENST00000328257.8	+	9	1090_1096	c.767_773delAGGAAGA	c.(766-774)gaggaagaafs	p.EEE256fs	PPME1_ENST00000398427.4_Frame_Shift_Del_p.EEE256fs|P4HA3_ENST00000540363.1_Intron|PPME1_ENST00000543525.1_Frame_Shift_Del_p.EEE69fs			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	256	Poly-Glu.				negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GGAATCATAGAGGAAGAAGAAGAAGAT	0.377																																							uc001ouw.2		NA																	0					0						c.(766-774)GAGGAAGAAfs		protein phosphatase methylesterase 1																																				SO:0001589	frameshift_variant	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73950234_73950240delAGGAAGA		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.767_773delAGGAAGA	11.37:g.73950234_73950240delAGGAAGA	ENSP00000329867:p.Glu256fs					PPME1_uc009yty.2_Frame_Shift_Del_p.E126fs|PPME1_uc001oux.2_Frame_Shift_Del_p.E69fs	p.E256fs	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			9	866_872	+	Breast(11;3.29e-05)		256_258			Poly-Glu.		B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Frame_Shift_Del	DEL	ENST00000328257.8	37	c.767_773delAGGAAGA	CCDS44678.1																																																																																				0.377	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147		10	113	NA	NA	NA	NA	NA	10	113	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																							uc001oyh.3		NA																	0				skin(2)|stomach(1)|lung(1)	4						c.(547-552)GATGCT>GCT		p21-activated kinase 1 isoform 2			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_uc010rso.1_In_Frame_Del_p.D85del|PAK1_uc001oyg.3_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.1_5'UTR	p.D183del	NM_002576	NP_002567	Q13153	PAK1_HUMAN			6	1081_1083	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		8	393	NA	NA	NA	NA	NA	8	393	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12336938	12336951	+	Frame_Shift_Del	DEL	CCAGGAGTTTGACC	CCAGGAGTTTGACC	-	rs142395866		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	CCAGGAGTTTGACC	CCAGGAGTTTGACC	-	-	CCAGGAGTTTGACC	CCAGGAGTTTGACC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:12336938_12336951delCCAGGAGTTTGACC	ENST00000261349.4	-	5	1015_1028	c.939_952delGGTCAAACTCCTGG	c.(937-954)ggggtcaaactcctggagfs	p.VKLLE314fs	LRP6_ENST00000543091.1_Frame_Shift_Del_p.VKLLE314fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	314	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L317L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTTCCATTCTCCAGGAGTTTGACCCCAGTGGGGC	0.383																																							uc001rah.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(937-954)GGGGTCAAACTCCTGGAGfs		low density lipoprotein receptor-related protein																																				SO:0001589	frameshift_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12336938_12336951delCCAGGAGTTTGACC	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.939_952delGGTCAAACTCCTGG	12.37:g.12336938_12336951delCCAGGAGTTTGACC	ENSP00000261349:p.Val314fs					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Frame_Shift_Del_p.G313fs	p.G313fs	NM_002336	NP_002327	O75581	LRP6_HUMAN			5	1081_1094	-		Prostate(47;0.0865)	313_318			Extracellular (Potential).|EGF-like 1.		Q17RZ2	Frame_Shift_Del	DEL	ENST00000261349.4	37	c.939_952delGGTCAAACTCCTGG	CCDS8647.1																																																																																				0.383	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			9	188	NA	NA	NA	NA	NA	9	188	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr14:21884031delT	ENST00000557364.1	-	6	2015	c.1752delA	c.(1750-1752)aaafs	p.K584fs	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.K584fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398																																							uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(913-915)AAAfs		chromodomain helicase DNA binding protein 8							202.0	190.0	194.0					14																	21884031		1845	4090	5935	SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884031delT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1752delA	14.37:g.21884031delT	ENSP00000451601:p.Lys584fs					CHD8_uc001war.1_Frame_Shift_Del_p.K201fs	p.K305fs	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	6	1009	-	all_cancers(95;0.00121)		584					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.915delA	CCDS53885.1																																																																																				0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	582	NA	NA	NA	NA	NA	8	582	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25258540	25258557	+	In_Frame_Del	DEL	CTCCATGTTTTTCCTGCA	CTCCATGTTTTTCCTGCA	-	rs372123893		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	CTCCATGTTTTTCCTGCA	CTCCATGTTTTTCCTGCA	-	-	CTCCATGTTTTTCCTGCA	CTCCATGTTTTTCCTGCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr16:25258540_25258557delCTCCATGTTTTTCCTGCA	ENST00000328086.7	-	5	1763_1780	c.960_977delTGCAGGAAAAACATGGAG	c.(958-978)agtgcaggaaaaacatggaga>aga	p.SAGKTW320del		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	320					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTGCTGCTCTCTCCATGTTTTTCCTGCACTCCTTGCAG	0.459																																							uc002dod.3		NA																	0				ovary(3)|breast(1)	4						c.(958-978)AGTGCAGGAAAAACATGGAGA>AGA		zinc finger with KRAB and SCAN domains 2																																				SO:0001651	inframe_deletion	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258540_25258557delCTCCATGTTTTTCCTGCA	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.960_977delTGCAGGAAAAACATGGAG	16.37:g.25258540_25258557delCTCCATGTTTTTCCTGCA	ENSP00000331626:p.Ser320_Trp325del					ZKSCAN2_uc010vcl.1_In_Frame_Del_p.SAGKTW116del|ZKSCAN2_uc002doe.2_In_Frame_Del_p.SAGKTW320del	p.SAGKTW320del	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1367_1384	-			320_325					A1L3B4|Q6ZN77	In_Frame_Del	DEL	ENST00000328086.7	37	c.960_977delTGCAGGAAAAACATGGAG	CCDS32410.1																																																																																				0.459	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		28	264	NA	NA	NA	NA	NA	28	264	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																							uc002exs.2		NA																	0					0						c.(565-570)GAGGAA>GAA		nin one binding protein																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.189_190EE>E	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			6	583_585	-			189_190			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		9	376	NA	NA	NA	NA	NA	9	376	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29665755	29665756	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:29665755_29665756insA	ENST00000358273.4	+	46	7236_7237	c.6853_6854insA	c.(6853-6855)tacfs	p.Y2285fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.Y2264fs|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Frame_Shift_Ins_p.Y78fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2285					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.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(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)		ACCTGACACTTACAACAGTCAA	0.312			"""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		18	Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(3)	p.Y2285fs*5(4)|p.Y2285*(2)	soft_tissue(8)|central_nervous_system(6)|autonomic_ganglia(2)|lung(1)|haematopoietic_and_lymphoid_tissue(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	GRCh37	CI962317|CI972654	NF1	I		c.(6853-6855)TACfs		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.chr17:29665755_29665756insA		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.6854dupA	17.37:g.29665756_29665756dupA	ENSP00000351015:p.Tyr2285fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Ins_p.Y2264fs|NF1_uc010cso.2_Frame_Shift_Ins_p.Y473fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA	p.Y2285fs	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)	46	7186_7187	+		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)	2285					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.6853_6854insA	CCDS42292.1																																																																																				0.312	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		41	235	NA	NA	NA	NA	NA	41	235	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																							uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(2518-2523)GAGGAA>GAA		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del						p.840_841EE>E	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2548_2550	-		Ovarian(249;0.17)	840_841					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		7	241	NA	NA	NA	NA	NA	7	241	---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54978862	54978862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:54978862delT	ENST00000316881.4	-	4	1054	c.1005delA	c.(1003-1005)aaafs	p.K335fs	TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	335	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGTGGATGCCTTTTATCAGCT	0.547																																							uc002iut.2		NA																	0				lung(1)|breast(1)|skin(1)	3						c.(1003-1005)AAAfs		tripartite motif-containing 25							430.0	383.0	399.0					17																	54978862		2203	4300	6503	SO:0001589	frameshift_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54978862delT	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1005delA	17.37:g.54978862delT	ENSP00000323889:p.Lys335fs					TRIM25_uc010dcj.2_Frame_Shift_Del_p.K127fs	p.K335fs	NM_005082	NP_005073	Q14258	TRI25_HUMAN			4	1065	-	Breast(9;6.15e-08)		335			Interaction with influenza A virus NS1.			Frame_Shift_Del	DEL	ENST00000316881.4	37	c.1005delA	CCDS11591.1																																																																																				0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		8	1353	NA	NA	NA	NA	NA	8	1353	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																							uc002qfb.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1435-1437)CTCdel		leukocyte immunoglobulin-like receptor,																																				SO:0001651	inframe_deletion	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_In_Frame_Del_p.L479del|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_In_Frame_Del_p.L478del|LILRB2_uc010yet.1_In_Frame_Del_p.L363del	p.L479del	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1701_1703	-	Ovarian(34;0.19)		479			Helical; (Potential).		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1435_1437delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			9	343	NA	NA	NA	NA	NA	9	343	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74763924	74763924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:74763924delC	ENST00000264094.3	-	5	895	c.824delG	c.(823-825)ggcfs	p.G275fs	LOXL3_ENST00000409249.1_Frame_Shift_Del_p.G275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Del_p.G275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACTGCAGGGCCCCCCCCAGG	0.647																																							uc002smp.1		NA																	1	Insertion - Frameshift(1)		large_intestine(1)		0						c.(823-825)GGCfs		lysyl oxidase-like 3 precursor				25,21,4220		0,0,25,6,9,2093	73.0	80.0	77.0			1.4	0.5	2		79	27,26,8201		0,0,27,10,6,4084	no	codingComplex	LOXL3	NM_032603.2		0,0,52,16,15,6177	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6421,1.0783,0.7907			74763924	52,47,12421	2203	4300	6503	SO:0001589	frameshift_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763924delC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.824delG	2.37:g.74763924delC	ENSP00000264094:p.Gly275fs					LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Frame_Shift_Del_p.G275fs|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	p.G275fs	NM_032603	NP_115992	P58215	LOXL3_HUMAN			5	896	-			275			SRCR 2.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Frame_Shift_Del	DEL	ENST00000264094.3	37	c.824delG	CCDS1953.1																																																																																				0.647	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		9	378	NA	NA	NA	NA	NA	9	378	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663																																							uc002stw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(688-690)CCGfs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539829_95539830insG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690dupG	2.37:g.95539830_95539830dupG	ENSP00000295201:p.Tyr231fs					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.P230fs	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			3	782_783	+			230						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.689_690insG	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	295	NA	NA	NA	NA	NA	7	295	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)tttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398																																							uc010ywi.1		NA																	0				ovary(1)	1						c.(2887-2889)TTTfs		RANBP2-like and GRIP domain containing 3							33.0	53.0	47.0					2																	107041534		692	1582	2274	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041534delA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2889delT	2.37:g.107041534delA	ENSP00000386588:p.Phe963fs						p.F963fs	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			20	2946	-			963					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2889delT	CCDS46379.1																																																																																				0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	865	NA	NA	NA	NA	NA	8	865	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																							uc010ztl.1		NA																	0					0						c.(52-54)AAAfs		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001589	frameshift_variant	284802							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.K18fs							2	85_86	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.53_54insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	214	NA	NA	NA	NA	NA	10	214	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																							uc010gix.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(73-75)AAAfs		CCCTC-binding factor-like protein							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	737	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		9	1367	NA	NA	NA	NA	NA	9	1367	---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42551433	42551433	+	Intron	DEL	G	G	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr21:42551433delG	ENST00000330333.6	+	1	775				PLAC4_ENST00000440221.2_RNA|BACE2_ENST00000328735.6_Intron|PLAC4_ENST00000536486.1_RNA|PLAC4_ENST00000430327.2_RNA|BACE2_ENST00000347667.5_Intron|BACE2-IT1_ENST00000433378.1_RNA|PLAC4_ENST00000414699.1_RNA	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GACGGTGTCTGGGGTGAGTGA	0.607																																							uc002yyz.2		NA																	0					0						c.(121-123)CCCfs		placenta-specific 4							124.0	109.0	114.0					21																	42551433		2196	4275	6471	SO:0001627	intron_variant	191585							g.chr21:42551433delG	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10931G>-	21.37:g.42551433delG						BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron	p.P41fs	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN			1	5734	-		Prostate(19;2.29e-06)	41	P -> H (in Ref. 1; AAG23170).				A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Frame_Shift_Del	DEL	ENST00000330333.6	37	c.123delC	CCDS13668.1																																																																																				0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			17	64	NA	NA	NA	NA	NA	17	64	---	---	---	---
MBNL1	4154	broad.mit.edu	37	3	152132832	152132832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:152132832delA	ENST00000463374.1	+	2	788	c.277delA	c.(277-279)atgfs	p.M93fs	MBNL1_ENST00000355460.2_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000498502.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000485509.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000324196.5_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000485910.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000324210.5_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000493459.1_Frame_Shift_Del_p.M36fs|MBNL1_ENST00000545754.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000282486.6_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000357472.3_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000492948.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000282488.7_Frame_Shift_Del_p.M93fs	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	93					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCAGAAGAACATGGCCATGTT	0.463																																							uc003ezm.2		NA																	0				ovary(1)	1						c.(277-279)ATGfs		muscleblind-like 1 isoform c							146.0	131.0	136.0					3																	152132832		2203	4300	6503	SO:0001589	frameshift_variant	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152132832delA	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.277delA	3.37:g.152132832delA	ENSP00000418108:p.Met93fs					MBNL1_uc003ezh.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezi.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezj.2_Frame_Shift_Del_p.M36fs|MBNL1_uc003ezl.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezp.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezn.2_Frame_Shift_Del_p.M93fs|MBNL1_uc003ezo.2_Frame_Shift_Del_p.M93fs|MBNL1_uc010hvp.2_Frame_Shift_Del_p.M1fs	p.M93fs	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	1066	+			93					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Frame_Shift_Del	DEL	ENST00000463374.1	37	c.277delA	CCDS3165.1																																																																																				0.463	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		46	221	NA	NA	NA	NA	NA	46	221	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	TTGAG	TTGAG	-	-	TTGAG	TTGAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																							uc003ghp.1		NA																	1	Deletion - Frameshift(1)		liver(1)	ovary(2)|central_nervous_system(1)	3						c.(676-681)CTCAATfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.L226fs	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	706_710	-			226_227					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		7	365	NA	NA	NA	NA	NA	7	365	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811072	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-	rs58015886|rs370122702		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	TGCTGCTGC	TGCTGCTGC	-	-	TGCTGCTGC	TGCTGCTGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr4:140811064_140811072delTGCTGCTGC	ENST00000509479.2	-	2	2374_2382	c.1518_1526delGCAGCAGCA	c.(1516-1527)cagcagcagcaa>caa	p.506_509QQQQ>Q	MAML3_ENST00000327122.5_In_Frame_Del_p.350_353QQQQ>Q|MAML3_ENST00000398940.1_Splice_Site_p.A37del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgctgct	0.517																																							uc003ihz.1		NA																	0				ovary(1)	1						c.e3-1		mastermind-like 3																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811072delTGCTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1518_1526delGCAGCAGCA	4.37:g.140811073_140811081delTGCTGCTGC	ENSP00000421180:p.Gln506_Gln508del					MAML3_uc011chd.1_Intron	p.Q505_splice	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			3	2265	-	all_hematologic(180;0.162)								Splice_Site	DEL	ENST00000509479.2	37	c.1513_splice	CCDS54805.1																																																																																				0.517	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	238	NA	NA	NA	NA	NA	7	238	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NA																	0				ovary(1)	1						c.(1582-1587)AAACACfs		DNA polymerase sigma																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs					PAPD7_uc011cmn.1_Frame_Shift_Del_p.K518fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs	p.K528fs	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528_529					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		7	192	NA	NA	NA	NA	NA	7	192	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																							uc003kwq.2		NA																	1	Insertion - Frameshift(1)		ovary(1)		0						c.(1513-1515)CTTfs		solute carrier family 22 member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					uc003kwr.3_Intron	p.L505fs	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1679	+		all_cancers(142;0.0752)|Breast(839;0.198)	505			Helical; Name=12; (Potential).		O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		10	647	NA	NA	NA	NA	NA	10	647	---	---	---	---
VDAC1	7416	broad.mit.edu	37	5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)aatfs	p.N111fs	VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403																																					NSCLC(127;1776 1806 35523 41489 48154)	NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.1		NA																	0					0						c.(331-333)AATfs		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						51.0	56.0	54.0					5																	133316639		2203	4300	6503	SO:0001589	frameshift_variant	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133316639delT		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.332delA	5.37:g.133316639delT	ENSP00000265333:p.Asn111fs					VDAC1_uc003kyq.1_Frame_Shift_Del_p.N111fs|VDAC1_uc003kyr.1_Frame_Shift_Del_p.N111fs	p.N111fs	NM_003374	NP_003365	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	431	-			111			Beta stranded.		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Frame_Shift_Del	DEL	ENST00000265333.3	37	c.332delA	CCDS4168.1																																																																																				0.403	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			7	294	NA	NA	NA	NA	NA	7	294	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)tttfs	p.F668fs	HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527																																							uc003oxa.1		NA																	0				lung(3)|breast(1)	4						c.(2002-2004)TTTfs		heat shock 90kDa protein 1, beta							332.0	336.0	334.0					6																	44221052		2203	4300	6503	SO:0001589	frameshift_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221052delT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2002delT	6.37:g.44221052delT	ENSP00000360609:p.Phe668fs					HSP90AB1_uc011dvr.1_Frame_Shift_Del_p.F658fs|HSP90AB1_uc003oxb.1_Frame_Shift_Del_p.F668fs|HSP90AB1_uc011dvs.1_Frame_Shift_Del_p.F488fs|HSP90AB1_uc003oxc.1_Frame_Shift_Del_p.F306fs	p.F668fs	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2086	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		668					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.2002delT	CCDS4909.1																																																																																				0.527	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		9	1724	NA	NA	NA	NA	NA	9	1724	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					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)				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)			GTATAATCCAGAAAAAAAAATG	0.351																																							uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(4549-4551)GAAfs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	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.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_uc010jze.2_Frame_Shift_Ins_p.E1511fs	p.E1517fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4549_4550	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		8	237	NA	NA	NA	NA	NA	8	237	---	---	---	---
SCIN	85477	broad.mit.edu	37	7	12692267	12692269	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	TCA	TCA	-	-	TCA	TCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:12692267_12692269delTCA	ENST00000297029.5	+	16	2176_2178	c.2075_2077delTCA	c.(2074-2079)gtcatc>gtc	p.I694del	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000445618.2_In_Frame_Del_p.I447del|SCIN_ENST00000519209.1_In_Frame_Del_p.I447del	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	694	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACACCAATTGTCATCATAAAACA	0.404																																							uc003ssn.3		NA																	0				ovary(2)	2						c.(2074-2079)GTCATC>GTC		scinderin isoform 1																																				SO:0001651	inframe_deletion	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12692267_12692269delTCA	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.2075_2077delTCA	7.37:g.12692270_12692272delTCA	ENSP00000297029:p.Ile694del					SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_In_Frame_Del_p.I447del	p.I694del	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	16	2285_2287	+			694			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	In_Frame_Del	DEL	ENST00000297029.5	37	c.2075_2077delTCA	CCDS47545.1																																																																																				0.404	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		39	261	NA	NA	NA	NA	NA	39	261	---	---	---	---
NPM2	10361	broad.mit.edu	37	8	21892020	21892021	+	Splice_Site	INS	-	-	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:21892020_21892021insA	ENST00000397940.1	+	7	1546_1547		c.e7-1		NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000289820.6_Splice_Site|NPM2_ENST00000381530.5_Splice_Site|NPM2_ENST00000521157.1_Splice_Site|snoU13_ENST00000459495.1_RNA			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2						chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TTGGTTCCCAGAAAAAAAAGCT	0.406																																							uc003xab.2		NA																	0					0						c.e7-1		nucleoplasmin 2																																				SO:0001630	splice_region_variant	10361				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding	g.chr8:21892020_21892021insA	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.532-1->A	8.37:g.21892028_21892028dupA						NPM2_uc003xac.2_Splice_Site_p.K178_splice|NPM2_uc003xad.2_Splice_Site_p.K178_splice|NPM2_uc003xae.2_Splice_Site_p.K178_splice|NPM2_uc003xaf.2_Splice_Site_p.E122_splice	p.K178_splice	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	7	1190	+								B3KSU0|D3DSQ8|Q6NVH6	Splice_Site	INS	ENST00000397940.1	37	c.532_splice	CCDS6018.1																																																																																				0.406	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795	Intron	7	727	NA	NA	NA	NA	NA	7	727	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	CAG	CAG	-	-	CAG	CAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																							uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(661-663)CTGdel		astrotactin 2 isoform c																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_uc004bjr.1_In_Frame_Del_p.L221del|ASTN2_uc004bjt.1_In_Frame_Del_p.L221del	p.L221del	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	762_764	-			221			Helical; (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		10	199	NA	NA	NA	NA	NA	10	199	---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337469	13337469	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chrX:13337469delT	ENST00000380622.2	-	1	1049	c.585delA	c.(583-585)aaafs	p.K195fs	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	195					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTTTACTAATTTTTTTCCAT	0.383																																							uc010ned.2		NA																	0				lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(583-585)AAAfs		ataxin 3-like							114.0	106.0	109.0					X																	13337469		1568	3582	5150	SO:0001589	frameshift_variant	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337469delT		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.585delA	X.37:g.13337469delT	ENSP00000369996:p.Lys195fs						p.K195fs	NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN			1	1050	-			195					B2RNY8	Frame_Shift_Del	DEL	ENST00000380622.2	37	c.585delA	CCDS48080.1																																																																																				0.383	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		9	468	NA	NA	NA	NA	NA	9	468	---	---	---	---
