#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_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
HPS6	79803	broad.mit.edu	37	10	103826228	103826228	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:103826228G>C	ENST00000299238.5	+	1	1082	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	333					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTCCACATTGGAACTGCTGGA	0.627									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(997-999)Gaa>Caa		Hermansky-Pudlak syndrome 6							66.0	67.0	66.0					10																	103826228		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826228G>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.997G>C	10.37:g.103826228G>C	ENSP00000299238:p.Glu333Gln						p.E333Q	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1082	+		Colorectal(252;0.122)	333					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.997G>C	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282094	0.40394	.	.	ENSG00000166189	ENST00000299238	T	0.77620	-1.11	5.17	5.17	0.71159	.	0.493167	0.22413	N	0.060388	T	0.74344	0.3704	L	0.57536	1.79	0.27968	N	0.936514	P	0.41265	0.744	B	0.44044	0.439	T	0.67677	-0.5609	10	0.27785	T	0.31	-8.7857	8.5671	0.33547	0.0:0.1334:0.5965:0.2702	.	333	Q86YV9	HPS6_HUMAN	Q	333	ENSP00000299238:E333Q	ENSP00000299238:E333Q	E	+	1	0	HPS6	103816218	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.837000	0.39201	2.681000	0.91329	0.561000	0.74099	GAA		0.627	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		16	86	0	0	0	1	0	16	86				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452471	100452471	+	Missense_Mutation	SNP	T	T	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr12:100452471T>A	ENST00000279907.7	-	14	2796	c.2584A>T	c.(2584-2586)Att>Ttt	p.I862F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I512F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	862										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTAAGTAAAATTCCAATACAA	0.428																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2584-2586)Att>Ttt		UHRF1 binding protein 1-like							57.0	57.0	57.0					12																	100452471		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100452471T>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2584A>T	12.37:g.100452471T>A	ENSP00000279907:p.Ile862Phe					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I512F	p.I862F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2796	-			862					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2584A>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	2.593	-0.294835	0.05568	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.20881	2.04;2.04	6.02	0.693	0.18056	.	0.199963	0.48286	N	0.000199	T	0.11623	0.0283	L	0.33485	1.01	0.53688	D	0.999977	B	0.06786	0.001	B	0.08055	0.003	T	0.16719	-1.0393	10	0.40728	T	0.16	-5.5418	1.7567	0.02983	0.3283:0.1074:0.1049:0.4595	.	862	A0JNW5	UH1BL_HUMAN	F	862;512	ENSP00000279907:I862F;ENSP00000444824:I512F	ENSP00000279907:I862F	I	-	1	0	UHRF1BP1L	98976602	0.038000	0.19896	0.920000	0.36463	0.423000	0.31445	0.018000	0.13422	-0.113000	0.11958	-0.451000	0.05528	ATT		0.428	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		14	83	0	0	0	1	0	14	83				
SSTR4	6754	broad.mit.edu	37	20	23016391	23016391	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:23016391G>A	ENST00000255008.3	+	1	335	c.271G>A	c.(271-273)Gta>Ata	p.V91I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	91					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCTGGCCGTAGCCGACGA	0.657																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(271-273)Gta>Ata		somatostatin receptor 4							114.0	121.0	119.0					20																	23016391		2202	4300	6502	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016391G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.271G>A	20.37:g.23016391G>A	ENSP00000255008:p.Val91Ile					RP4-753D10.3_ENST00000440921.1_RNA	p.V91I	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	335	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		91					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.271G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.522868	0.00967	.	.	ENSG00000132671	ENST00000255008	T	0.19532	2.14	3.32	-1.99	0.07457	GPCR, rhodopsin-like superfamily (1);	0.231983	0.27159	N	0.020642	T	0.06554	0.0168	N	0.05306	-0.075	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.40232	-0.9574	10	0.02654	T	1	.	8.265	0.31808	0.759:0.0:0.241:0.0	.	91	P31391	SSR4_HUMAN	I	91	ENSP00000255008:V91I	ENSP00000255008:V91I	V	+	1	0	SSTR4	22964391	0.580000	0.26733	0.037000	0.18230	0.599000	0.36880	0.339000	0.19875	-0.229000	0.09854	-0.367000	0.07326	GTA		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			11	280	0	0	0	1	0	11	280				
HPS6	79803	broad.mit.edu	37	10	103826135	103826135	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:103826135G>C	ENST00000299238.5	+	1	989	c.904G>C	c.(904-906)Ggc>Cgc	p.G302R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	302					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCGGGCTGTGGGCACCCTGCA	0.647									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(904-906)Ggc>Cgc		Hermansky-Pudlak syndrome 6							46.0	52.0	50.0					10																	103826135		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826135G>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.904G>C	10.37:g.103826135G>C	ENSP00000299238:p.Gly302Arg						p.G302R	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	989	+		Colorectal(252;0.122)	302					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.904G>C	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957018	0.34565	.	.	ENSG00000166189	ENST00000299238	T	0.77358	-1.09	5.17	5.17	0.71159	.	0.267993	0.39020	N	0.001486	D	0.85383	0.5684	L	0.57536	1.79	0.33115	D	0.541008	D	0.76494	0.999	D	0.73380	0.98	D	0.86765	0.1969	10	0.36615	T	0.2	-11.0148	17.0188	0.86428	0.0:0.0:1.0:0.0	.	302	Q86YV9	HPS6_HUMAN	R	302	ENSP00000299238:G302R	ENSP00000299238:G302R	G	+	1	0	HPS6	103816125	0.991000	0.36638	0.496000	0.27539	0.193000	0.23685	3.592000	0.53993	2.681000	0.91329	0.561000	0.74099	GGC		0.647	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		17	63	0	0	0	1	0	17	63				
SRGAP2	23380	broad.mit.edu	37	1	206592730	206592730	+	Silent	SNP	C	C	A	rs577398952		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:206592730C>A	ENST00000414007.1	+	8	1027	c.1027C>A	c.(1027-1029)Cgg>Agg	p.R343R	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	483	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AACAGGTCAGCGGACAGATTG	0.512																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(1027-1029)Cgg>Agg		SLIT-ROBO Rho GTPase activating protein 2							115.0	120.0	119.0					1																	206592730		2062	4229	6291	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206592730C>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1027C>A	1.37:g.206592730C>A						SRGAP2_ENST00000419187.2_5'UTR	p.R343R			O75044	FNBP2_HUMAN			8	1027	+	Breast(84;0.137)		483						Silent	SNP	ENST00000414007.1	37	c.1027C>A		.	.	.	.	.	.	.	.	.	.	C	9.928	1.214068	0.22289	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.58	3.57	0.40892	.	.	.	.	.	T	0.62563	0.2438	.	.	.	0.30907	N	0.729093	.	.	.	.	.	.	T	0.70241	-0.4926	3	.	.	.	.	13.6218	0.62140	0.3878:0.6122:0.0:0.0	.	.	.	.	E	396	.	.	A	+	2	0	SRGAP2	204659353	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.980000	0.29513	1.343000	0.45638	0.511000	0.50034	GCG		0.512	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		5	46	1	0	1.23904e-05	1	1.30204e-05	5	46				
ALDH1A3	220	broad.mit.edu	37	15	101434212	101434212	+	Missense_Mutation	SNP	T	T	G			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr15:101434212T>G	ENST00000329841.5	+	6	1123	c.591T>G	c.(589-591)tgT>tgG	p.C197W	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	197					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CCCTCTGCTGTGGGAACACCA	0.567																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(589-591)tgT>tgG		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						143.0	131.0	135.0					15																	101434212		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101434212T>G	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.591T>G	15.37:g.101434212T>G	ENSP00000332256:p.Cys197Trp					RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	p.C197W	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		6	1123	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		197					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.591T>G	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177840	0.78564	.	.	ENSG00000184254	ENST00000329841	T	0.16324	2.35	5.69	-5.85	0.02311	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51826	-0.8656	10	0.87932	D	0	.	16.045	0.80714	0.0:0.5457:0.0:0.4543	.	197	P47895	AL1A3_HUMAN	W	197	ENSP00000332256:C197W	ENSP00000332256:C197W	C	+	3	2	ALDH1A3	99251735	0.893000	0.30496	0.720000	0.30636	0.976000	0.68499	-0.073000	0.11468	-1.595000	0.01613	0.533000	0.62120	TGT		0.567	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			40	99	0	0	0	1	0	40	99				
COL4A3	1285	broad.mit.edu	37	2	228131136	228131136	+	Missense_Mutation	SNP	A	A	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:228131136A>T	ENST00000396578.3	+	22	1481	c.1319A>T	c.(1318-1320)gAc>gTc	p.D440V	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	440	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTATAGGTGACATCGTTTTT	0.388																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1318-1320)gAc>gTc		collagen, type IV, alpha 3 (Goodpasture antigen)							72.0	67.0	69.0					2																	228131136		1828	4082	5910	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228131136A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1319A>T	2.37:g.228131136A>T	ENSP00000379823:p.Asp440Val					AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	p.D440V	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	22	1481	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	440			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1319A>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	3.110	-0.182909	0.06340	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93426	-3.22	5.69	3.35	0.38373	.	0.946141	0.08847	N	0.885052	D	0.85999	0.5828	N	0.12611	0.24	0.47778	D	0.999515	B;B;B;B	0.30634	0.244;0.244;0.244;0.288	B;B;B;B	0.34038	0.109;0.109;0.109;0.174	T	0.74515	-0.3640	10	0.30078	T	0.28	.	6.8184	0.23843	0.8083:0.0:0.1917:0.0	.	440;440;440;440	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	V	440	ENSP00000379823:D440V	ENSP00000323334:D440V	D	+	2	0	COL4A3	227839380	0.012000	0.17670	0.434000	0.26772	0.042000	0.13812	0.936000	0.28938	0.448000	0.26722	-0.264000	0.10439	GAC		0.388	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		4	39	0	0	0	1	0	4	39				
TEP1	7011	broad.mit.edu	37	14	20852060	20852060	+	Silent	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr14:20852060G>A	ENST00000262715.5	-	25	3592	c.3552C>T	c.(3550-3552)gcC>gcT	p.A1184A	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.A1076A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1184	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGCCTGCAGGGCTGACACAA	0.557																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3550-3552)gcC>gcT		telomerase-associated protein 1							34.0	39.0	37.0					14																	20852060		2202	4300	6502	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852060G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3552C>T	14.37:g.20852060G>A						TEP1_ENST00000556935.1_Silent_p.A1076A	p.A1184A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	25	3592	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1184			NACHT.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.3552C>T	CCDS9548.1																																																																																				0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	14	0	0	0	1	0	5	14				
AGRN	375790	broad.mit.edu	37	1	977080	977080	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:977080G>A	ENST00000379370.2	+	6	1225	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	392					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCAGGGTCGAGGTGAGCGG	0.731																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1174-1176)cGa>cAa		agrin							8.0	12.0	11.0					1																	977080		2058	4123	6181	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:977080G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1175G>A	1.37:g.977080G>A	ENSP00000368678:p.Arg392Gln						p.R392Q	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	6	1225	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	392					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.1175G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	2.400	-0.337830	0.05278	.	.	ENSG00000188157	ENST00000379370	T	0.74737	-0.87	4.35	-0.482	0.12078	.	0.788324	0.10969	N	0.614081	T	0.45135	0.1327	N	0.11560	0.145	0.27849	N	0.940811	B	0.33345	0.409	B	0.20767	0.031	T	0.33007	-0.9885	10	0.09843	T	0.71	0.6407	8.1629	0.31209	0.7459:0.0:0.2541:0.0	.	392	O00468	AGRIN_HUMAN	Q	392	ENSP00000368678:R392Q	ENSP00000368678:R392Q	R	+	2	0	AGRN	966943	0.131000	0.22433	0.990000	0.47175	0.090000	0.18270	0.461000	0.21940	0.048000	0.15891	-0.480000	0.04831	CGA		0.731	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		3	6	0	0	0	1	0	3	6				
CACNG7	59284	broad.mit.edu	37	19	54416165	54416165	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:54416165C>T	ENST00000391767.1	+	2	292	c.80C>T	c.(79-81)gCg>gTg	p.A27V	CACNG7_ENST00000222212.2_Missense_Mutation_p.A27V|CACNG7_ENST00000391766.1_Missense_Mutation_p.A27V|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	27					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GTAGGCATCGCGGTCAGCACT	0.647																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(79-81)gCg>gTg		calcium channel, voltage-dependent, gamma subunit 7							71.0	55.0	61.0					19																	54416165		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416165C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.80C>T	19.37:g.54416165C>T	ENSP00000375647:p.Ala27Val					CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.A27V|CACNG7_ENST00000391766.1_Missense_Mutation_p.A27V	p.A27V			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	2	292	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		27					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.80C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971259	0.92919	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.91407	-2.84;-2.84;-2.84	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.95780	0.8816	10	0.87932	D	0	-27.937	14.64	0.68717	0.0:1.0:0.0:0.0	.	27	P62955	CCG7_HUMAN	V	27	ENSP00000375647:A27V;ENSP00000222212:A27V;ENSP00000375646:A27V	ENSP00000222212:A27V	A	+	2	0	CACNG7	59107977	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.173000	0.77612	2.411000	0.81874	0.561000	0.74099	GCG		0.647	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			15	44	0	0	0	1	0	15	44				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	43	0	0	0	1	0	4	43				
NFKBIA	4792	broad.mit.edu	37	14	35873703	35873703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr14:35873703G>A	ENST00000216797.5	-	1	249	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	NFKBIA_ENST00000557389.1_5'Flank|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.Q50*|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	50					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CGGATCTCCTGCAGCTCCTTG	0.682																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(148-150)Cag>Tag		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							19.0	19.0	19.0					14																	35873703		2202	4296	6498	SO:0001587	stop_gained	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35873703G>A		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.148C>T	14.37:g.35873703G>A	ENSP00000216797:p.Gln50*					NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.Q50*	p.Q50*	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	1	249	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		50					B2R8L6	Nonsense_Mutation	SNP	ENST00000216797.5	37	c.148C>T	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563442	0.86335	.	.	ENSG00000100906	ENST00000216797;ENST00000557140	.	.	.	3.87	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-11.65	6.1807	0.20470	0.0:0.2099:0.3156:0.4745	.	.	.	.	X	50	.	ENSP00000216797:Q50X	Q	-	1	0	NFKBIA	34943454	0.903000	0.30736	0.991000	0.47740	0.843000	0.47879	0.690000	0.25451	0.713000	0.32060	0.313000	0.20887	CAG		0.682	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		4	13	0	0	0	1	0	4	13				
ASPH	444	broad.mit.edu	37	8	62559377	62559377	+	Missense_Mutation	SNP	T	T	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:62559377T>A	ENST00000379454.4	-	6	738	c.551A>T	c.(550-552)gAt>gTt	p.D184V	ASPH_ENST00000522835.1_Intron|ASPH_ENST00000522919.1_5'Flank|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000356457.5_Missense_Mutation_p.D184V|ASPH_ENST00000517847.2_Missense_Mutation_p.D170V|ASPH_ENST00000445642.3_Missense_Mutation_p.D170V|ASPH_ENST00000517903.1_Missense_Mutation_p.D170V|ASPH_ENST00000541428.1_Missense_Mutation_p.D155V	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	184	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AAGAAACTCATCATCCTCTTG	0.403																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(463-465)gAt>gTt		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						399.0	401.0	400.0					8																	62559377		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62559377T>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.551A>T	8.37:g.62559377T>A	ENSP00000368767:p.Asp184Val					ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Missense_Mutation_p.D170V|ASPH_ENST00000379454.4_Missense_Mutation_p.D184V|ASPH_ENST00000517847.2_Missense_Mutation_p.D170V|ASPH_ENST00000517903.1_Missense_Mutation_p.D170V|ASPH_ENST00000356457.5_Missense_Mutation_p.D184V|ASPH_ENST00000522835.1_Intron	p.D155V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			6	624	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	184			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.464A>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574480	0.28092	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000517903;ENST00000445642;ENST00000517847	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.47	3.29	0.37713	Aspartyl beta-hydroxylase/Triadin domain (1);	0.733390	0.12396	N	0.472562	T	0.48572	0.1507	L	0.40543	1.245	0.42160	D	0.991596	B;B;B;B;B;B;B;B	0.32781	0.379;0.083;0.143;0.076;0.017;0.358;0.143;0.384	B;B;B;B;B;B;B;B	0.40901	0.343;0.112;0.112;0.076;0.009;0.158;0.112;0.124	T	0.40590	-0.9555	10	0.49607	T	0.09	-0.195	8.3808	0.32470	0.0:0.0:0.1992:0.8008	.	184;170;170;155;184;184;170;184	B8Y0L3;B7ZM95;B7ZM96;F5H667;F8W7A9;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;ASPH_HUMAN	V	184;155;184;184;199;170;170;170	ENSP00000437864:D155V;ENSP00000368767:D184V;ENSP00000348841:D184V;ENSP00000427823:D199V;ENSP00000430245:D170V;ENSP00000394013:D170V;ENSP00000429954:D170V	ENSP00000348841:D184V	D	-	2	0	ASPH	62721931	0.005000	0.15991	0.187000	0.23214	0.004000	0.04260	0.394000	0.20834	0.670000	0.31165	-0.291000	0.09656	GAT		0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		6	477	0	0	0	1	0	6	477				
LPHN1	22859	broad.mit.edu	37	19	14268118	14268118	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:14268118T>C	ENST00000340736.6	-	15	3002	c.2705A>G	c.(2704-2706)aAc>aGc	p.N902S	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N897S|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	902					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGAAGAGGTTGATGCACAG	0.617																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2704-2706)aAc>aGc		latrophilin 1							172.0	156.0	162.0					19																	14268118		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14268118T>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2705A>G	19.37:g.14268118T>C	ENSP00000340688:p.Asn902Ser					CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N897S	p.N902S	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			15	3002	-			902					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2705A>G	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	4.574	0.106639	0.08780	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.34275	1.37;1.37	4.62	4.62	0.57501	GPCR, family 2-like (1);	0.053087	0.64402	D	0.000001	T	0.13927	0.0337	N	0.02391	-0.57	0.44092	D	0.996853	B;B	0.28850	0.225;0.071	B;B	0.33750	0.169;0.047	T	0.13764	-1.0497	10	0.09843	T	0.71	.	7.1653	0.25687	0.0:0.102:0.0:0.898	.	897;902	O94910-2;O94910	.;LPHN1_HUMAN	S	902;897	ENSP00000340688:N902S;ENSP00000355328:N897S	ENSP00000340688:N902S	N	-	2	0	LPHN1	14129118	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.378000	0.34328	1.837000	0.53436	0.402000	0.26972	AAC		0.617	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		16	173	0	0	0	1	0	16	173				
C11orf63	79864	broad.mit.edu	37	11	122817235	122817235	+	Missense_Mutation	SNP	C	C	T	rs143699753	byFrequency	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:122817235C>T	ENST00000531316.1	+	5	1756	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	C11orf63_ENST00000227349.2_Missense_Mutation_p.T555M			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	555					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GACAGCCAGACGGTTAGAGCT	0.428													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16673	0.0		0.0	False		,,,				2504	0.0					ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1663-1665)aCg>aTg		chromosome 11 open reading frame 63		C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	60.0	61.0	60.0		1664	2.8	0.0	11	dbSNP_134	60	0,8596		0,0,4298	yes	missense	C11orf63	NM_024806.2	81	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign	555/779	122817235	1,12999	2202	4298	6500	SO:0001583	missense	79864							g.chr11:122817235C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1664C>T	11.37:g.122817235C>T	ENSP00000431669:p.Thr555Met					C11orf63_ENST00000531316.1_Missense_Mutation_p.T555M	p.T555M	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	6	1961	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	555					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1664C>T	CCDS8438.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.36	1.327850	0.24080	2.27E-4	0.0	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.22539	1.95;1.95	5.66	2.75	0.32379	.	0.525337	0.18992	N	0.125580	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.20505	-1.0273	10	0.66056	D	0.02	-3.5728	4.9993	0.14257	0.1531:0.6228:0.0:0.2241	.	555	Q6NUN7	CK063_HUMAN	M	555	ENSP00000227349:T555M;ENSP00000431669:T555M	ENSP00000227349:T555M	T	+	2	0	C11orf63	122322445	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	0.311000	0.19380	0.729000	0.32403	-0.119000	0.15052	ACG		0.428	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		22	66	0	0	0	1	0	22	66				
INPP5A	3632	broad.mit.edu	37	10	134594354	134594354	+	Splice_Site	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:134594354C>T	ENST00000368594.3	+	14	1368	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	364					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCTTTCCAGTCGGAGAGCGAG	0.597																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e14-1		inositol polyphosphate-5-phosphatase, 40kDa							134.0	138.0	136.0					10																	134594354		2015	4158	6173	SO:0001630	splice_region_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134594354C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1090-1C>T	10.37:g.134594354C>T							p.S364_splice	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	14	1368	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	364					D3DXI3|Q14640|Q5JSF1	Splice_Site	SNP	ENST00000368594.3	37	c.1089_splice	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627879	0.46944	.	.	ENSG00000068383	ENST00000368594;ENST00000416326;ENST00000432898;ENST00000445580	T	0.40476	1.03	4.93	4.93	0.64822	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.464677	0.22219	N	0.062984	T	0.33323	0.0859	L	0.43152	1.355	0.80722	D	1	B;B	0.32829	0.045;0.386	B;B	0.29440	0.016;0.102	T	0.10520	-1.0626	10	0.32370	T	0.25	-16.0226	11.9855	0.53145	0.0:0.9204:0.0:0.0796	.	307;364	F5GWM1;Q14642	.;I5P1_HUMAN	L	364;307;281;46	ENSP00000357583:S364L	ENSP00000357583:S364L	S	+	2	0	INPP5A	134444344	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.250000	0.65432	2.465000	0.83290	0.655000	0.94253	TCG		0.597	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	Missense_Mutation	18	149	0	0	0	1	0	18	149				
WDR1	9948	broad.mit.edu	37	4	10083067	10083067	+	Splice_Site	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr4:10083067C>T	ENST00000499869.2	-	11	1391	c.1198G>A	c.(1198-1200)Gga>Aga	p.G400R	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Splice_Site_p.G260R|WDR1_ENST00000382452.2_Splice_Site_p.G400R|WDR1_ENST00000382451.2_Splice_Site_p.G260R|MIR3138_ENST00000585238.1_RNA			O75083	WDR1_HUMAN	WD repeat domain 1	400					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTCCTTGTCCGCTGTTAGAG	0.512																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.e11-1		WD repeat domain 1							76.0	80.0	79.0					4																	10083067		2034	4189	6223	SO:0001630	splice_region_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10083067C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1197-1G>A	4.37:g.10083067C>T						WDR1_ENST00000499869.2_Splice_Site_p.G400_splice|WDR1_ENST00000382451.2_Splice_Site_p.G260_splice|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Splice_Site_p.G260_splice	p.G400_splice	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	11	1480	-			400					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Splice_Site	SNP	ENST00000499869.2	37	c.1196_splice	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816977	0.32145	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.50548	0.8;0.8;0.74;0.74	5.19	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.113215	0.64402	D	0.000016	T	0.41465	0.1160	L	0.42245	1.32	0.41683	D	0.989306	D;P	0.59357	0.985;0.918	P;B	0.45946	0.498;0.177	T	0.33137	-0.9880	10	0.46703	T	0.11	-12.4856	8.0376	0.30502	0.1577:0.7617:0.0:0.0806	.	260;400	O75083-3;O75083	.;WDR1_HUMAN	R	400;400;260;260;235	ENSP00000427687:G400R;ENSP00000371890:G400R;ENSP00000371889:G260R;ENSP00000426725:G260R	ENSP00000371889:G260R	G	-	1	0	WDR1	9692165	0.982000	0.34865	0.991000	0.47740	0.355000	0.29361	2.806000	0.47947	1.328000	0.45358	0.467000	0.42956	GGA		0.512	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1		Missense_Mutation	7	66	0	0	0	1	0	7	66				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		5	257	0	0	0	1	0	5	257				
POFUT1	23509	broad.mit.edu	37	20	30797941	30797941	+	Silent	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:30797941C>T	ENST00000375749.3	+	2	254	c.192C>T	c.(190-192)acC>acT	p.T64T	POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000375730.3_Silent_p.T64T|PLAGL2_ENST00000246229.4_5'Flank|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	64					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAAACCGTACCTTGGCTGTCC	0.547																																						ENST00000375749.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6						c.(190-192)acC>acT		protein O-fucosyltransferase 1							256.0	206.0	223.0					20																	30797941		2203	4300	6503	SO:0001819	synonymous_variant	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30797941C>T	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.192C>T	20.37:g.30797941C>T						POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000375730.3_Silent_p.T64T	p.T64T	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	254	+			64					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Silent	SNP	ENST00000375749.3	37	c.192C>T	CCDS13198.1																																																																																				0.547	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		84	115	0	0	0	1	0	84	115				
SHPRH	257218	broad.mit.edu	37	6	146262872	146262872	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr6:146262872G>A	ENST00000367505.2	-	10	2641	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	SHPRH_ENST00000275233.7_Missense_Mutation_p.R793C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793C|SHPRH_ENST00000367503.3_Missense_Mutation_p.R793C			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CGTAGGCGACGCCCATCCTCA	0.468																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(2377-2379)Cgt>Tgt		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							73.0	78.0	77.0					6																	146262872		2014	4185	6199	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146262872G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2377C>T	6.37:g.146262872G>A	ENSP00000356475:p.Arg793Cys					SHPRH_ENST00000367505.2_Missense_Mutation_p.R793C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R793C	p.R793C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2775	-		Ovarian(120;0.0365)	793			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2377C>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644728	0.87859	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.76968	-1.06;-1.05;-1.04;-1.06	5.69	5.69	0.88448	DEAD-like helicase (1);SNF2-related (1);	0.138411	0.49916	D	0.000129	D	0.89343	0.6688	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.91635	0.999;0.904;0.845	D	0.91260	0.5036	10	0.87932	D	0	-9.9321	14.6297	0.68647	0.0:0.0:0.8544:0.1456	.	682;793;793	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	C	793	ENSP00000356475:R793C;ENSP00000356473:R793C;ENSP00000412797:R793C;ENSP00000275233:R793C	ENSP00000275233:R793C	R	-	1	0	SHPRH	146304565	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.799000	0.85936	2.684000	0.91462	0.650000	0.86243	CGT		0.468	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		10	82	0	0	0	1	0	10	82				
MTSS1	9788	broad.mit.edu	37	8	125575169	125575169	+	Missense_Mutation	SNP	A	A	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:125575169A>C	ENST00000518547.1	-	10	1362	c.889T>G	c.(889-891)Tca>Gca	p.S297A	MTSS1_ENST00000524090.1_Missense_Mutation_p.S187A|MTSS1_ENST00000431961.2_Missense_Mutation_p.S97A|MTSS1_ENST00000395508.2_Missense_Mutation_p.S31A|MTSS1_ENST00000354184.4_Missense_Mutation_p.S97A|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000325064.5_Missense_Mutation_p.S301A|MTSS1_ENST00000378017.3_Missense_Mutation_p.S297A|MTSS1_ENST00000523587.1_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	297	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGTAATGTGAGCTGGGGGAA	0.622																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(889-891)Tca>Gca		metastasis suppressor 1							49.0	42.0	44.0					8																	125575169		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125575169A>C	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.889T>G	8.37:g.125575169A>C	ENSP00000429064:p.Ser297Ala					MTSS1_ENST00000325064.5_Missense_Mutation_p.S301A|MTSS1_ENST00000431961.2_Missense_Mutation_p.S97A|MTSS1_ENST00000354184.4_Missense_Mutation_p.S97A|MTSS1_ENST00000524090.1_Missense_Mutation_p.S187A|MTSS1_ENST00000378017.3_Missense_Mutation_p.S297A|MTSS1_ENST00000395508.2_Missense_Mutation_p.S31A|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron	p.S297A	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	1362	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		297			Ser-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.889T>G	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.589652|4.589652	0.86851|0.86851	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168;ENST00000523179|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	.|T;T;T;T;T;T;T;T	.|0.47869	.|1.4;1.44;1.43;1.31;1.44;1.43;1.4;0.83	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61800|0.61800	0.2376|0.2376	L|L	0.52759|0.52759	1.655|1.655	0.54753|0.54753	D|D	0.999981|0.999981	.|P;P;D;P;D;B	.|0.67145	.|0.603;0.816;0.994;0.85;0.996;0.27	.|B;B;D;B;D;B	.|0.76071	.|0.152;0.152;0.97;0.345;0.987;0.086	T|T	0.56105|0.56105	-0.8034|-0.8034	5|10	.|0.22109	.|T	.|0.4	-14.0437|-14.0437	16.0863|16.0863	0.81056|0.81056	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|187;31;297;297;297;97	.|E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.|.;.;.;MTSS1_HUMAN;.;.	R|A	44;144|297;297;97;31;301;97;187;97	.|ENSP00000367256:S297A;ENSP00000429064:S297A;ENSP00000346119:S97A;ENSP00000378884:S31A;ENSP00000322804:S301A;ENSP00000393606:S97A;ENSP00000428319:S187A;ENSP00000428145:S97A	.|ENSP00000322804:S301A	L|S	-|-	2|1	0|0	MTSS1|MTSS1	125644350|125644350	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.925000|0.925000	0.55904|0.55904	9.102000|9.102000	0.94226|0.94226	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	CTC|TCA		0.622	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		11	26	0	0	0	1	0	11	26				
BIRC7	79444	broad.mit.edu	37	20	61867696	61867696	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:61867696G>A	ENST00000217169.3	+	1	462	c.248G>A	c.(247-249)gGc>gAc	p.G83D	BIRC7_ENST00000342412.6_Missense_Mutation_p.G83D|BIRC7_ENST00000395306.1_5'Flank|MIR3196_ENST00000579556.1_RNA	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	83					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCCTTCCCCGGCATGGGCTCT	0.677																																						ENST00000217169.3																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)	12						c.(247-249)gGc>gAc		baculoviral IAP repeat containing 7							33.0	36.0	35.0					20																	61867696		2202	4298	6500	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61867696G>A	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.248G>A	20.37:g.61867696G>A	ENSP00000217169:p.Gly83Asp					BIRC7_ENST00000342412.6_Missense_Mutation_p.G83D	p.G83D	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN			1	462	+	all_cancers(38;2.72e-09)		83					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.248G>A	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	3.057	-0.194140	0.06259	.	.	ENSG00000101197	ENST00000342412;ENST00000217169	T;T	0.03553	3.89;3.89	4.65	-0.308	0.12773	Baculoviral inhibition of apoptosis protein repeat (1);	0.807473	0.10459	N	0.672146	T	0.03959	0.0111	L	0.46157	1.445	0.09310	N	0.999999	B;B;B	0.32425	0.371;0.034;0.009	B;B;B	0.39299	0.296;0.182;0.094	T	0.45862	-0.9232	10	0.10636	T	0.68	.	3.8374	0.08900	0.5308:0.2034:0.2658:0.0	.	83;83;83	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	D	83	ENSP00000345213:G83D;ENSP00000217169:G83D	ENSP00000217169:G83D	G	+	2	0	BIRC7	61338141	0.953000	0.32496	0.002000	0.10522	0.547000	0.35210	1.864000	0.39469	0.128000	0.18479	0.655000	0.94253	GGC		0.677	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		4	108	0	0	0	1	0	4	108				
OR10K1	391109	broad.mit.edu	37	1	158435707	158435707	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:158435707G>A	ENST00000289451.2	+	1	436	c.356G>A	c.(355-357)gGc>gAc	p.G119D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GCAGCCATGGGCTATGATCGC	0.537																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(355-357)gGc>gAc		olfactory receptor, family 10, subfamily K, member 1							180.0	176.0	178.0					1																	158435707		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435707G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.356G>A	1.37:g.158435707G>A	ENSP00000289451:p.Gly119Asp						p.G119D	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	436	+	all_hematologic(112;0.0378)		119					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.356G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.874937	0.51695	.	.	ENSG00000173285	ENST00000289451	T	0.37915	1.17	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000511	T	0.49541	0.1563	M	0.76002	2.32	0.37472	D	0.915655	D	0.89917	1.0	D	0.97110	1.0	T	0.56056	-0.8042	10	0.87932	D	0	.	11.1684	0.48556	0.0:0.3117:0.6883:0.0	.	119	Q8NGX5	O10K1_HUMAN	D	119	ENSP00000289451:G119D	ENSP00000289451:G119D	G	+	2	0	OR10K1	156702331	1.000000	0.71417	0.989000	0.46669	0.285000	0.27093	4.930000	0.63462	2.311000	0.77944	0.557000	0.71058	GGC		0.537	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			9	173	0	0	0	1	0	9	173				
WDR45B	56270	broad.mit.edu	37	17	80588876	80588876	+	Silent	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr17:80588876G>A	ENST00000392325.4	-	3	359	c.165C>T	c.(163-165)ggC>ggT	p.G55G	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	55																	TTTCAACATGGCCAACTCCTC	0.318																																						ENST00000392325.4																			0											c.(163-165)ggC>ggT		WD repeat domain 45B							133.0	136.0	135.0					17																	80588876		2203	4300	6503	SO:0001819	synonymous_variant	56270							g.chr17:80588876G>A	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.165C>T	17.37:g.80588876G>A						WDR45B_ENST00000571835.1_5'UTR	p.G55G	NM_019613.3	NP_062559.2					3	359	-								O95328|Q2MCP6|Q6IBN2	Silent	SNP	ENST00000392325.4	37	c.165C>T	CCDS11815.2																																																																																				0.318	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		22	189	0	0	0	1	0	22	189				
SPRR2E	6704	broad.mit.edu	37	1	153066065	153066065	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:153066065G>A	ENST00000368751.1	-	2	237	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P55S			P22531	SPR2E_HUMAN	small proline-rich protein 2E	55					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGACATTTTTGC	0.552																																						ENST00000368751.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(163-165)Cct>Tct		small proline-rich protein 2E							246.0	239.0	241.0					1																	153066065		2203	4300	6503	SO:0001583	missense	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066065G>A	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.163C>T	1.37:g.153066065G>A	ENSP00000357740:p.Pro55Ser					SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P55S	p.P55S			P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	237	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		55					Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	c.163C>T	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	G	8.543	0.873635	0.17322	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.52754	0.65;0.65	3.54	2.6	0.31112	.	0.000000	0.34853	N	0.003622	T	0.31009	0.0783	.	.	.	0.23070	N	0.998349	D	0.52996	0.957	P	0.48921	0.595	T	0.11108	-1.0601	9	0.87932	D	0	.	8.2599	0.31779	0.0:0.0:0.7628:0.2372	.	55	P22531	SPR2E_HUMAN	S	55	ENSP00000357740:P55S;ENSP00000357739:P55S	ENSP00000357739:P55S	P	-	1	0	SPRR2E	151332689	0.987000	0.35691	0.728000	0.30774	0.007000	0.05969	1.937000	0.40193	0.468000	0.27243	0.405000	0.27470	CCT		0.552	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			82	305	0	0	0	1	0	82	305				
ZNF521	25925	broad.mit.edu	37	18	22805127	22805127	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr18:22805127C>T	ENST00000361524.3	-	4	2903	c.2755G>A	c.(2755-2757)Gtg>Atg	p.V919M	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.V699M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V919M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	919					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTTTTTCACGATGGCACTT	0.498			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2755-2757)Gtg>Atg		zinc finger protein 521							133.0	129.0	130.0					18																	22805127		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805127C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2755G>A	18.37:g.22805127C>T	ENSP00000354794:p.Val919Met					ZNF521_ENST00000538137.2_Missense_Mutation_p.V919M|ZNF521_ENST00000584787.1_Missense_Mutation_p.V699M	p.V919M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2903	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		919					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2755G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438235	0.12104	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09630	2.97;2.96	5.97	5.97	0.96955	.	0.295621	0.34362	N	0.004024	T	0.09291	0.0229	L	0.34521	1.04	0.09310	N	0.999999	B	0.14012	0.009	B	0.14578	0.011	T	0.15607	-1.0431	10	0.46703	T	0.11	-26.2255	9.4764	0.38873	0.1435:0.7856:0.0:0.0709	.	919	Q96K83	ZN521_HUMAN	M	919;953;919	ENSP00000354794:V919M;ENSP00000382352:V919M	ENSP00000354794:V919M	V	-	1	0	ZNF521	21059125	0.502000	0.26107	0.998000	0.56505	0.992000	0.81027	1.267000	0.33050	2.828000	0.97474	0.655000	0.94253	GTG		0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		8	111	0	0	0	1	0	8	111				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			197331							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	150	0	0	0	1	0	4	150				
ABCB7	22	broad.mit.edu	37	X	74376044	74376044	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chrX:74376044G>A	ENST00000373394.3	-	1	71	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ABCB7_ENST00000339447.4_Missense_Mutation_p.R22W|ABCB7_ENST00000253577.3_Missense_Mutation_p.R22W			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	22					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCGGAGTGCCGGCGCTTTTCG	0.617											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(64-66)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 7							16.0	14.0	15.0					X																	74376044		2198	4291	6489	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74376044G>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.64C>T	X.37:g.74376044G>A	ENSP00000362492:p.Arg22Trp		OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ABCB7_ENST00000339447.4_Missense_Mutation_p.R22W|ABCB7_ENST00000373394.3_Missense_Mutation_p.R22W	p.R22W	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			1	88	-			22					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.64C>T		.	.	.	.	.	.	.	.	.	.	G	16.02	3.004321	0.54254	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D;T	0.91011	-2.49;-2.77;-2.49;-2.65;0.99	4.74	1.87	0.25490	.	0.420350	0.20822	N	0.085054	T	0.76018	0.3929	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P	0.47350	0.894;0.894;0.83;0.83;0.894	B;B;B;B;B	0.36719	0.134;0.231;0.116;0.116;0.231	T	0.71337	-0.4623	10	0.87932	D	0	.	2.4827	0.04591	0.1082:0.1791:0.5131:0.1996	.	22;22;22;22;22	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	W	22;22;22;22;22;22;34	ENSP00000253577:R22W;ENSP00000343849:R22W;ENSP00000362492:R22W;ENSP00000436586:R22W;ENSP00000435521:R22W	ENSP00000253577:R22W	R	-	1	2	ABCB7	74292769	0.005000	0.15991	0.002000	0.10522	0.524000	0.34500	1.021000	0.30040	0.133000	0.18654	0.513000	0.50165	CGG		0.617	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		5	6	0	0	0	1	0	5	6				
ADAMTSL2	9719	broad.mit.edu	37	9	136401741	136401741	+	5'UTR	SNP	G	G	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:136401741G>T	ENST00000354484.4	+	0	464				ADAMTSL2_ENST00000393060.1_5'UTR|ADAMTSL2_ENST00000393061.3_Silent_p.L78L	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCTGGGCACTGGCTGGGCCCC	0.597																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(232-234)ctG>ctT		ADAMTS-like 2																																				SO:0001623	5_prime_UTR_variant	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136401741G>T	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.-94G>T	9.37:g.136401741G>T						ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR	p.L78L			Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	2	666	+			484			TSP type-1 1.		B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	c.234G>T	CCDS6976.1																																																																																				0.597	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		4	29	1	0	0.000602214	1	0.000622288	4	29				
NRXN1	9378	broad.mit.edu	37	2	51255256	51255256	+	Silent	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:51255256G>A	ENST00000406316.2	-	2	1632	c.156C>T	c.(154-156)agC>agT	p.S52S	NRXN1_ENST00000402717.3_Silent_p.S52S|NRXN1_ENST00000406859.3_Silent_p.S52S|NRXN1_ENST00000405472.3_Silent_p.S52S|NRXN1_ENST00000405581.1_Silent_p.S52S|NRXN1_ENST00000401669.2_Silent_p.S52S|NRXN1_ENST00000404971.1_Silent_p.S52S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	52	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCTCATCTCGCTCTCGCAGC	0.672																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(154-156)agC>agT		neurexin 1							9.0	12.0	11.0					2																	51255256		1987	4145	6132	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255256G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.156C>T	2.37:g.51255256G>A						NRXN1_ENST00000405581.1_Silent_p.S52S|NRXN1_ENST00000406859.3_Silent_p.S52S|NRXN1_ENST00000405472.3_Silent_p.S52S|NRXN1_ENST00000406316.2_Silent_p.S52S|NRXN1_ENST00000402717.3_Silent_p.S52S|NRXN1_ENST00000401669.2_Silent_p.S52S	p.S52S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1495	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	52			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.156C>T	CCDS54360.1																																																																																				0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	12	0	0	0	1	0	5	12				
TTN	7273	broad.mit.edu	37	2	179472151	179472151	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr2:179472151G>A	ENST00000591111.1	-	227	48565	c.48341C>T	c.(48340-48342)gCa>gTa	p.A16114V	TTN_ENST00000342992.6_Missense_Mutation_p.A15187V|TTN_ENST00000589042.1_Missense_Mutation_p.A17755V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8815V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8882V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8690V|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16114	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGCTGCTGCAAATTTGGA	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53263-53265)gCa>gTa		titin							202.0	190.0	194.0					2																	179472151		1882	4105	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472151G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48341C>T	2.37:g.179472151G>A	ENSP00000465570:p.Ala16114Val					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8882V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16114V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8815V|TTN_ENST00000460472.2_Missense_Mutation_p.A8690V|TTN_ENST00000342992.6_Missense_Mutation_p.A15187V	p.A17755V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	53488	-			16114			Ig-like 104.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53264C>T		.	.	.	.	.	.	.	.	.	.	G	15.64	2.893791	0.52121	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79435	0.4445	L	0.45698	1.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.79342	-0.1843	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	8690;8815;8882;16114	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15187;8690;8882;8815;8690	ENSP00000343764:A15187V;ENSP00000434586:A8690V;ENSP00000340554:A8882V;ENSP00000352154:A8815V	ENSP00000340554:A8882V	A	-	2	0	TTN	179180396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.434000	0.80377	2.840000	0.97914	0.655000	0.94253	GCA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	211	0	0	0	1	0	5	211				
ANXA13	312	broad.mit.edu	37	8	124693564	124693564	+	Silent	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr8:124693564C>T	ENST00000419625.1	-	11	939	c.867G>A	c.(865-867)gaG>gaA	p.E289E	ANXA13_ENST00000262219.6_Silent_p.E330E	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	289					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTGATACTTCTCTTGGAACT	0.478																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(988-990)gaG>gaA		annexin A13							191.0	200.0	197.0					8																	124693564		2203	4300	6503	SO:0001819	synonymous_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693564C>T	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.867G>A	8.37:g.124693564C>T						ANXA13_ENST00000419625.1_Silent_p.E289E	p.E330E	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1057	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		289					Q9BQR5	Silent	SNP	ENST00000419625.1	37	c.990G>A	CCDS47917.1																																																																																				0.478	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		63	248	0	0	0	1	0	63	248				
LOC645166	645166	broad.mit.edu	37	1	148932785	148932785	+	lincRNA	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:148932785G>C	ENST00000539543.1	+	0	41					NR_027355.2																						CTCCTCTGCAGACTGCTGGCC	0.572																																						ENST00000539543.1																			0																																																			645166							g.chr1:148932785G>C																													1.37:g.148932785G>C								NR_027355.1						0	41	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.572	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				9	158	0	0	0	1	0	9	158				
SAA4	6291	broad.mit.edu	37	11	18254043	18254043	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:18254043C>T	ENST00000278222.4	-	3	309	c.129G>A	c.(127-129)atG>atA	p.M43I	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	43					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GATTGGATATCATTATGTCCC	0.438																																						ENST00000278222.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						c.(127-129)atG>atA		serum amyloid A4, constitutive							164.0	160.0	162.0					11																	18254043		2199	4293	6492	SO:0001583	missense	6291							g.chr11:18254043C>T	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.129G>A	11.37:g.18254043C>T	ENSP00000278222:p.Met43Ile					SAA2-SAA4_ENST00000524555.1_RNA	p.M43I	NM_006512.3	NP_006503.2					3	309	-								Q6FHJ4	Missense_Mutation	SNP	ENST00000278222.4	37	c.129G>A	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.018008	0.19355	.	.	ENSG00000148965	ENST00000278222	T	0.09255	3.0	3.73	1.08	0.20341	.	.	.	.	.	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	9	0.66056	D	0.02	-10.987	2.2435	0.04025	0.3404:0.1687:0.0:0.4909	.	43	P35542	SAA4_HUMAN	I	43	ENSP00000278222:M43I	ENSP00000278222:M43I	M	-	3	0	SAA4	18210619	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.185000	0.16958	0.335000	0.23614	-0.373000	0.07131	ATG		0.438	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		62	139	0	0	0	1	0	62	139				
PCDHB13	56123	broad.mit.edu	37	5	140595249	140595249	+	Silent	SNP	T	T	C	rs144959109	byFrequency	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr5:140595249T>C	ENST00000341948.4	+	1	1741	c.1554T>C	c.(1552-1554)tcT>tcC	p.S518S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S518S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCTCTGGACTACG	0.692																																						ENST00000341948.4																			1	Substitution - coding silent(1)	p.S518S(1)	kidney(1)	NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1552-1554)tcT>tcC									89.0	96.0	93.0					5																	140595249		2203	4300	6503	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595249T>C	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1554T>C	5.37:g.140595249T>C							p.S518S	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1741	+			518			Cadherin 5.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.1554T>C	CCDS4255.1																																																																																				0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		5	235	0	0	0	1	0	5	235				
KIF27	55582	broad.mit.edu	37	9	86518838	86518838	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:86518838G>C	ENST00000297814.2	-	4	738	c.595C>G	c.(595-597)Caa>Gaa	p.Q199E	KIF27_ENST00000413982.1_Missense_Mutation_p.Q199E|KIF27_ENST00000334204.2_Missense_Mutation_p.Q199E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	199	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCATTCATTTGAGTGGTACCT	0.433																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(595-597)Caa>Gaa		kinesin family member 27							212.0	207.0	209.0					9																	86518838		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518838G>C	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.595C>G	9.37:g.86518838G>C	ENSP00000297814:p.Gln199Glu					KIF27_ENST00000334204.2_Missense_Mutation_p.Q199E|KIF27_ENST00000413982.1_Missense_Mutation_p.Q199E	p.Q199E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	738	-			199			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.595C>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321239	0.60634	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.74315	-0.83;-0.83;-0.83	5.57	5.57	0.84162	Kinesin, motor domain (5);	0.000000	0.56097	D	0.000036	T	0.80276	0.4593	L	0.31664	0.95	0.38464	D	0.947294	P;D;D	0.64830	0.94;0.994;0.987	P;D;D	0.69479	0.647;0.911;0.964	T	0.81553	-0.0880	10	0.48119	T	0.1	.	19.5505	0.95315	0.0:0.0:1.0:0.0	.	199;199;199	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	E	199	ENSP00000297814:Q199E;ENSP00000401688:Q199E;ENSP00000333928:Q199E	ENSP00000297814:Q199E	Q	-	1	0	KIF27	85708658	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	5.288000	0.65651	2.610000	0.88304	0.591000	0.81541	CAA		0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		64	211	0	0	0	1	0	64	211				
SIRPA	140885	broad.mit.edu	37	20	1918060	1918060	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:1918060C>T	ENST00000358771.4	+	8	1513	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	SIRPA_ENST00000356025.3_Missense_Mutation_p.A454V|SIRPA_ENST00000400068.3_Missense_Mutation_p.A458V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	454					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGAGTATGCCAGCATTCAG	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1360-1362)gCc>gTc		signal-regulatory protein alpha							102.0	100.0	100.0					20																	1918060		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1918060C>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1361C>T	20.37:g.1918060C>T	ENSP00000351621:p.Ala454Val					SIRPA_ENST00000400068.3_Missense_Mutation_p.A458V|SIRPA_ENST00000356025.3_Missense_Mutation_p.A454V	p.A454V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	8	1513	+			454					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1361C>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165461	0.57476	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.21031	2.03;2.03;2.03	4.65	4.65	0.58169	.	0.000000	0.42172	D	0.000741	T	0.34019	0.0883	L	0.32530	0.975	0.36853	D	0.887993	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.94;0.998;0.996	T	0.27297	-1.0078	10	0.56958	D	0.05	.	12.8788	0.58006	0.0:1.0:0.0:0.0	.	434;458;454	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	V	458;454;454	ENSP00000382941:A458V;ENSP00000348307:A454V;ENSP00000351621:A454V	ENSP00000348307:A454V	A	+	2	0	SIRPA	1866060	1.000000	0.71417	0.994000	0.49952	0.131000	0.20780	4.435000	0.59941	2.395000	0.81488	0.585000	0.79938	GCC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		5	163	0	0	0	1	0	5	163				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	44	0	0	0	1	0	4	44				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	90	0	0	0	1	0	4	90				
PCK1	5105	broad.mit.edu	37	20	56140433	56140433	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr20:56140433C>T	ENST00000319441.4	+	10	1606	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.A164V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	481					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GACCCCTTTGCCATGCGGCCC	0.507																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1441-1443)gCc>gTc		phosphoenolpyruvate carboxykinase 1 (soluble)							94.0	93.0	93.0					20																	56140433		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56140433C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1442C>T	20.37:g.56140433C>T	ENSP00000319814:p.Ala481Val					PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.A164V	p.A481V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		10	1606	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		481					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1442C>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312700	0.95655	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.11169	2.8;2.8	5.55	5.55	0.83447	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.73585	-0.3936	10	0.87932	D	0	-38.0624	19.5043	0.95108	0.0:1.0:0.0:0.0	.	164;481	B4DT64;P35558	.;PCKGC_HUMAN	V	163;481;164	ENSP00000319814:A481V;ENSP00000445767:A164V	ENSP00000319814:A481V	A	+	2	0	PCK1	55573839	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.711000	0.84669	2.607000	0.88179	0.561000	0.74099	GCC		0.507	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			4	122	0	0	0	1	0	4	122				
NAALADL2	254827	broad.mit.edu	37	3	175293954	175293954	+	Silent	SNP	C	C	T	rs368948927		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:175293954C>T	ENST00000454872.1	+	10	1907	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	593						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTTTGCTTACGAGGACATCA	0.393													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17741	0.0		0.0	False		,,,				2504	0.0					ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1777-1779)taC>taT		N-acetylated alpha-linked acidic dipeptidase-like 2		C		2,3754		0,2,1876	156.0	152.0	153.0		1779	1.1	1.0	3		153	0,8234		0,0,4117	no	coding-synonymous	NAALADL2	NM_207015.2		0,2,5993	TT,TC,CC		0.0,0.0532,0.0167		593/796	175293954	2,11988	1878	4117	5995	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175293954C>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1779C>T	3.37:g.175293954C>T						NAALADL2_ENST00000473253.1_3'UTR	p.Y593Y	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	10	1907	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	593					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1779C>T	CCDS46960.1																																																																																				0.393	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		39	243	0	0	0	1	0	39	243				
DYNAP	284254	broad.mit.edu	37	18	52258570	52258570	+	Splice_Site	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr18:52258570G>A	ENST00000321600.1	+	1	181	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DYNAP_ENST00000585973.1_Splice_Site_p.P48P	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	45					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AAAACCAGCCGGTGAGTGTCC	0.368																																						ENST00000321600.1																			0											c.e1+1		dynactin associated protein							133.0	132.0	133.0					18																	52258570		2203	4300	6503	SO:0001630	splice_region_variant	284254							g.chr18:52258570G>A	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.135+1G>A	18.37:g.52258570G>A						DYNAP_ENST00000585973.1_Splice_Site_p.P48_splice	p.P45_splice	NM_173629.1	NP_775900.1					1	181	+									Splice_Site	SNP	ENST00000321600.1	37	c.135_splice	CCDS11957.1																																																																																				0.368	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629	Silent	30	111	0	0	0	1	0	30	111				
DENND4B	9909	broad.mit.edu	37	1	153909074	153909074	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:153909074T>C	ENST00000361217.4	-	16	2801	c.2383A>G	c.(2383-2385)Aca>Gca	p.T795A		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	795					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTAGGCTGTGTGCAGTGCC	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2383-2385)Aca>Gca		DENN/MADD domain containing 4B							51.0	53.0	52.0					1																	153909074		2114	4226	6340	SO:0001583	missense	9909							g.chr1:153909074T>C	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2383A>G	1.37:g.153909074T>C	ENSP00000354597:p.Thr795Ala						p.T795A	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2801	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		795					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2383A>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	t	9.330	1.060207	0.19987	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06687	3.27;3.28	4.77	4.77	0.60923	.	0.056509	0.64402	D	0.000002	T	0.01976	0.0062	N	0.16903	0.455	0.51767	D	0.999936	B	0.32467	0.372	B	0.29862	0.108	T	0.50440	-0.8828	10	0.14656	T	0.56	-11.5902	13.411	0.60942	0.0:0.0:0.0:1.0	.	795	O75064	DEN4B_HUMAN	A	795;806	ENSP00000354597:T795A;ENSP00000357635:T806A	ENSP00000354597:T795A	T	-	1	0	DENND4B	152175698	0.964000	0.33143	0.936000	0.37596	0.448000	0.32197	2.091000	0.41691	1.993000	0.58246	0.379000	0.24179	ACA		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	18	0	0	0	1	0	3	18				
ARMC4	55130	broad.mit.edu	37	10	28283901	28283901	+	Silent	SNP	A	A	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:28283901A>T	ENST00000305242.5	-	2	263	c.171T>A	c.(169-171)ctT>ctA	p.L57L		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	57					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGTTCCATTCAAGTGGTTCCA	0.373																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(169-171)ctT>ctA		armadillo repeat containing 4							85.0	79.0	81.0					10																	28283901		2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28283901A>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.171T>A	10.37:g.28283901A>T							p.L57L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			2	263	-			57					A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.171T>A	CCDS7157.1																																																																																				0.373	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		4	64	0	0	0	1	0	4	64				
ZNF562	54811	broad.mit.edu	37	19	9764389	9764389	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:9764389G>C	ENST00000448622.1	-	6	679	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E	ZNF562_ENST00000293648.4_Missense_Mutation_p.Q101E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q104E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q57E|ZNF562_ENST00000587392.1_3'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q172E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q136E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q173E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GAAAGTTCTTGTCCAATAGAG	0.418																																						ENST00000448622.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(517-519)Caa>Gaa		zinc finger protein 562							96.0	90.0	92.0					19																	9764389		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764389G>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.517C>G	19.37:g.9764389G>C	ENSP00000411784:p.Gln173Glu					ZNF562_ENST00000587392.1_3'UTR|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q101E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q104E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q173E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q136E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q57E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q172E	p.Q173E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			6	679	-			173					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.517C>G	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.339243	0.00224	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	1.27	-2.55	0.06288	.	.	.	.	.	T	0.01627	0.0052	N	0.00223	-1.815	0.09310	N	1	B;B;B;B;B	0.22276	0.065;0.067;0.0;0.001;0.002	B;B;B;B;B	0.22601	0.04;0.025;0.001;0.001;0.003	T	0.36237	-0.9756	9	0.02654	T	1	.	4.2706	0.10785	0.2241:0.321:0.4549:0.0	.	57;172;136;173;101	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	E	173;173;101;136;104;57	ENSP00000410734:Q173E;ENSP00000411784:Q173E;ENSP00000293648:Q101E;ENSP00000442614:Q136E;ENSP00000440451:Q104E;ENSP00000445816:Q57E	ENSP00000293648:Q101E	Q	-	1	0	ZNF562	9625389	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.704000	0.25661	-1.004000	0.03421	-0.657000	0.03884	CAA		0.418	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		55	161	0	0	0	1	0	55	161				
NRD1	4898	broad.mit.edu	37	1	52263977	52263977	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr1:52263977C>G	ENST00000354831.7	-	24	2941	c.2752G>C	c.(2752-2754)Gaa>Caa	p.E918Q	RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.6_ENST00000607338.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000544028.1_Missense_Mutation_p.E718Q|NRD1_ENST00000352171.7_Missense_Mutation_p.E850Q|NRD1_ENST00000539524.1_Missense_Mutation_p.E786Q|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	849					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E918*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GATTTGAATTCTTTGACGAAG	0.488																																						ENST00000354831.7																			1	Substitution - Nonsense(1)	p.E918*(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2752-2754)Gaa>Caa		nardilysin (N-arginine dibasic convertase)							96.0	92.0	93.0					1																	52263977		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52263977C>G	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2752G>C	1.37:g.52263977C>G	ENSP00000346890:p.Glu918Gln					RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000544028.1_Missense_Mutation_p.E718Q|NRD1_ENST00000352171.7_Missense_Mutation_p.E850Q|NRD1_ENST00000539524.1_Missense_Mutation_p.E786Q	p.E918Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			24	2941	-			849					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2752G>C	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.24|13.24	2.177652|2.177652	0.38413|0.38413	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028|ENST00000440943	T;T;T;T|.	0.29397|.	3.13;3.13;3.13;1.57|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.396704|.	0.27831|.	N|.	0.017661|.	T|T	0.34250|0.34250	0.0891|0.0891	N|N	0.11341|0.11341	0.13|0.13	0.25521|0.25521	N|N	0.987369|0.987369	B;B;B|.	0.24368|.	0.006;0.022;0.102|.	B;B;B|.	0.23716|.	0.013;0.048;0.048|.	T|T	0.26258|0.26258	-1.0108|-1.0108	10|5	0.09843|.	T|.	0.71|.	-10.1106|-10.1106	19.8946|19.8946	0.96949|0.96949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	850;849;918|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	Q|T	850;918;786;280;850;718|264	ENSP00000262679:E850Q;ENSP00000346890:E918Q;ENSP00000444416:E786Q;ENSP00000442262:E718Q|.	ENSP00000262679:E850Q|.	E|R	-|-	1|2	0|0	NRD1|NRD1	52036565|52036565	0.079000|0.079000	0.21365|0.21365	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.903000|0.903000	0.28475|0.28475	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.488	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		27	80	0	0	0	1	0	27	80				
ZNF646	9726	broad.mit.edu	37	16	31092135	31092135	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr16:31092135C>T	ENST00000394979.2	+	1	4913	c.4490C>T	c.(4489-4491)cCt>cTt	p.P1497L	ZNF646_ENST00000300850.5_Missense_Mutation_p.P1497L			O15015	ZN646_HUMAN	zinc finger protein 646	1497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACAGGAGTCCTTGCCACGCT	0.587																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(4489-4491)cCt>cTt		zinc finger protein 646							55.0	63.0	60.0					16																	31092135		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092135C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4490C>T	16.37:g.31092135C>T	ENSP00000378429:p.Pro1497Leu					ZNF646_ENST00000300850.5_Missense_Mutation_p.P1497L	p.P1497L			O15015	ZN646_HUMAN			1	4913	+			1497					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.4490C>T		.	.	.	.	.	.	.	.	.	.	C	14.00	2.406330	0.42715	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08282	3.11;3.14	5.65	4.7	0.59300	.	.	.	.	.	T	0.07052	0.0179	N	0.24115	0.695	0.46458	D	0.999051	B	0.21606	0.058	B	0.19946	0.027	T	0.24404	-1.0161	9	0.46703	T	0.11	-0.6757	12.2507	0.54597	0.0:0.9175:0.0:0.0825	.	1497	O15015-2	.	L	1497	ENSP00000300850:P1497L;ENSP00000378429:P1497L	ENSP00000300850:P1497L	P	+	2	0	ZNF646	30999636	0.826000	0.29277	0.804000	0.32291	0.872000	0.50106	2.797000	0.47877	1.394000	0.46624	0.650000	0.86243	CCT		0.587	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		14	41	0	0	0	1	0	14	41				
IFT122	55764	broad.mit.edu	37	3	129196910	129196910	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:129196910G>A	ENST00000348417.2	+	12	1276	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	IFT122_ENST00000296266.3_Missense_Mutation_p.R451Q|IFT122_ENST00000507564.1_Missense_Mutation_p.R392Q|IFT122_ENST00000504021.1_Missense_Mutation_p.R294Q|IFT122_ENST00000431818.2_Missense_Mutation_p.R250Q|IFT122_ENST00000440957.2_Missense_Mutation_p.R191Q|IFT122_ENST00000349441.2_Missense_Mutation_p.R289Q|IFT122_ENST00000347300.2_Missense_Mutation_p.R341Q	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	400					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACAGAAATCGATTGGCTATC	0.378																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1351-1353)cGa>cAa		intraflagellar transport 122 homolog (Chlamydomonas)							94.0	93.0	93.0					3																	129196910		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129196910G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1199G>A	3.37:g.129196910G>A	ENSP00000324005:p.Arg400Gln					IFT122_ENST00000348417.2_Missense_Mutation_p.R400Q|IFT122_ENST00000504021.1_Missense_Mutation_p.R294Q|IFT122_ENST00000431818.2_Missense_Mutation_p.R250Q|IFT122_ENST00000507564.1_Missense_Mutation_p.R392Q|IFT122_ENST00000440957.2_Missense_Mutation_p.R191Q|IFT122_ENST00000349441.2_Missense_Mutation_p.R289Q|IFT122_ENST00000347300.2_Missense_Mutation_p.R341Q	p.R451Q	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			13	1544	+			400					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.1352G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	36	5.615943	0.96649	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	D	0.91646	0.7360	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.999;0.999;0.999	D;D;P;D;P;D;D;D	0.77557	0.99;0.945;0.904;0.928;0.904;0.956;0.978;0.99	D	0.92650	0.6132	10	0.72032	D	0.01	-5.5935	19.4699	0.94959	0.0:0.0:1.0:0.0	.	191;392;294;240;289;341;400;451	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	Q	341;451;392;341;250;294;289;400;240;191	ENSP00000323973:R341Q;ENSP00000296266:R451Q;ENSP00000425536:R392Q;ENSP00000410946:R250Q;ENSP00000422179:R294Q;ENSP00000324165:R289Q;ENSP00000324005:R400Q;ENSP00000401569:R191Q	ENSP00000296266:R451Q	R	+	2	0	IFT122	130679600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.082000	0.94059	2.608000	0.88229	0.591000	0.81541	CGA		0.378	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		18	189	0	0	0	1	0	18	189				
PEX1	5189	broad.mit.edu	37	7	92130948	92130948	+	Missense_Mutation	SNP	C	C	A	rs376273608		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr7:92130948C>A	ENST00000248633.4	-	15	2551	c.2456G>T	c.(2455-2457)cGc>cTc	p.R819L	PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R497L|PEX1_ENST00000428214.1_Missense_Mutation_p.R762L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	819					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAGAAATCCGCGGAGAGCCTT	0.368																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2455-2457)cGc>cTc		peroxisomal biogenesis factor 1							67.0	68.0	68.0					7																	92130948		2203	4299	6502	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92130948C>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2456G>T	7.37:g.92130948C>A	ENSP00000248633:p.Arg819Leu					PEX1_ENST00000438045.1_Missense_Mutation_p.R497L|PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.R762L	p.R819L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		15	2551	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	819					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2456G>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	c	9.845	1.192081	0.21954	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;T	0.82803	-1.65;-1.65;2.24	5.78	-0.605	0.11623	.	0.460284	0.25422	N	0.030799	T	0.77725	0.4173	M	0.64630	1.985	0.09310	N	0.999999	B;B;B	0.17268	0.002;0.021;0.002	B;B;B	0.16722	0.016;0.008;0.006	T	0.67726	-0.5596	10	0.59425	D	0.04	2.8001	10.0716	0.42337	0.0:0.3304:0.0:0.6696	.	497;611;819	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	L	497;819;762	ENSP00000410438:R497L;ENSP00000248633:R819L;ENSP00000394413:R762L	ENSP00000248633:R819L	R	-	2	0	PEX1	91968884	0.939000	0.31865	0.397000	0.26308	0.136000	0.21042	1.658000	0.37376	-0.327000	0.08551	-0.404000	0.06349	CGC		0.368	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		4	132	1	0	1	1	1	4	132				
MYNN	55892	broad.mit.edu	37	3	169500368	169500368	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr3:169500368G>T	ENST00000349841.5	+	5	1999	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.D446Y|MYNN_ENST00000392733.1_Missense_Mutation_p.D446Y|MYNN_ENST00000356716.4_Missense_Mutation_p.D446Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTATGTATGTGATACCTGTGG	0.428																																						ENST00000349841.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1336-1338)Gat>Tat		myoneurin							214.0	181.0	192.0					3																	169500368		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169500368G>T	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1336G>T	3.37:g.169500368G>T	ENSP00000326240:p.Asp446Tyr					MYNN_ENST00000392733.1_Missense_Mutation_p.D446Y|MYNN_ENST00000356716.4_Missense_Mutation_p.D446Y|MYNN_ENST00000544106.1_Missense_Mutation_p.D446Y	p.D446Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		5	1999	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		446					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.1336G>T	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809131	0.70797	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.07688	3.17;3.17;3.19;3.19	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.56124	1.755	0.80722	D	1	P;D	0.89917	0.892;1.0	P;D	0.85130	0.643;0.997	T	0.00115	-1.2039	10	0.72032	D	0.01	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	446;446	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Y	446	ENSP00000349150:D446Y;ENSP00000326240:D446Y;ENSP00000376492:D446Y;ENSP00000440637:D446Y	ENSP00000326240:D446Y	D	+	1	0	MYNN	170983062	1.000000	0.71417	0.992000	0.48379	0.556000	0.35491	8.062000	0.89475	2.733000	0.93635	0.655000	0.94253	GAT		0.428	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		13	189	1	0	0.00136819	1	0.00139062	13	189				
RELN	5649	broad.mit.edu	37	7	103230055	103230055	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr7:103230055G>A	ENST00000428762.1	-	28	4292	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F	RELN_ENST00000424685.2_Missense_Mutation_p.S1378F|RELN_ENST00000343529.5_Missense_Mutation_p.S1378F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1378					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S1378F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGATGCAAGAGACCTTGGAAT	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			1	Substitution - Missense(1)	p.S1378F(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(4132-4134)tCt>tTt		reelin							189.0	171.0	177.0					7																	103230055		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103230055G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4133C>T	7.37:g.103230055G>A	ENSP00000392423:p.Ser1378Phe					RELN_ENST00000428762.1_Missense_Mutation_p.S1378F|RELN_ENST00000343529.5_Missense_Mutation_p.S1378F	p.S1378F			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	28	4292	-			1378					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4133C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851152	0.71719	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41758	0.99;1.81;0.99	5.48	4.58	0.56647	.	0.252260	0.41938	D	0.000799	T	0.60881	0.2303	L	0.58101	1.795	0.41851	D	0.990173	D;D	0.71674	0.998;0.996	D;D	0.73380	0.936;0.98	T	0.66188	-0.5986	10	0.87932	D	0	.	15.8878	0.79264	0.0:0.0:0.8633:0.1367	.	1378;1378	P78509-2;P78509	.;RELN_HUMAN	F	1378	ENSP00000392423:S1378F;ENSP00000345694:S1378F;ENSP00000388446:S1378F	ENSP00000345694:S1378F	S	-	2	0	RELN	103017291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.685000	0.74543	1.427000	0.47276	0.563000	0.77884	TCT		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		76	129	0	0	0	1	0	76	129				
MGAT1	4245	broad.mit.edu	37	5	180219055	180219079	+	Frame_Shift_Del	DEL	GGGCGTATGCAGGCCCGCCCCTGCC	GGGCGTATGCAGGCCCGCCCCTGCC	-	rs573544483|rs371643948		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr5:180219055_180219079delGGGCGTATGCAGGCCCGCCCCTGCC	ENST00000446023.2	-	3	1643_1667	c.893_917delGGCAGGGGCGGGCCTGCATACGCCC	c.(892-918)cggcaggggcgggcctgcatacgccctfs	p.RQGRACIRP298fs	MGAT1_ENST00000393340.3_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000333055.3_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000307826.4_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000427865.2_Frame_Shift_Del_p.RQGRACIRP298fs	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	298					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGATCTCAGGGCGTATGCAGGCCCGCCCCTGCCGCTGCTCCGG	0.627																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(892-918)ctfs		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase																																				SO:0001589	frameshift_variant	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219055_180219079delGGGCGTATGCAGGCCCGCCCCTGCC	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.893_917delGGCAGGGGCGGGCCTGCATACGCCC	5.37:g.180219055_180219079delGGGCGTATGCAGGCCCGCCCCTGCC	ENSP00000404718:p.Arg298fs					MGAT1_ENST00000427865.2_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000393340.3_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000307826.4_Frame_Shift_Del_p.RQGRACIRP298fs|MGAT1_ENST00000333055.3_Frame_Shift_Del_p.RQGRACIRP298fs	p.RQGRACIRP298fs	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1643_1667	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	298					A8K404|B3KRU8|D3DWR1|Q6IBE3	Frame_Shift_Del	DEL	ENST00000446023.2	37	c.893_917delGGCAGGGGCGGGCCTGCATACGCCC	CCDS4458.1																																																																																				0.627	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		18	47						18	47	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Intron	INS	-	-	A	rs201431159		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr6:123786032_123786033insA	ENST00000398178.3	-	10	953				RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|TRDN_ENST00000334268.4_Intron|TRDN_ENST00000546248.1_Frame_Shift_Ins_p.S297fs|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386																																						ENST00000546248.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(889-891)ttafs		triadin																																				SO:0001627	intron_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123786032_123786033insA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17->T	6.37:g.123786042_123786042dupA						RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA	p.L297fs	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	9	1022_1023	-			0					A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Ins	INS	ENST00000398178.3	37	c.889_890insT	CCDS55053.1																																																																																				0.386	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-	rs201725154		TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		9	186						9	186	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7325965	7325965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr10:7325965delC	ENST00000361972.4	-	6	763	c.673delG	c.(673-675)gacfs	p.D225fs	SFMBT2_ENST00000397167.1_Frame_Shift_Del_p.D225fs	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	225					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GATTCAGTGTCCTCCAATCCC	0.428																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(673-675)acfs		Scm-like with four mbt domains 2							165.0	142.0	150.0					10																	7325965		2203	4300	6503	SO:0001589	frameshift_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7325965delC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.673delG	10.37:g.7325965delC	ENSP00000355109:p.Asp225fs					SFMBT2_ENST00000397167.1_Frame_Shift_Del_p.D225fs	p.D225fs	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			6	763	-			225					A7MD09|Q9HCF5	Frame_Shift_Del	DEL	ENST00000361972.4	37	c.673delG	CCDS31138.1																																																																																				0.428	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		17	159						17	159	---	---	---	---
TBC1D27	96597	broad.mit.edu	37	17	16828247	16828247	+	RNA	DEL	G	G	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr17:16828247delG	ENST00000261651.2	-	0	3371									TBC1 domain family, member 27																		TGACATCCTTGGAGGGGCACT	0.592																																						ENST00000261651.2																			0																																																			96597							g.chr17:16828247delG	AK024458		17p11.2	2013-04-03			ENSG00000128438	ENSG00000128438			28104	other	unknown							Standard	XR_424798		Approved				OTTHUMG00000059260		17.37:g.16828247delG														0	3371	-									RNA	DEL	ENST00000261651.2	37																																																																																						0.592	TBC1D27-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131472.1	XM_002343481		2	4						2	4	---	---	---	---
PTGIR	5739	broad.mit.edu	37	19	47127419	47127419	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr19:47127419delG	ENST00000291294.2	-	2	197	c.64delC	c.(64-66)ctgfs	p.L22fs	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Frame_Shift_Del_p.L22fs|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	22					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	ACGAACATCAGGGTGCTGGTG	0.721																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(64-66)tgfs		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						4.0	3.0	4.0					19																	47127419		1741	3568	5309	SO:0001589	frameshift_variant	5739				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127419delG		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.64delC	19.37:g.47127419delG	ENSP00000291294:p.Leu22fs					PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Frame_Shift_Del_p.L22fs|PTGIR_ENST00000594275.1_Intron	p.L22fs	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	197	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	22						Frame_Shift_Del	DEL	ENST00000291294.2	37	c.64delC	CCDS12686.1																																																																																				0.721	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			2	4						2	4	---	---	---	---
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802|rs201945957|rs66539476|rs200974781|rs574686543	byFrequency	TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000421572.1	+	0	404				DGCR5_ENST00000438934.1_RNA|DGCR5_ENST00000399539.3_RNA|DGCR5_ENST00000440005.2_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411														1731	0.345647	0.7247	0.1945	5008	,	,		12365	0.2004		0.2217	False		,,,				2504	0.2178					ENST00000438934.1																			0																																																			26220							g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18976301_18976324delTATTTATTTATTTATTTATTTATT						DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA								0	394	+									RNA	DEL	ENST00000421572.1	37																																																																																						0.411	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		3	4						3	4	---	---	---	---
SMTN	6525	broad.mit.edu	37	22	31489490	31489490	+	Intron	DEL	G	G	-			TCGA-MZ-A5BI-01A-31D-A34J-08	TCGA-MZ-A5BI-10C-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a287c4-436c-45df-b6d3-8b58be33c4ec	58ef8e5f-1363-4d23-ae50-ec7b9bc24456	g.chr22:31489490delG	ENST00000347557.2	+	11	1850				SMTN_ENST00000358743.1_Intron|SMTN_ENST00000404574.1_Frame_Shift_Del_p.L19fs|SMTN_ENST00000333137.7_Intron	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGGAGCAGTTGGGCCGGGCAC	0.711																																						ENST00000404574.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(55-57)ttfs		smoothelin							3.0	3.0	3.0					22																	31489490		779	1823	2602	SO:0001627	intron_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31489490delG	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1632+1657G>-	22.37:g.31489490delG						SMTN_ENST00000347557.2_Intron|SMTN_ENST00000333137.7_Intron|SMTN_ENST00000358743.1_Intron	p.L19fs			P53814	SMTN_HUMAN			1	147	+			0					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Frame_Shift_Del	DEL	ENST00000347557.2	37	c.57delG	CCDS13886.1																																																																																				0.711	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		2	4						2	4	---	---	---	---
