#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
ANKRD54	129138	broad.mit.edu	37	22	38236241	38236241	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr22:38236241G>C	ENST00000215941.4	-	2	521	c.329C>G	c.(328-330)gCt>gGt	p.A110G	ANKRD54_ENST00000411961.2_Intron|ANKRD54_ENST00000406423.1_5'UTR|ANKRD54_ENST00000609454.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	110	Nuclear localization signal (NLS). {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TCTCTTCAGAGCTGTAAAGAG	0.547																																						ENST00000215941.4																			0				lung(1)	1						c.e2-1		ankyrin repeat domain 54							163.0	153.0	156.0					22																	38236241		2203	4300	6503	SO:0001630	splice_region_variant	129138							g.chr22:38236241G>C	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.329-1C>G	22.37:g.38236241G>C						ANKRD54_ENST00000411961.2_Intron|ANKRD54_ENST00000406423.1_5'UTR	p.A110_splice	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN			2	521	-	Melanoma(58;0.045)		110					Q6ZSB1|Q9UGV1	Splice_Site	SNP	ENST00000215941.4	37	c.328_splice	CCDS13959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902571|2.902571	0.52227|0.52227	.|.	.|.	ENSG00000100124|ENSG00000100124	ENST00000215941;ENST00000434930|ENST00000458278	T;T|.	0.70164|.	-0.25;-0.46|.	4.43|4.43	3.38|3.38	0.38709|0.38709	Ankyrin repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B|.	0.19200|.	0.034|.	B|.	0.20384|.	0.029|.	T|T	0.14392|0.14392	-1.0474|-1.0474	10|5	0.02654|.	T|.	1|.	.|.	12.9286|12.9286	0.58275|0.58275	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	110|.	Q6NXT1|.	ANR54_HUMAN|.	G|V	110|33	ENSP00000215941:A110G;ENSP00000387507:A110G|.	ENSP00000215941:A110G|.	A|L	-|-	2|1	0|0	ANKRD54|ANKRD54	36566187|36566187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	4.870000|4.870000	0.63035|0.63035	2.309000|2.309000	0.77851|0.77851	0.543000|0.543000	0.68304|0.68304	GCT|CTC		0.547	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797	Missense_Mutation	3	100	0	0	0	0.004672	0	3	100				
AP3B1	8546	broad.mit.edu	37	5	77452179	77452179	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:77452179G>C	ENST00000255194.6	-	14	1551	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G	AP3B1_ENST00000519295.1_Missense_Mutation_p.A410G	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	459					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACACTTTCAGCAACAACTAT	0.294									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1375-1377)gCt>gGt		adaptor-related protein complex 3, beta 1 subunit							116.0	113.0	114.0					5																	77452179		2202	4299	6501	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452179G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1376C>G	5.37:g.77452179G>C	ENSP00000255194:p.Ala459Gly					AP3B1_ENST00000519295.1_Missense_Mutation_p.A410G	p.A459G	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	14	1551	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	459					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1376C>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798016	0.70567	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.27720	1.65;1.65	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	L	0.45352	1.415	0.80722	D	1	B	0.23990	0.095	B	0.28011	0.085	T	0.06285	-1.0835	10	0.45353	T	0.12	-20.4636	19.4893	0.95044	0.0:0.0:1.0:0.0	.	459	O00203	AP3B1_HUMAN	G	459;410;459;363	ENSP00000255194:A459G;ENSP00000430597:A410G	ENSP00000255194:A459G	A	-	2	0	AP3B1	77487935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.676000	0.91093	0.563000	0.77884	GCT		0.294	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			27	43	0	0	0	0.030593	0	27	43				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		33	53	0	0	0	0.064281	0	33	53				
AHNAK2	113146	broad.mit.edu	37	14	105409862	105409862	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:105409862G>A	ENST00000333244.5	-	7	12045	c.11926C>T	c.(11926-11928)Ccg>Tcg	p.P3976S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3976						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P3976S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.617																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.P3976S(1)	kidney(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11926-11928)Ccg>Tcg		AHNAK nucleoprotein 2							233.0	235.0	234.0					14																	105409862		2024	4179	6203	SO:0001583	missense	113146					nucleus		g.chr14:105409862G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11926C>T	14.37:g.105409862G>A	ENSP00000353114:p.Pro3976Ser					AHNAK2_ENST00000557457.1_Intron	p.P3976S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12045	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3976					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11926C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	17.68	3.449374	0.63178	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	4.0	4.0	0.46444	.	.	.	.	.	T	0.23370	0.0565	M	0.91038	3.17	0.41392	D	0.987628	D	0.89917	1.0	D	0.91635	0.999	T	0.18429	-1.0337	9	0.48119	T	0.1	.	15.1546	0.72730	0.0:0.0:1.0:0.0	.	3976	Q8IVF2	AHNK2_HUMAN	S	3976	ENSP00000353114:P3976S	ENSP00000353114:P3976S	P	-	1	0	AHNAK2	104480907	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	6.268000	0.72552	1.805000	0.52779	0.306000	0.20318	CCG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	340	0	0	0	0.029380	0	5	340				
HECTD4	283450	broad.mit.edu	37	12	112600941	112600941	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:112600941C>T	ENST00000430131.2	-	74	12904	c.11759G>A	c.(11758-11760)cGc>cAc	p.R3920H	HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H|HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4196H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3920	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R4170H(1)|p.R3920H(1)									GAACGGGATGCGCTCCTGGTT	0.612																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.R4170H(1)|p.R3920H(1)	large_intestine(2)								c.(12586-12588)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							97.0	110.0	106.0					12																	112600941		2080	4205	6285	SO:0001583	missense	283450							g.chr12:112600941C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11759G>A	12.37:g.112600941C>T	ENSP00000404379:p.Arg3920His					HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H|HECTD4_ENST00000430131.2_Missense_Mutation_p.R3920H	p.R4196H	NM_001109662.3	NP_001103132.3					75	12982	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.12587G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.491109	0.96339	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85041	0.0923	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	3920	Q9Y4D8	K0614_HUMAN	H	4170;3920;4196;385	ENSP00000366783:R4170H;ENSP00000404379:R3920H;ENSP00000449784:R4196H	ENSP00000366783:R4170H	R	-	2	0	C12orf51	111085324	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.372000	0.79612	2.758000	0.94735	0.561000	0.74099	CGC		0.612	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	103	0	0	0	0.009096	0	4	103				
ADCY10	55811	broad.mit.edu	37	1	167829094	167829094	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:167829094A>G	ENST00000367851.4	-	16	2031	c.1847T>C	c.(1846-1848)tTg>tCg	p.L616S	ADCY10_ENST00000367848.1_Missense_Mutation_p.L524S|ADCY10_ENST00000545172.1_Missense_Mutation_p.L463S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	616					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGCTTTTTCAAGGTGCTCAT	0.393																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1570-1572)tTg>tCg		adenylate cyclase 10 (soluble)							157.0	163.0	161.0					1																	167829094		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167829094A>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1847T>C	1.37:g.167829094A>G	ENSP00000356825:p.Leu616Ser					ADCY10_ENST00000545172.1_Missense_Mutation_p.L463S|ADCY10_ENST00000367851.4_Missense_Mutation_p.L616S	p.L524S			Q96PN6	ADCYA_HUMAN			16	2068	-			616					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1571T>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	0.150	-1.092873	0.01858	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.62498	0.02;0.02;0.02	5.4	-5.73	0.02398	.	1.525520	0.03594	N	0.232275	T	0.22244	0.0536	L	0.43152	1.355	0.24027	N	0.996124	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.15052	0.012;0.005;0.002	T	0.04678	-1.0934	9	0.07990	T	0.79	0.7408	7.3024	0.26428	0.4131:0.0:0.4646:0.1223	.	463;524;616	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	463;616;524	ENSP00000441992:L463S;ENSP00000356825:L616S;ENSP00000356822:L524S	ENSP00000356822:L524S	L	-	2	0	ADCY10	166095718	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.138000	0.10374	-0.823000	0.04301	-0.912000	0.02778	TTG		0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		4	174	0	0	0	0.014758	0	4	174				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(364-366)gaT>gaG		deltex homolog 1 (Drosophila)							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	869	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			3	37	0	0	0	0.004672	0	3	37				
NCOA4	8031	broad.mit.edu	37	10	51585100	51585100	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr10:51585100T>G	ENST00000443446.1	+	8	1428	c.1199T>G	c.(1198-1200)gTa>gGa	p.V400G	NCOA4_ENST00000414907.2_Missense_Mutation_p.V234G|NCOA4_ENST00000438493.1_Missense_Mutation_p.V416G|NCOA4_ENST00000452682.1_Missense_Mutation_p.V416G|NCOA4_ENST00000374087.4_Missense_Mutation_p.V400G|NCOA4_ENST00000344348.6_Missense_Mutation_p.V400G|NCOA4_ENST00000430396.2_Missense_Mutation_p.V300G|NCOA4_ENST00000374082.1_Missense_Mutation_p.V400G	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	400					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCATGTAAGGTAGAGGAGGTG	0.507			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1246-1248)gTa>gGa		nuclear receptor coactivator 4							56.0	54.0	55.0					10																	51585100		2203	4299	6502	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51585100T>G	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1199T>G	10.37:g.51585100T>G	ENSP00000390713:p.Val400Gly					NCOA4_ENST00000374087.4_Missense_Mutation_p.V400G|NCOA4_ENST00000344348.6_Missense_Mutation_p.V400G|NCOA4_ENST00000430396.2_Missense_Mutation_p.V300G|NCOA4_ENST00000374082.1_Missense_Mutation_p.V400G|NCOA4_ENST00000414907.2_Missense_Mutation_p.V234G|NCOA4_ENST00000443446.1_Missense_Mutation_p.V400G|NCOA4_ENST00000438493.1_Missense_Mutation_p.V416G	p.V416G	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1499	+			400					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.1247T>G	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193738	0.38707	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.6	5.6	0.85130	.	0.197739	0.45126	D	0.000388	T	0.63295	0.2499	M	0.69823	2.125	0.58432	D	0.999991	D;P;P;D	0.76494	0.999;0.666;0.666;0.999	D;B;B;D	0.66196	0.942;0.154;0.212;0.942	T	0.64888	-0.6301	9	.	.	.	-4.4427	10.1741	0.42929	0.0:0.0742:0.0:0.9258	.	300;416;416;400	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	G	416;416;300;400;234;400;400;400	ENSP00000405146:V416G;ENSP00000395465:V416G;ENSP00000393053:V300G;ENSP00000363200:V400G;ENSP00000411018:V234G;ENSP00000344552:V400G;ENSP00000363195:V400G;ENSP00000390713:V400G	.	V	+	2	0	NCOA4	51255106	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	4.826000	0.62715	2.139000	0.66308	0.528000	0.53228	GTA		0.507	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		6	44	0	0	0	0.093190	0	6	44				
MUC17	140453	broad.mit.edu	37	7	100679466	100679466	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr7:100679466C>A	ENST00000306151.4	+	3	4833	c.4769C>A	c.(4768-4770)gCt>gAt	p.A1590D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1590	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAGGCTAACACCCTT	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4768-4770)gCt>gAt		mucin 17, cell surface associated							245.0	231.0	236.0					7																	100679466		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679466C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4769C>A	7.37:g.100679466C>A	ENSP00000302716:p.Ala1590Asp						p.A1590D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4833	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1590			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4769C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.645	-0.515478	0.04200	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.815	-0.289	0.12851	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.31686	0.134	T	0.46233	-0.9206	9	0.15499	T	0.54	.	3.3888	0.07281	0.0:0.6743:0.0:0.3257	.	1590	Q685J3	MUC17_HUMAN	D	1590	ENSP00000302716:A1590D	ENSP00000302716:A1590D	A	+	2	0	MUC17	100466186	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.101000	0.03336	-0.071000	0.12886	0.089000	0.15464	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		83	173	1	0	6.11987e-43	0.048971	7.86841e-43	83	173				
LCT	3938	broad.mit.edu	37	2	136567521	136567521	+	Missense_Mutation	SNP	C	C	T	rs565990613		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:136567521C>T	ENST00000264162.2	-	8	2406	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	799	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AATGAGGGAACGAGCAATGTA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19434	0.0		0.0	False		,,,				2504	0.001					ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2395-2397)cGt>cAt		lactase							57.0	58.0	58.0					2																	136567521		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567521C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2396G>A	2.37:g.136567521C>T	ENSP00000264162:p.Arg799His						p.R799H	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2406	-			799			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2396G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378574	0.61735	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50277	0.75	5.71	4.82	0.62117	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.182021	0.49916	D	0.000124	T	0.64832	0.2634	M	0.70595	2.14	0.46167	D	0.998908	D	0.67145	0.996	D	0.65987	0.94	T	0.63466	-0.6631	10	0.44086	T	0.13	-15.3064	14.4898	0.67642	0.0:0.9297:0.0:0.0703	.	799	P09848	LPH_HUMAN	H	799;231	ENSP00000264162:R799H	ENSP00000264162:R799H	R	-	2	0	LCT	136283991	0.998000	0.40836	1.000000	0.80357	0.675000	0.39556	2.829000	0.48128	2.868000	0.98415	0.557000	0.71058	CGT		0.438	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		23	47	0	0	0	0.062417	0	23	47				
ARHGEF7	8874	broad.mit.edu	37	13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000426073.2_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184.0	178.0	180.0					13																	111862267		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862267G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000544132.1_Intron	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		5	135	0	0	0	0.014758	0	5	135				
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:18891209C>A	ENST00000317658.3	+	1	165	c.7C>A	c.(7-9)Ctt>Att	p.L3I	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438																																						ENST00000317658.3																			1	Substitution - Missense(1)	p.L3V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)Ctt>Att		capping protein (actin filament) muscle Z-line, alpha 3							82.0	80.0	80.0					12																	18891209		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891209C>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.7C>A	12.37:g.18891209C>A	ENSP00000326238:p.Leu3Ile						p.L3I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	165	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.7C>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214819	0.22373	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.31	4.35	0.52113	.	0.466123	0.19910	N	0.103315	T	0.22704	0.0548	N	0.08118	0	0.18873	N	0.999987	B	0.20052	0.041	B	0.16722	0.016	T	0.08659	-1.0711	9	0.40728	T	0.16	-9.6728	10.264	0.43445	0.2104:0.7896:0.0:0.0	.	3	Q96KX2	CAZA3_HUMAN	I	3	.	ENSP00000326238:L3I	L	+	1	0	CAPZA3	18782476	0.095000	0.21747	0.958000	0.39756	0.469000	0.32828	0.732000	0.26072	2.763000	0.94921	0.563000	0.77884	CTT		0.438	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		5	89	1	0	3.59834e-05	0.021553	4.49792e-05	5	89				
PRODH2	58510	broad.mit.edu	37	19	36303117	36303117	+	Silent	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:36303117C>T	ENST00000301175.3	-	4	674	c.657G>A	c.(655-657)cgG>cgA	p.R219R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	219					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGAGGCCCCGTGACAGGT	0.647																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(655-657)cgG>cgA		proline dehydrogenase (oxidase) 2							53.0	58.0	56.0					19																	36303117		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303117C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.657G>A	19.37:g.36303117C>T							p.R219R	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	674	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		219						Silent	SNP	ENST00000301175.3	37	c.657G>A	CCDS12478.1																																																																																				0.647	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		22	45	0	0	0	0.062417	0	22	45				
SF3B3	23450	broad.mit.edu	37	16	70569224	70569224	+	Silent	SNP	A	A	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr16:70569224A>T	ENST00000302516.5	+	6	937	c.726A>T	c.(724-726)tcA>tcT	p.S242S	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	242					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGGAGGGTCAGATGGTCCAA	0.448																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(724-726)tcA>tcT		splicing factor 3b, subunit 3, 130kDa							215.0	220.0	218.0					16																	70569224		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70569224A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.726A>T	16.37:g.70569224A>T							p.S242S	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			6	937	+		Ovarian(137;0.0694)	242					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.726A>T	CCDS10894.1																																																																																				0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		92	140	0	0	0	0.048971	0	92	140				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	86	0	0	0	0.009096	0	4	86				
OGFR	11054	broad.mit.edu	37	20	61444704	61444704	+	Silent	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:61444704G>A	ENST00000290291.6	+	7	1762	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	OGFR_ENST00000370461.1_Silent_p.S527S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	579	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGAGCCCATCGGAGACCCCAG	0.741																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1579-1581)tcG>tcA		opioid growth factor receptor							4.0	9.0	8.0					20																	61444704		1743	3746	5489	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444704G>A	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1737G>A	20.37:g.61444704G>A						OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.S579S	p.S527S			Q9NZT2	OGFR_HUMAN			5	3858	+	Breast(26;3.65e-08)		579			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1581G>A	CCDS13504.1																																																																																				0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			3	9	0	0	0	0.029380	0	3	9				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	34	0	0	0	0.038147	0	6	34				
DPP7	29952	broad.mit.edu	37	9	140007195	140007195	+	Splice_Site	SNP	A	A	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:140007195A>C	ENST00000371579.2	-	8	936		c.e8+1			NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7							cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGGGAAGGGCACCTGCCAGTG	0.721																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.e8+1		dipeptidyl-peptidase 7							13.0	15.0	14.0					9																	140007195		2181	4289	6470	SO:0001630	splice_region_variant	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140007195A>C	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.931+1T>G	9.37:g.140007195A>C								NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	8	936	-	all_cancers(76;0.0926)							A8K7U7|Q5VSF1|Q969X4	Splice_Site	SNP	ENST00000371579.2	37		CCDS7030.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145613	0.37923	.	.	ENSG00000176978	ENST00000371579	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6765	0.45789	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP7	139127016	0.705000	0.27846	0.927000	0.36925	0.130000	0.20726	2.904000	0.48719	1.820000	0.53075	0.374000	0.22700	.		0.721	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379	Intron	3	14	0	0	0	0.004672	0	3	14				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	53	0	0	0	0.004672	0	3	53				
FLI1	2313	broad.mit.edu	37	11	128642762	128642762	+	Silent	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:128642762C>T	ENST00000527786.2	+	4	960	c.471C>T	c.(469-471)tcC>tcT	p.S157S	FLI1_ENST00000344954.6_Silent_p.S124S|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.2_Silent_p.S124S|FLI1_ENST00000281428.8_Silent_p.S91S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	157	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCGACACATCCTTTTTCCAGA	0.522			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(370-372)tcC>tcT		Fli-1 proto-oncogene, ETS transcription factor							210.0	218.0	215.0					11																	128642762		2118	4237	6355	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642762C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.471C>T	11.37:g.128642762C>T						FLI1_ENST00000429175.2_Silent_p.S157S|FLI1_ENST00000281428.8_Silent_p.S91S|FLI1_ENST00000534087.1_Silent_p.S124S|FLI1_ENST00000525560.1_Intron	p.S124S			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	4	760	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	157			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.372C>T	CCDS44768.1																																																																																				0.522	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		4	172	0	0	0	0.009096	0	4	172				
TSIX	9383	broad.mit.edu	37	X	73043675	73043675	+	lincRNA	SNP	A	A	G			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chrX:73043675A>G	ENST00000604411.1	+	0	31636				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TCACACCTATATTACTTCATT	0.368																																						ENST00000604411.1																			0																				84.0	89.0	88.0					X																	73043675		876	1991	2867			0							g.chrX:73043675A>G			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043675A>G						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	31636	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.368	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		4	105	0	0	0	0.014758	0	4	105				
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1				BMS1 pseudogene 20																		CCAGCCTTCTGTAACCCAGTA	0.428													.|||	2693	0.53774	0.6089	0.5115	5008	,	,		17865	0.4008		0.5577	False		,,,				2504	0.5808					ENST00000426066.1																			0																																																			0							g.chr22:22664639G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664639G>A								NR_027293.1						0	820	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.428	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	17	0	0	0	0.014758	0	4	17				
PCDHB6	56130	broad.mit.edu	37	5	140531461	140531461	+	Missense_Mutation	SNP	C	C	A	rs61730259	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:140531461C>A	ENST00000231136.1	+	1	1623	c.1623C>A	c.(1621-1623)agC>agA	p.S541R	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S405R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.682																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1621-1623)agC>agA									50.0	57.0	54.0					5																	140531461		2202	4299	6501	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531461C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1623C>A	5.37:g.140531461C>A	ENSP00000231136:p.Ser541Arg					PCDHB6_ENST00000543635.1_Missense_Mutation_p.S405R	p.S541R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1623	+			541			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1623C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216834	0.58452	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.54866	0.55;0.55	4.19	4.19	0.49359	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.75759	0.3893	M	0.93420	3.415	0.29907	N	0.823909	D	0.71674	0.998	D	0.78314	0.991	T	0.73658	-0.3913	9	0.72032	D	0.01	.	6.846	0.23988	0.1755:0.7348:0.0:0.0897	rs61730259	541	Q9Y5E3	PCDB6_HUMAN	R	405;541;326	ENSP00000438466:S405R;ENSP00000231136:S541R	ENSP00000231136:S541R	S	+	3	2	PCDHB6	140511645	0.003000	0.15002	1.000000	0.80357	0.941000	0.58515	0.271000	0.18626	2.047000	0.60756	0.556000	0.70494	AGC		0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		3	102	1	0	0.004672	0.004672	0.00568216	3	102				
GIP	2695	broad.mit.edu	37	17	47039134	47039134	+	Missense_Mutation	SNP	G	G	A	rs369958190		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr17:47039134G>A	ENST00000357424.2	-	4	405	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	102					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						AGCTTGACTGGCCAGCTCCAG	0.617																																						ENST00000357424.2																			0				lung(2)|skin(1)|stomach(1)	4						c.(304-306)gCc>gTc		gastric inhibitory polypeptide		G	VAL/ALA	0,4406		0,0,2203	45.0	36.0	39.0		305	3.9	0.0	17		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	GIP	NM_004123.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	102/154	47039134	1,13005	2203	4300	6503	SO:0001583	missense	2695				energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr17:47039134G>A		CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	4270	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.305C>T	17.37:g.47039134G>A	ENSP00000350005:p.Ala102Val						p.A102V	NM_004123.2	NP_004114.1	P09681	GIP_HUMAN			4	405	-			102					Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	c.305C>T	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351952	0.41700	0.0	1.16E-4	ENSG00000159224	ENST00000357424	T	0.24151	1.87	4.83	3.87	0.44632	.	0.592602	0.15809	N	0.243562	T	0.18002	0.0432	L	0.29908	0.895	0.09310	N	1	B	0.20550	0.046	B	0.14578	0.011	T	0.13737	-1.0498	10	0.42905	T	0.14	-3.7723	8.6476	0.34016	0.1028:0.0:0.8972:0.0	.	102	P09681	GIP_HUMAN	V	102	ENSP00000350005:A102V	ENSP00000350005:A102V	A	-	2	0	GIP	44394133	0.341000	0.24801	0.028000	0.17463	0.001000	0.01503	2.333000	0.43912	1.256000	0.44068	0.655000	0.94253	GCC		0.617	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364044.1	NM_004123		3	27	0	0	0	0.014758	0	3	27				
IGKV1-5	28299	broad.mit.edu	37	2	89247307	89247307	+	RNA	SNP	C	C	G	rs370277802	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:89247307C>G	ENST00000496168.1	-	0	168							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TGTGTCCTGACTGGGTCTGAC	0.562													.|||	144	0.028754	0.084	0.0144	5008	,	,		8689	0.005		0.0119	False		,,,				2504	0.0061					ENST00000496168.1																			0																				117.0	115.0	116.0					2																	89247307		1247	2546	3793			0							g.chr2:89247307C>G	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247307C>G														0	168	-									RNA	SNP	ENST00000496168.1	37																																																																																						0.562	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		4	105	0	0	0	0.029380	0	4	105				
GPRIN2	9721	broad.mit.edu	37	10	46999058	46999058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr10:46999058C>T	ENST00000374317.1	+	3	451	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GPRIN2_ENST00000374314.4_Nonsense_Mutation_p.Q60*	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	60										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACCAGACCCCAGGCCCCGGA	0.701																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(178-180)Cag>Tag		G protein regulated inducer of neurite outgrowth 2							29.0	37.0	34.0					10																	46999058		2200	4293	6493	SO:0001587	stop_gained	9721							g.chr10:46999058C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.178C>T	10.37:g.46999058C>T	ENSP00000363436:p.Gln60*					GPRIN2_ENST00000374317.1_Nonsense_Mutation_p.Q60*	p.Q60*			O60269	GRIN2_HUMAN			1	1133	+			60					Q5SVF0	Nonsense_Mutation	SNP	ENST00000374317.1	37	c.178C>T	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	40	8.441494	0.98813	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	.	.	.	5.64	1.24	0.21308	.	1.100880	0.07001	N	0.823335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-0.1473	4.7021	0.12832	0.135:0.4503:0.3315:0.0833	.	.	.	.	X	60	.	ENSP00000363433:Q60X	Q	+	1	0	GPRIN2	46419064	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.133000	0.15912	0.337000	0.23665	0.650000	0.86243	CAG		0.701	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		12	54	0	0	0	0.080935	0	12	54				
DDX27	55661	broad.mit.edu	37	20	47845343	47845343	+	Silent	SNP	C	C	T	rs200539083	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:47845343C>T	ENST00000371764.4	+	8	900	c.891C>T	c.(889-891)ccC>ccT	p.P297P	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	297	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCTAGTGCCCACCCGAGAGC	0.602																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(889-891)ccC>ccT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							81.0	82.0	82.0					20																	47845343		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47845343C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.891C>T	20.37:g.47845343C>T						DDX27_ENST00000484427.1_3'UTR	p.P297P	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	900	+			297			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.891C>T	CCDS13416.1																																																																																				0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			46	42	0	0	0	0.045515	0	46	42				
CACHD1	57685	broad.mit.edu	37	1	65113681	65113681	+	Missense_Mutation	SNP	G	G	A	rs201086698		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:65113681G>A	ENST00000371073.2	+	9	1354	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	CACHD1_ENST00000290039.5_Missense_Mutation_p.V401I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	452					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGATGAAGCCGTCTTCAGCCT	0.488																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1354-1356)Gtc>Atc		cache domain containing 1							69.0	58.0	61.0					1																	65113681		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65113681G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1354G>A	1.37:g.65113681G>A	ENSP00000360113:p.Val452Ile					CACHD1_ENST00000290039.5_Missense_Mutation_p.V401I|CACHD1_ENST00000495994.1_3'UTR	p.V452I			Q5VU97	CAHD1_HUMAN			9	1354	+			452					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1354G>A		.	.	.	.	.	.	.	.	.	.	G	10.12	1.261791	0.23051	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24151	1.87;1.88	5.38	5.38	0.77491	.	0.222920	0.47093	D	0.000253	T	0.06735	0.0172	N	0.08118	0	0.43330	D	0.995369	B	0.28208	0.203	B	0.20184	0.028	T	0.19778	-1.0295	10	0.17832	T	0.49	-27.9678	19.1392	0.93441	0.0:0.0:1.0:0.0	.	452	Q5VU97	CAHD1_HUMAN	I	452;401	ENSP00000360113:V452I;ENSP00000290039:V401I	ENSP00000290039:V401I	V	+	1	0	CACHD1	64886269	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	4.695000	0.61767	2.512000	0.84698	0.561000	0.74099	GTC		0.488	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		3	26	0	0	0	0.004672	0	3	26				
UNC79	57578	broad.mit.edu	37	14	94079271	94079271	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:94079271G>A	ENST00000393151.2	+	27	3883	c.3883G>A	c.(3883-3885)Gct>Act	p.A1295T	UNC79_ENST00000555664.1_Missense_Mutation_p.A1295T|UNC79_ENST00000553484.1_Missense_Mutation_p.A1317T|UNC79_ENST00000256339.4_Missense_Mutation_p.A1118T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1295					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAAAGCAGCGCTGAGTCAGA	0.527																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3949-3951)Gct>Act		unc-79 homolog (C. elegans)							130.0	108.0	116.0					14																	94079271		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94079271G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3883G>A	14.37:g.94079271G>A	ENSP00000376858:p.Ala1295Thr					UNC79_ENST00000256339.4_Missense_Mutation_p.A1118T|UNC79_ENST00000393151.2_Missense_Mutation_p.A1295T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1295T	p.A1317T			Q9P2D8	UNC79_HUMAN			28	4103	+			1295					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3949G>A		.	.	.	.	.	.	.	.	.	.	G	14.79	2.640753	0.47153	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18502	2.21;2.21;2.22;2.21	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.22421	0.69	0.54753	D	0.999987	D	0.89917	1.0	D	0.79108	0.992	T	0.03423	-1.1038	10	0.22706	T	0.39	-15.2766	19.5316	0.95231	0.0:0.0:1.0:0.0	.	1317	C9JQL1	.	T	1118;1295;1317;1295;1317	ENSP00000256339:A1118T;ENSP00000450868:A1295T;ENSP00000451360:A1317T;ENSP00000376858:A1295T	ENSP00000256339:A1118T	A	+	1	0	KIAA1409	93149024	1.000000	0.71417	0.702000	0.30337	0.788000	0.44548	7.863000	0.87023	2.617000	0.88574	0.650000	0.86243	GCT		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		22	38	0	0	0	0.076483	0	22	38				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	49	0	0	0	0.029380	0	6	49				
SLA	6503	broad.mit.edu	37	8	134062170	134062170	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr8:134062170T>C	ENST00000338087.5	-	5	1044	c.225A>G	c.(223-225)atA>atG	p.I75M	SLA_ENST00000427060.2_Missense_Mutation_p.I115M|SLA_ENST00000395352.3_Missense_Mutation_p.I92M|TG_ENST00000519543.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.I92M|SLA_ENST00000524345.1_De_novo_Start_InFrame	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	75	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGCCACACATATTCCAGGGA	0.448																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(223-225)atA>atG		Src-like-adaptor							146.0	122.0	130.0					8																	134062170		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134062170T>C		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.225A>G	8.37:g.134062170T>C	ENSP00000337548:p.Ile75Met					SLA_ENST00000395352.3_Missense_Mutation_p.I92M|SLA_ENST00000524345.1_De_novo_Start_InFrame|TG_ENST00000220616.4_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.I115M|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.I92M	p.I75M	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		5	1044	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	75			SH3.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.225A>G	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483787	0.44147	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341	T;T;T;D;D;T	0.92446	-1.1;-1.04;-1.04;-3.04;-3.04;1.3	5.65	-5.65	0.02459	Src homology-3 domain (3);	0.280041	0.45867	N	0.000333	T	0.80253	0.4589	N	0.19112	0.55	0.25246	N	0.989716	B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.0;0.0;0.003	B;B;B;B;B;B	0.08055	0.003;0.002;0.003;0.0;0.002;0.002	T	0.65594	-0.6130	10	0.48119	T	0.1	-10.0352	7.3237	0.26542	0.0:0.248:0.4556:0.2964	.	92;75;75;75;75;75	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	M	75;115;92;92;75;75	ENSP00000337548:I75M;ENSP00000394049:I115M;ENSP00000378759:I92M;ENSP00000428559:I92M;ENSP00000430596:I75M;ENSP00000429681:I75M	ENSP00000337548:I75M	I	-	3	3	SLA	134131352	0.971000	0.33674	0.908000	0.35775	0.940000	0.58332	-0.038000	0.12144	-0.870000	0.04047	-0.313000	0.08912	ATA		0.448	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			22	33	0	0	0	0.091800	0	22	33				
TECPR2	9895	broad.mit.edu	37	14	102901026	102901026	+	Silent	SNP	G	G	A	rs145129878		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:102901026G>A	ENST00000359520.7	+	9	2098	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	TECPR2_ENST00000558678.1_Silent_p.A624A	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	624					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTCCTGGGGCGCATGATGGGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20990	0.0		0.001	False		,,,				2504	0.0					ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1870-1872)gcG>gcA		tectonin beta-propeller repeat containing 2		G	,	0,4406		0,0,2203	71.0	51.0	57.0		1872,1872	-5.5	0.0	14	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	TECPR2	NM_001172631.1,NM_014844.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	624/1268,624/1412	102901026	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102901026G>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1872G>A	14.37:g.102901026G>A						TECPR2_ENST00000558678.1_Silent_p.A624A	p.A624A	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2098	+			624					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.1872G>A	CCDS32162.1																																																																																				0.567	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		4	35	0	0	0	0.009096	0	4	35				
TMEM38B	55151	broad.mit.edu	37	9	108510354	108510354	+	Splice_Site	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:108510354C>T	ENST00000374692.3	+	5	660	c.543C>T	c.(541-543)taC>taT	p.Y181Y	TMEM38B_ENST00000374688.1_Splice_Site_p.Y127Y	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	181						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTATTTTCAGCCCTGCCAAGG	0.363																																						ENST00000374688.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.e5-1		transmembrane protein 38B							82.0	77.0	78.0					9																	108510354		2203	4300	6503	SO:0001630	splice_region_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108510354C>T	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.543-1C>T	9.37:g.108510354C>T						TMEM38B_ENST00000374692.3_Splice_Site_p.Y181_splice	p.Y127_splice			Q9NVV0	TM38B_HUMAN			5	1091	+			181					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Splice_Site	SNP	ENST00000374692.3	37	c.380_splice	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.19|12.19	1.862475|1.862475	0.32884|0.32884	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034	.|.	.|.	.|.	5.57|5.57	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|T	0.57417|0.57417	0.2052|0.2052	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54255|0.54255	-0.8321|-0.8321	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.0:0.7759:0.0:0.2241|0.0:0.7759:0.0:0.2241	.|.	.|.	.|.	.|.	S|I	42|118	.|.	.|.	P|T	+|+	1|2	0|0	TMEM38B|TMEM38B	107550175|107550175	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.236000|0.236000	0.17967|0.17967	1.486000|1.486000	0.48398|0.48398	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.363	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112	Silent	4	58	0	0	0	0.009096	0	4	58				
POLR1B	84172	broad.mit.edu	37	2	113332659	113332661	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:113332659_113332661delCCA	ENST00000263331.5	+	15	3341_3343	c.2761_2763delCCA	c.(2761-2763)ccadel	p.P921del	POLR1B_ENST00000537335.1_In_Frame_Del_p.P710del|POLR1B_ENST00000417433.2_In_Frame_Del_p.P865del|POLR1B_ENST00000409894.3_In_Frame_Del_p.P738del|POLR1B_ENST00000541869.1_In_Frame_Del_p.P959del	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	921					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCATGGTTTTCCATCCCGCATGA	0.507																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2761-2763)del		polymerase (RNA) I polypeptide B, 128kDa																																				SO:0001651	inframe_deletion	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332659_113332661delCCA	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2761_2763delCCA	2.37:g.113332659_113332661delCCA	ENSP00000263331:p.Pro921del					POLR1B_ENST00000409894.3_In_Frame_Del_p.P738del|POLR1B_ENST00000537335.1_In_Frame_Del_p.P710del|POLR1B_ENST00000541869.1_In_Frame_Del_p.P959del|POLR1B_ENST00000417433.2_In_Frame_Del_p.P865del	p.P921del	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3341_3343	+			921					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	In_Frame_Del	DEL	ENST00000263331.5	37	c.2761_2763delCCA	CCDS2097.1																																																																																				0.507	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		40	88						40	88	---	---	---	---
TMEM8C	389827	broad.mit.edu	37	9	136379889	136379890	+	Frame_Shift_Ins	INS	-	-	G	rs17758315	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:136379889_136379890insG	ENST00000339996.3	-	5	635_636	c.534_535insC	c.(532-537)tatgtcfs	p.V179fs	TMEM8C_ENST00000413714.1_5'Flank	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	179					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AAGCTGTGGACATAAGTGTAGT	0.634																																						ENST00000339996.3																			0				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						c.(532-537)tatccafs		transmembrane protein 8C																																				SO:0001589	frameshift_variant	389827					integral to membrane		g.chr9:136379889_136379890insG	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.534_535insC	9.37:g.136379889_136379890insG	ENSP00000419712:p.Val179fs						p.P179fs	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN			5	635_636	-			179						Frame_Shift_Ins	INS	ENST00000339996.3	37	c.534_535insC	CCDS35170.1																																																																																				0.634	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		11	46						11	46	---	---	---	---
ANKLE1	126549	broad.mit.edu	37	19	17394682	17394682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:17394682delT	ENST00000394458.3	+	5	1385	c.1109delT	c.(1108-1110)ctcfs	p.L370fs	ANKLE1_ENST00000594072.1_Frame_Shift_Del_p.L359fs|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L370fs|ANKLE1_ENST00000433424.2_Frame_Shift_Del_p.L424fs|ANKLE1_ENST00000404085.1_Frame_Shift_Del_p.L392fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	370	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTGAAGGGACTCCGAGCACTT	0.577																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1108-1110)ccfs		ankyrin repeat and LEM domain containing 1							57.0	57.0	57.0					19																	17394682		2203	4300	6503	SO:0001589	frameshift_variant	126549					nuclear envelope		g.chr19:17394682delT	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1109delT	19.37:g.17394682delT	ENSP00000377971:p.Leu370fs					ANKLE1_ENST00000594072.1_Frame_Shift_Del_p.L359fs|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L370fs|ANKLE1_ENST00000433424.2_Frame_Shift_Del_p.L424fs|ANKLE1_ENST00000404085.1_Frame_Shift_Del_p.L392fs	p.L370fs	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			5	1385	+			370			LEM.		A8VU82|Q8N8J8	Frame_Shift_Del	DEL	ENST00000394458.3	37	c.1109delT	CCDS12354.2																																																																																				0.577	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		21	39						21	39	---	---	---	---
CYP2D7	1564	broad.mit.edu	37	22	42539538	42539538	+	RNA	DEL	C	C	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr22:42539538delC	ENST00000358097.4	-	0	310				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						CCACCGGCGTCCAGGCCAGCT	0.706																																					GBM(91;329 1845 13264 22235)	ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42539538delC																													22.37:g.42539538delC						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	336	-									RNA	DEL	ENST00000358097.4	37																																																																																						0.706	CYP2D7P1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000075076.3			2	4						2	4	---	---	---	---
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438																																						ENST00000424306.1																			0																																																			0							g.chrX:136030245delT																													X.37:g.136030245delT														0	2052	+									RNA	DEL	ENST00000424306.1	37																																																																																						0.438	RP11-308D16.4-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000058514.2			2	4						2	4	---	---	---	---
