#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
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	317	0	0	0	1	0	5	317				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	47	0	0	0	1	0	5	47				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	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_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|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_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	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		57	10	0	0	0	1	0	57	10				
PGBD3	267004	broad.mit.edu	37	10	50724947	50724947	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr10:50724947C>T	ENST00000374127.3	-	2	415	c.214G>A	c.(214-216)Gag>Aag	p.E72K	PGBD3_ENST00000603152.1_Missense_Mutation_p.E540K|PGBD3_ENST00000508005.2_Missense_Mutation_p.E72K|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E540K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E540K	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	72										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAGTCAGACTCAGCATCAGAG	0.453																																						ENST00000515869.1																			0											c.(1618-1620)Gag>Aag									140.0	133.0	135.0					10																	50724947		2203	4300	6503	SO:0001583	missense	101243544							g.chr10:50724947C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.214G>A	10.37:g.50724947C>T	ENSP00000363242:p.Glu72Lys					PGBD3_ENST00000508005.2_Missense_Mutation_p.E72K|PGBD3_ENST00000374127.3_Missense_Mutation_p.E72K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E540K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E540K|ERCC6_ENST00000355832.5_Intron	p.E540K	NM_001277059.1	NP_001263988.1					6	1738	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1618G>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800542	0.50315	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.16457	2.34;2.34;3.31;3.31	0.468	0.468	0.16732	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.21579	N	0.999633	B;B	0.32753	0.383;0.043	B;B	0.21708	0.036;0.007	T	0.37150	-0.9718	8	0.09590	T	0.72	-32.6777	.	.	.	.	540;72	E7EV46;Q8N328	.;PGBD3_HUMAN	K	72;72;540;540	ENSP00000363242:E72K;ENSP00000426963:E72K;ENSP00000423550:E540K;ENSP00000387966:E540K	ENSP00000387966:E540K	E	-	1	0	PGBD3;RP11-123B3.6	50394953	0.990000	0.36364	0.877000	0.34402	0.866000	0.49608	1.611000	0.36879	0.488000	0.27723	0.491000	0.48974	GAG		0.453	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			6	95	0	0	0	1	0	6	95				
MIR654	724024	broad.mit.edu	37	14	101506628	101506628	+	RNA	SNP	T	T	C	rs376452769		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr14:101506628T>C	ENST00000385199.1	+	0	73				MIR300_ENST00000401138.1_RNA|MIR1185-1_ENST00000408598.1_RNA|MIR376C_ENST00000607441.1_RNA|AL132709.2_ENST00000579587.1_RNA|MIR376A1_ENST00000584362.1_RNA	NR_030390.1				microRNA 654																		CCATCACCTTTAGAAGCCCCC	0.557																																						ENST00000385199.1																			0															T		1,3093		0,1,1546	92.0	81.0	84.0			-1.9	0.0	14		84	0,7136		0,0,3568	no	intergenic				0,1,5114	CC,CT,TT		0.0,0.0323,0.0098			101506628	1,10229	1547	3568	5115			724024							g.chr14:101506628T>C			14q32.31	2011-09-12		2008-12-18	ENSG00000207934	ENSG00000207934		"""ncRNAs / Micro RNAs"""	32910	non-coding RNA	RNA, micro				MIRN654			Standard	NR_030390		Approved	hsa-mir-654	uc021sda.1				14.37:g.101506628T>C								NR_030390.1						0	73	+									RNA	SNP	ENST00000385199.1	37																																																																																						0.557	MIR654-201	KNOWN	basic	miRNA	miRNA		NR_030390		6	10	0	0	0	1	0	6	10				
WASH3P	374666	broad.mit.edu	37	15	102516511	102516511	+	RNA	SNP	C	C	T	rs28450830		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr15:102516511C>T	ENST00000557932.1	+	0	1459				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGACTTGGGCCGTTGCTCTGA	0.627																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516511C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516511C>T														0	1459	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.627	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	56	0	0	0	1	0	4	56				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	106	0	0	0	1	0	4	106				
ABCA13	154664	broad.mit.edu	37	7	48314803	48314803	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:48314803T>G	ENST00000435803.1	+	17	5564	c.5540T>G	c.(5539-5541)aTg>aGg	p.M1847R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1847					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATGGGCTCATGTCTTCTTCC	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5539-5541)aTg>aGg		ATP-binding cassette, sub-family A (ABC1), member 13							61.0	60.0	60.0					7																	48314803		1883	4112	5995	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314803T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5540T>G	7.37:g.48314803T>G	ENSP00000411096:p.Met1847Arg						p.M1847R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5564	+			1847					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5540T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	4.825	0.153456	0.09185	.	.	ENSG00000179869	ENST00000435803	T	0.15017	2.46	5.65	0.223	0.15292	.	2.354250	0.01931	N	0.041250	T	0.12475	0.0303	L	0.34521	1.04	0.09310	N	1	P	0.35363	0.497	B	0.28553	0.091	T	0.21552	-1.0242	9	.	.	.	.	6.0895	0.19987	0.0:0.1873:0.3887:0.4239	.	1847	Q86UQ4	ABCAD_HUMAN	R	1847	ENSP00000411096:M1847R	.	M	+	2	0	ABCA13	48285349	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.434000	0.06939	0.075000	0.16796	0.377000	0.23210	ATG		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	20	0	0	0	1	0	15	20				
DDC	1644	broad.mit.edu	37	7	50595871	50595871	+	Silent	SNP	C	C	T			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:50595871C>T	ENST00000444124.2	-	6	878	c.678G>A	c.(676-678)ctG>ctA	p.L226L	DDC_ENST00000380984.4_Silent_p.L226L|DDC_ENST00000426377.1_Silent_p.L148L|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.L226L	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	226					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TGTCTCTCTCCAGGGCTTCCT	0.512																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(676-678)ctG>ctA		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						78.0	76.0	77.0					7																	50595871		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595871C>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.678G>A	7.37:g.50595871C>T						DDC_ENST00000380984.4_Silent_p.L226L|DDC_ENST00000431062.1_Intron|DDC_ENST00000426377.1_Silent_p.L148L|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.L226L	p.L226L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			6	878	-	Glioma(55;0.08)|all_neural(89;0.245)		226					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.678G>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	7.647	0.682075	0.14907	.	.	ENSG00000132437	ENST00000430300	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5574	9.4013	0.38435	0.0:0.8494:0.0:0.1506	.	.	.	.	X	107	.	.	W	-	2	0	DDC	50563365	1.000000	0.71417	0.974000	0.42286	0.625000	0.37756	1.565000	0.36386	2.879000	0.98667	0.650000	0.86243	TGG		0.512	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			12	53	0	0	0	1	0	12	53				
ZNF862	643641	broad.mit.edu	37	7	149545325	149545325	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:149545325T>C	ENST00000223210.4	+	4	988	c.743T>C	c.(742-744)cTg>cCg	p.L248P		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCAGGGCCTCTGGGAGGATTT	0.582																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(742-744)cTg>cCg		zinc finger protein 862							19.0	21.0	20.0					7																	149545325		1842	4096	5938	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545325T>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.743T>C	7.37:g.149545325T>C	ENSP00000223210:p.Leu248Pro						p.L248P	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			4	988	+			248					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.743T>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702466	0.48307	.	.	ENSG00000106479	ENST00000223210	T	0.02121	4.44	4.68	3.52	0.40303	.	0.000000	0.36066	N	0.002810	T	0.03827	0.0108	L	0.32530	0.975	0.51233	D	0.999914	D	0.54601	0.967	P	0.52909	0.713	T	0.52260	-0.8599	10	0.87932	D	0	-18.8686	7.598	0.28058	0.1885:0.0:0.0:0.8115	.	248	O60290	ZN862_HUMAN	P	248	ENSP00000223210:L248P	ENSP00000223210:L248P	L	+	2	0	ZNF862	149176258	0.994000	0.37717	0.997000	0.53966	0.616000	0.37450	1.579000	0.36536	0.817000	0.34445	0.533000	0.62120	CTG		0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		12	10	0	0	0	1	0	12	10				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			653440							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	15	0	0	0	1	0	3	15				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			554236							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	54	0	0	0	1	0	3	54				
DNM1P47	100216544	broad.mit.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694									DNM1 pseudogene 47																		TTCTCAGAGCTGCTGTCCAAC	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294648T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294648T>C														0	2694	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	39	0	0	0	1	0	3	39				
DNM1P47	100216544	broad.mit.edu	37	15	102294651	102294651	+	RNA	SNP	T	T	G			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr15:102294651T>G	ENST00000561463.1	+	0	2697									DNM1 pseudogene 47																		TCAGAGCTGCTGTCCAACCTG	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294651T>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294651T>G														0	2697	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	37	0	0	0	1	0	3	37				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	50	0	0	0	1	0	4	50				
SLC13A4	26266	broad.mit.edu	37	7	135370341	135370341	+	Missense_Mutation	SNP	C	C	T	rs372605570		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:135370341C>T	ENST00000354042.4	-	14	2223	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	512					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACAATGGACACGAGGATGCAT	0.567																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1534-1536)Gtg>Atg		solute carrier family 13 (sodium/sulfate symporter), member 4		C	MET/VAL	0,4406		0,0,2203	201.0	173.0	182.0		1534	6.0	1.0	7		182	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC13A4	NM_012450.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	512/627	135370341	1,13005	2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135370341C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1534G>A	7.37:g.135370341C>T	ENSP00000297282:p.Val512Met					C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	p.V512M	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			14	2223	-			512					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1534G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005035	0.93287	0.0	1.16E-4	ENSG00000164707	ENST00000354042	T	0.03468	3.92	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00002	-1.2620	10	0.87932	D	0	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	381;512	Q59HF0;Q9UKG4	.;S13A4_HUMAN	M	512	ENSP00000297282:V512M	ENSP00000297282:V512M	V	-	1	0	SLC13A4	135020881	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.027000	0.70881	2.861000	0.98227	0.655000	0.94253	GTG		0.567	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		48	71	0	0	0	1	0	48	71				
ECE1	1889	broad.mit.edu	37	1	21573845	21573845	+	Silent	SNP	G	G	A			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr1:21573845G>A	ENST00000374893.6	-	9	1106	c.1032C>T	c.(1030-1032)ccC>ccT	p.P344P	ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000357071.4_Silent_p.P332P|ECE1_ENST00000415912.2_Silent_p.P328P|ECE1_ENST00000436918.2_Silent_p.P344P|ECE1_ENST00000264205.6_Silent_p.P341P	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	344					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTTGATGGCGGGTGCCAAGG	0.537																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(982-984)ccC>ccT		endothelin converting enzyme 1							134.0	126.0	129.0					1																	21573845		2203	4300	6503	SO:0001819	synonymous_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21573845G>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1032C>T	1.37:g.21573845G>A						ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Silent_p.P344P|ECE1_ENST00000374893.6_Silent_p.P344P|ECE1_ENST00000357071.4_Silent_p.P332P|ECE1_ENST00000264205.6_Silent_p.P341P	p.P328P	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	9	1109	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	344					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	c.984C>T	CCDS215.1																																																																																				0.537	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		3	30	0	0	0	1	0	3	30				
NPIPB5	100132247	broad.mit.edu	37	16	22546262	22546262	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr16:22546262C>T	ENST00000517539.1	+	8	2033	c.1958C>T	c.(1957-1959)cCg>cTg	p.P653L	NPIPB5_ENST00000424340.1_Missense_Mutation_p.P653L|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	653	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGC	0.582																																						ENST00000424340.1																			0											c.(1957-1959)cCg>cTg		nuclear pore complex interacting protein family, member B5							3.0	4.0	4.0					16																	22546262		622	1441	2063	SO:0001583	missense	100132247							g.chr16:22546262C>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1958C>T	16.37:g.22546262C>T	ENSP00000430633:p.Pro653Leu					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.P653L	p.P653L	NM_001135865.1	NP_001129337.1					7	2237	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1958C>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.131841	0.00338	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.23348	1.91;1.91	.	.	.	.	.	.	.	.	T	0.14570	0.0352	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.34104	-0.9842	4	0.21014	T	0.42	.	.	.	.	.	646;653	F5GWX0;A8MRT5	.;K220L_HUMAN	L	653;646;410;531;653	ENSP00000440703:P653L;ENSP00000430633:P653L	ENSP00000441680:P646L	P	+	2	0	RP11-368J21.2	22453763	0.031000	0.19500	.	.	.	.	0.064000	0.14437	.	.	.	.	CCG		0.582	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		4	117	0	0	0	1	0	4	117				
WISP1	8840	broad.mit.edu	37	8	134232871	134232871	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr8:134232871G>A	ENST00000250160.6	+	3	503	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	133	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTACAACAACGGCCAGTCCTT	0.667																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(397-399)Ggc>Agc		WNT1 inducible signaling pathway protein 1							97.0	81.0	87.0					8																	134232871		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232871G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.397G>A	8.37:g.134232871G>A	ENSP00000250160:p.Gly133Ser					WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron	p.G133S	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	503	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		133			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.397G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934765	0.92458	.	.	ENSG00000104415	ENST00000250160	T	0.73575	-0.76	4.63	4.63	0.57726	von Willebrand factor, type C (3);	0.052098	0.85682	D	0.000000	D	0.88005	0.6321	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.91002	0.4843	10	0.87932	D	0	-8.8846	16.4485	0.83972	0.0:0.0:1.0:0.0	.	133	O95388	WISP1_HUMAN	S	133	ENSP00000250160:G133S	ENSP00000250160:G133S	G	+	1	0	WISP1	134302053	1.000000	0.71417	0.931000	0.37212	0.743000	0.42351	9.612000	0.98347	2.127000	0.65507	0.460000	0.39030	GGC		0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		27	43	0	0	0	1	0	27	43				
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516473G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516473G>A														0	1421	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		7	88	0	0	0	1	0	7	88				
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		9	689						9	689	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711																																						ENST00000378016.2																			0													SCO-spondin				326,3200		64,198,1501	4.0	5.0	5.0			3.0	1.0	7	dbSNP_120	5	1295,6157		261,773,2692	no	frameshift	SSPO	NM_198455.2		325,971,4193	A1A1,A1R,RR		17.3779,9.2456,14.7659			149518533	1621,9357	1809	3718	5527			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518533delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518533delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12602	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	6						3	6	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50534970	50534977	+	3'UTR	DEL	ACACACAC	ACACACAC	-	rs72337199		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr10:50534970_50534977delACACACAC	ENST00000374144.3	+	0	4668_4675				C10orf71_ENST00000323868.4_Splice_Site_p.T693fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.?(1)		endometrium(1)	1						AAAACAAGCAacacacacacacacacac	0.505																																						ENST00000323868.4																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)	1						c.e4-1		chromosome 10 open reading frame 71																																				SO:0001624	3_prime_UTR_variant	118461							g.chr10:50534970_50534977delACACACAC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*79ACACACAC>-	10.37:g.50534978_50534985delACACACAC						C10orf71_ENST00000374144.3_3'UTR	p.692_splice	NM_001135196.1	NP_001128668.1	Q711Q0	CJ071_HUMAN			4	2413_2415	+			692					A0AVL8	Splice_Site	DEL	ENST00000374144.3	37	c.2074_splice	CCDS44387.1																																																																																				0.505	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		4	2						4	2	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411																																						ENST00000590606.1																			0																																																			0							g.chr19:20243404_20243405delAC																													19.37:g.20243414_20243415delAC						CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA								0	188	-									RNA	DEL	ENST00000590606.1	37																																																																																						0.411	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			10	113						10	113	---	---	---	---
