#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
SCN9A	6335	broad.mit.edu	37	2	167055182	167055182	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:167055182C>G	ENST00000409435.1	-	26	5966	c.5967G>C	c.(5965-5967)taG>taC	p.*1989Y	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Nonstop_Mutation_p.*1990Y|SCN9A_ENST00000303354.6_Nonstop_Mutation_p.*1990Y|SCN9A_ENST00000409672.1_Nonstop_Mutation_p.*1978Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	0					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAATGAAGCTCTATTTTTTGC	0.318																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5968-5970)taG>taC		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						103.0	93.0	97.0					2																	167055182		1858	4096	5954	SO:0001578	stop_lost	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055182C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5967G>C	2.37:g.167055182C>G						AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonstop_Mutation_p.*1978Y|SCN9A_ENST00000409435.1_Nonstop_Mutation_p.*1989Y|SCN9A_ENST00000303354.6_Nonstop_Mutation_p.*1990Y	p.*1990Y			Q15858	SCN9A_HUMAN			27	6310	-			0					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonstop_Mutation	SNP	ENST00000409435.1	37	c.5970G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269100	0.40095	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.86	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3472	0.04274	0.2234:0.4215:0.0:0.3551	.	.	.	.	Y	1978;1990;1990;1989	.	.	X	-	3	2	SCN9A	166763428	0.000000	0.05858	0.979000	0.43373	0.354000	0.29330	-0.570000	0.05895	1.420000	0.47138	0.591000	0.81541	TAG		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		11	17	0	0	0	0.069234	0	11	17				
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	141	Substitution - Missense(141)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)cAa>cGa		Kirsten rat sarcoma viral oncogene homolog							109.0	97.0	101.0					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380276T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>G	12.37:g.25380276T>C	ENSP00000256078:p.Gln61Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	373	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.182A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		34	76	0	0	0	0.074837	0	34	76				
RPUSD1	113000	broad.mit.edu	37	16	837367	837367	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:837367G>A	ENST00000561734.1	-	2	536	c.293C>T	c.(292-294)gCt>gTt	p.A98V	RPUSD1_ENST00000565809.1_Missense_Mutation_p.A98V|RPUSD1_ENST00000007264.2_Missense_Mutation_p.A98V|RPUSD1_ENST00000567114.1_5'UTR|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	98					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCAGGTAAGCCTTGGTCAC	0.657																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(292-294)gCt>gTt		RNA pseudouridylate synthase domain containing 1							25.0	22.0	23.0					16																	837367		2175	4286	6461	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837367G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.293C>T	16.37:g.837367G>A	ENSP00000455026:p.Ala98Val					RPUSD1_ENST00000007264.2_Missense_Mutation_p.A98V|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000565809.1_Missense_Mutation_p.A98V	p.A98V			Q9UJJ7	RUSD1_HUMAN			2	536	-		Hepatocellular(780;0.00335)	98					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.293C>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086312	0.36855	.	.	ENSG00000007376	ENST00000007264	T	0.13420	2.59	4.38	3.43	0.39272	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.053327	0.85682	N	0.000000	T	0.10121	0.0248	N	0.13098	0.295	0.80722	D	1	P	0.45986	0.87	P	0.45753	0.492	T	0.22452	-1.0216	10	0.32370	T	0.25	-10.0552	11.006	0.47635	0.0927:0.0:0.9073:0.0	.	98	Q9UJJ7	RUSD1_HUMAN	V	98	ENSP00000007264:A98V	ENSP00000007264:A98V	A	-	2	0	RPUSD1	777368	1.000000	0.71417	0.964000	0.40570	0.910000	0.53928	6.426000	0.73374	1.073000	0.40885	0.542000	0.68232	GCT		0.657	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		8	14	0	0	0	0.047766	0	8	14				
ADM	133	broad.mit.edu	37	11	10327267	10327267	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:10327267C>T	ENST00000528655.1	+	1	637	c.20C>T	c.(19-21)gCc>gTc	p.A7V	ADM_ENST00000528544.1_Missense_Mutation_p.A7V|ADM_ENST00000524948.1_Missense_Mutation_p.A7V|ADM_ENST00000525063.1_Missense_Mutation_p.A7V|ADM_ENST00000278175.5_Missense_Mutation_p.A7V|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000526492.1_Missense_Mutation_p.A7V|ADM_ENST00000534464.1_5'UTR|RP11-351I24.1_ENST00000526906.1_RNA			P35318	ADML_HUMAN	adrenomedullin	7					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GTTTCCGTCGCCCTGATGTAC	0.642																																						ENST00000528655.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(19-21)gCc>gTc		adrenomedullin							90.0	83.0	85.0					11																	10327267		2201	4294	6495	SO:0001583	missense	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327267C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.20C>T	11.37:g.10327267C>T	ENSP00000436607:p.Ala7Val					ADM_ENST00000526492.1_Missense_Mutation_p.A7V|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000278175.5_Missense_Mutation_p.A7V|ADM_ENST00000528544.1_Missense_Mutation_p.A7V|ADM_ENST00000524948.1_Missense_Mutation_p.A7V|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000525063.1_Missense_Mutation_p.A7V	p.A7V			P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	1	637	+			7					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.20C>T	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424423	0.62733	.	.	ENSG00000148926	ENST00000278175;ENST00000524948;ENST00000528655;ENST00000526492;ENST00000525063;ENST00000528544	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	4.84	3.93	0.45458	.	0.524000	0.23261	N	0.050137	T	0.24084	0.0583	L	0.46157	1.445	0.30002	N	0.815911	B	0.25772	0.134	B	0.27262	0.078	T	0.16928	-1.0386	10	0.56958	D	0.05	-11.4712	10.8424	0.46724	0.0:0.9122:0.0:0.0878	.	7	P35318	ADML_HUMAN	V	7	ENSP00000278175:A7V;ENSP00000433062:A7V;ENSP00000436607:A7V;ENSP00000434354:A7V;ENSP00000435124:A7V;ENSP00000434749:A7V	ENSP00000278175:A7V	A	+	2	0	ADM	10283843	1.000000	0.71417	0.972000	0.41901	0.900000	0.52787	2.684000	0.46951	1.262000	0.44165	0.561000	0.74099	GCC		0.642	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		43	56	0	0	0	0.111260	0	43	56				
ABCF1	23	broad.mit.edu	37	6	30553911	30553911	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:30553911G>C	ENST00000326195.8	+	18	1826	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Splice_Site_p.E534Q	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	572					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCTCTCCAGGAAAAACAAAC	0.552																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.e18-1		ATP-binding cassette, sub-family F (GCN20), member 1							39.0	43.0	42.0					6																	30553911		2202	4298	6500	SO:0001630	splice_region_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553911G>C	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1714-1G>C	6.37:g.30553911G>C						ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Splice_Site_p.E534_splice	p.E572_splice	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			18	1826	+			572					A2BF75|O14897|Q69YP6	Splice_Site	SNP	ENST00000326195.8	37	c.1713_splice	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964376	0.53507	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	T;T	0.40225	1.55;1.04	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.82193	2.58	0.80722	D	1	P;P	0.42871	0.792;0.624	P;B	0.46419	0.516;0.3	T	0.51911	-0.8645	9	.	.	.	-12.3944	16.3085	0.82859	0.0:0.0:1.0:0.0	.	534;572	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	Q	572;534	ENSP00000313603:E572Q;ENSP00000365728:E534Q	.	E	+	1	0	ABCF1	30661890	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	7.995000	0.88328	2.385000	0.81259	0.555000	0.69702	GAA		0.552	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		Missense_Mutation	29	40	0	0	0	0.108266	0	29	40				
PTGES	9536	broad.mit.edu	37	9	132511009	132511009	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:132511009G>A	ENST00000340607.4	-	2	168	c.134C>T	c.(133-135)gCc>gTc	p.A45V	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	45					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCGGGGTTGGCAAAGGCCTG	0.592																																						ENST00000340607.4																			0				lung(1)|skin(1)	2						c.(133-135)gCc>gTc		prostaglandin E synthase							49.0	40.0	43.0					9																	132511009		2203	4300	6503	SO:0001583	missense	9536				prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity	g.chr9:132511009G>A	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.134C>T	9.37:g.132511009G>A	ENSP00000342385:p.Ala45Val					PTGES_ENST00000481476.1_5'UTR	p.A45V	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN			2	168	-		Ovarian(14;0.00556)	45					O14900|Q5SZC0	Missense_Mutation	SNP	ENST00000340607.4	37	c.134C>T	CCDS6927.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156301	0.78114	.	.	ENSG00000148344	ENST00000340607	T	0.58652	0.32	6.08	6.08	0.98989	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.050231	0.85682	D	0.000000	T	0.74861	0.3772	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.75004	-0.3470	10	0.87932	D	0	-23.388	19.6516	0.95815	0.0:0.0:1.0:0.0	.	45	O14684	PTGES_HUMAN	V	45	ENSP00000342385:A45V	ENSP00000342385:A45V	A	-	2	0	PTGES	131550830	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.110000	0.94302	2.894000	0.99253	0.655000	0.94253	GCC		0.592	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		3	51	0	0	0	0.115264	0	3	51				
COL3A1	1281	broad.mit.edu	37	2	189853339	189853339	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:189853339C>A	ENST00000304636.3	+	7	776	c.606C>A	c.(604-606)ccC>ccA	p.P202P	COL3A1_ENST00000317840.5_Silent_p.P202P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	202	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACCAAGGACCCCCTGGTGAAC	0.328																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(604-606)ccC>ccA		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						34.0	39.0	37.0					2																	189853339		2201	4296	6497	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189853339C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.606C>A	2.37:g.189853339C>A						COL3A1_ENST00000317840.5_Silent_p.P202P	p.P202P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		7	776	+			202			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.606C>A	CCDS2297.1																																																																																				0.328	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		3	84	1	0	0.150653	0.150653	0.155361	3	84				
ATP2A2	488	broad.mit.edu	37	12	110771021	110771021	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:110771021A>G	ENST00000539276.2	+	10	1329	c.1220A>G	c.(1219-1221)tAt>tGt	p.Y407C	ATP2A2_ENST00000308664.6_Missense_Mutation_p.Y407C|ATP2A2_ENST00000395494.2_Missense_Mutation_p.Y380C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	407					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGTCACCAGTATGATGGTCTG	0.423																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38	GRCh37	CD991621	ATP2A2	D		c.(1138-1140)tAt>tGt		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							241.0	222.0	228.0					12																	110771021		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110771021A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1220A>G	12.37:g.110771021A>G	ENSP00000440045:p.Tyr407Cys					ATP2A2_ENST00000308664.6_Missense_Mutation_p.Y407C|ATP2A2_ENST00000539276.2_Missense_Mutation_p.Y407C	p.Y380C			P16615	AT2A2_HUMAN			9	1702	+			407			Interacts with phospholamban 1 (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1139A>G	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057843	0.76074	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.82803	-1.65;-1.65;-1.65	5.98	5.98	0.97165	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	0.394769	0.31450	N	0.007631	D	0.87577	0.6212	M	0.66506	2.035	0.53005	D	0.999963	D;D;D	0.56521	0.97;0.97;0.976	P;P;P	0.54856	0.649;0.649;0.762	D	0.87013	0.2124	10	0.40728	T	0.16	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	380;407;407	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	C	407;380;407	ENSP00000311186:Y407C;ENSP00000378872:Y380C;ENSP00000440045:Y407C	ENSP00000311186:Y407C	Y	+	2	0	ATP2A2	109255404	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	6.164000	0.71885	2.289000	0.77006	0.482000	0.46254	TAT		0.423	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		81	126	0	0	0	0.139131	0	81	126				
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:124887093C>T	ENST00000405201.1	-	14	1497	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000356219.3_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1495-1497)caG>caA		nuclear receptor corepressor 2							9.0	10.0	10.0					12																	124887093		2051	4183	6234	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1497G>A	12.37:g.124887093C>T						NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q	p.Q499Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1497G>A	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		2	3	0	0	0	0.115264	0	2	3				
KMT2A	4297	broad.mit.edu	37	11	118343146	118343146	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:118343146C>T	ENST00000389506.5	+	3	1272	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KMT2A_ENST00000354520.4_Silent_p.T424T|KMT2A_ENST00000534358.1_Silent_p.T424T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	424					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCATTAAGACCCCTCGGCGGT	0.473																																						ENST00000534358.1																			0											c.(1270-1272)acC>acT		lysine (K)-specific methyltransferase 2A							99.0	108.0	105.0					11																	118343146		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118343146C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1272C>T	11.37:g.118343146C>T						KMT2A_ENST00000389506.5_Silent_p.T424T|KMT2A_ENST00000354520.4_Silent_p.T424T	p.T424T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1295	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.1272C>T	CCDS31686.1																																																																																				0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	193	0	0	0	0.014758	0	4	193				
ADAMTS18	170692	broad.mit.edu	37	16	77354989	77354989	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:77354989C>T	ENST00000282849.5	-	15	2692	c.2274G>A	c.(2272-2274)caG>caA	p.Q758Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	758	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGCTTTATGCTGGTTGAGGT	0.403																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2272-2274)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 18							127.0	125.0	126.0					16																	77354989		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77354989C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2274G>A	16.37:g.77354989C>T							p.Q758Q	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			15	2692	-			758			Spacer.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.2274G>A	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			5	203	0	0	0	0.014758	0	5	203				
HLA-DMA	3108	broad.mit.edu	37	6	32917464	32917464	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:32917464G>A	ENST00000374843.4	-	3	661	c.576C>T	c.(574-576)ttC>ttT	p.F192F	HLA-DMA_ENST00000395303.3_Silent_p.F158F|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Silent_p.F97F|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	192	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						GTTCTGGTGTGAAGTTTAAGT	0.478																																						ENST00000374843.4																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(574-576)ttC>ttT		major histocompatibility complex, class II, DM alpha							77.0	74.0	75.0					6																	32917464		1510	2709	4219	SO:0001819	synonymous_variant	3108					integral to membrane|MHC class II protein complex		g.chr6:32917464G>A		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.576C>T	6.37:g.32917464G>A						HLA-DMA_ENST00000395303.3_Silent_p.F158F|HLA-DMA_ENST00000395305.3_Silent_p.F97F|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron	p.F192F	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			3	661	-			192					Q29639|Q29640	Silent	SNP	ENST00000374843.4	37	c.576C>T	CCDS4761.1																																																																																				0.478	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		4	102	0	0	0	0.150653	0	4	102				
KIAA0895L	653319	broad.mit.edu	37	16	67213988	67213988	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:67213988C>T	ENST00000290881.7	-	3	1452	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.V176M|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V176M			Q68EN5	K895L_HUMAN	KIAA0895-like	176								p.V176L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTTTCCAGCACAGCCGTGGGC	0.582																																						ENST00000290881.7																			1	Substitution - Missense(1)	p.V176L(1)	endometrium(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(526-528)Gtg>Atg		KIAA0895-like							97.0	102.0	100.0					16																	67213988		2011	4176	6187	SO:0001583	missense	653319							g.chr16:67213988C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.526G>A	16.37:g.67213988C>T	ENSP00000290881:p.Val176Met					KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V176M|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.V176M	p.V176M			Q68EN5	K895L_HUMAN			3	1452	-			176					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.526G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628718	0.87560	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	4.92	0.64577	.	0.120392	0.56097	D	0.000038	T	0.75547	0.3864	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.72338	0.977;0.812	T	0.74847	-0.3525	9	0.41790	T	0.15	-25.3349	15.6593	0.77169	0.0:1.0:0.0:0.0	.	176;176	Q68EN5-2;Q68EN5	.;K895L_HUMAN	M	176	.	ENSP00000290881:V176M	V	-	1	0	KIAA0895L	65771489	1.000000	0.71417	0.971000	0.41717	0.892000	0.51952	6.957000	0.76019	2.544000	0.85801	0.555000	0.69702	GTG		0.582	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		36	88	0	0	0	0.064281	0	36	88				
SLA	6503	broad.mit.edu	37	8	134050906	134050906	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:134050906T>G	ENST00000338087.5	-	9	1513	c.694A>C	c.(694-696)Agc>Cgc	p.S232R	TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.S205R|SLA_ENST00000395352.3_Missense_Mutation_p.S249R|SLA_ENST00000524345.1_Missense_Mutation_p.S124R|SLA_ENST00000427060.2_Missense_Mutation_p.S272R|TG_ENST00000542445.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	232	SLA C-terminal.				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)			GAGGCAATGCTCTCTCGAAGG	0.532																																						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.(694-696)Agc>Cgc		Src-like-adaptor							158.0	136.0	144.0					8																	134050906		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050906T>G		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.694A>C	8.37:g.134050906T>G	ENSP00000337548:p.Ser232Arg					SLA_ENST00000517648.1_Missense_Mutation_p.S205R|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S272R|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S249R|SLA_ENST00000524345.1_Missense_Mutation_p.S124R	p.S232R	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1513	-	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)	232			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.694A>C	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047933	0.93740	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	D;D;D;T;T	0.82344	-1.6;-1.59;-1.58;0.68;1.79	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91640	0.5326	10	0.87932	D	0	-38.6487	15.2091	0.73206	0.0:0.0:0.0:1.0	.	205;232;232;232	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	R	232;272;249;124;205	ENSP00000337548:S232R;ENSP00000394049:S272R;ENSP00000378759:S249R;ENSP00000427928:S124R;ENSP00000428559:S205R	ENSP00000337548:S232R	S	-	1	0	SLA	134120088	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	6.310000	0.72830	2.263000	0.75096	0.533000	0.62120	AGC		0.532	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			7	99	0	0	0	0.139131	0	7	99				
VASH1	22846	broad.mit.edu	37	14	77239567	77239567	+	Intron	SNP	A	A	G	rs2075772	byFrequency	TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr14:77239567A>G	ENST00000167106.4	+	4	1163				VASH1_ENST00000554237.1_Silent_p.S181S|VASH1_ENST00000556038.1_Intron|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1						angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.S181S(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ATCCTTCCTCACCTGAAGGGG	0.582													G|||	1965	0.392372	0.3903	0.3991	5008	,	,		17397	0.244		0.4394	False		,,,				2504	0.4949					ENST00000554237.1																			1	Substitution - coding silent(1)	p.S181S(1)	stomach(1)	breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10						c.(541-543)tcA>tcG		vasohibin 1		G		1797,2609	638.3+/-396.9	344,1109,750	55.0	52.0	53.0			0.2	0.0	14	dbSNP_96	53	3871,4729	606.4+/-395.1	878,2115,1307	no	intron	VASH1	NM_014909.4		1222,3224,2057	GG,GA,AA		45.0116,40.7853,43.5799			77239567	5668,7338	2203	4300	6503	SO:0001627	intron_variant	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77239567A>G	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.530+13A>G	14.37:g.77239567A>G						VASH1_ENST00000556038.1_Intron|VASH1_ENST00000167106.4_Intron	p.S181S			Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	4	1036	+			0					Q96H02|Q9UBF4|Q9Y629	Silent	SNP	ENST00000167106.4	37	c.543A>G	CCDS9851.1																																																																																				0.582	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		4	73	0	0	0	0.014758	0	4	73				
MFAP3L	9848	broad.mit.edu	37	4	170913279	170913279	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr4:170913279G>A	ENST00000361618.3	-	3	787	c.480C>T	c.(478-480)gcC>gcT	p.A160A	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.A57A	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CGATGGTGAAGGCCACCAGGC	0.512																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(478-480)gcC>gcT		microfibrillar-associated protein 3-like							142.0	127.0	132.0					4																	170913279		2203	4300	6503	SO:0001819	synonymous_variant	9848					integral to membrane|plasma membrane		g.chr4:170913279G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.480C>T	4.37:g.170913279G>A						RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.A57A	p.A160A	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	787	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	160					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	c.480C>T	CCDS34103.1																																																																																				0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		7	159	0	0	0	0.038147	0	7	159				
ANKRD42	338699	broad.mit.edu	37	11	82959006	82959006	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:82959006C>T	ENST00000393392.2	+	10	1295	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Silent_p.G448G|ANKRD42_ENST00000260047.6_Silent_p.G447G|ANKRD42_ENST00000531895.1_Silent_p.G448G	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	378					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTGCAGGGCCAGCTGGAGT	0.343																																						ENST00000393392.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1132-1134)gCc>gTc		ankyrin repeat domain 42							81.0	82.0	82.0					11																	82959006		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82959006C>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.1133C>T	11.37:g.82959006C>T	ENSP00000377051:p.Ala378Val					ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Silent_p.G448G|ANKRD42_ENST00000531895.1_Silent_p.G448G|ANKRD42_ENST00000260047.6_Silent_p.G447G	p.A378V	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN			10	1295	+			378					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.1133C>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419860	0.42918	.	.	ENSG00000137494	ENST00000393392	T	0.67345	-0.26	5.46	1.35	0.21983	.	4.375660	0.00166	N	0.000014	T	0.46833	0.1413	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23013	-1.0200	9	.	.	.	-0.0387	7.4647	0.27314	0.0:0.614:0.2357:0.1503	.	378	Q8N9B4	ANR42_HUMAN	V	378	ENSP00000377051:A378V	.	A	+	2	0	ANKRD42	82636654	0.792000	0.28813	0.270000	0.24601	0.955000	0.61496	1.232000	0.32636	0.056000	0.16144	0.561000	0.74099	GCC		0.343	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		3	38	0	0	0	0.150653	0	3	38				
SPATS2	65244	broad.mit.edu	37	12	49890689	49890689	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:49890689A>G	ENST00000553127.1	+	9	1113	c.600A>G	c.(598-600)caA>caG	p.Q200Q	SPATS2_ENST00000321898.6_Silent_p.Q200Q|SPATS2_ENST00000552918.1_Silent_p.Q200Q|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	200						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACAATTCTCAACAACCCAGGA	0.438																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(598-600)caA>caG		spermatogenesis associated, serine-rich 2							130.0	120.0	124.0					12																	49890689		2203	4300	6503	SO:0001819	synonymous_variant	65244					cytoplasm		g.chr12:49890689A>G	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.600A>G	12.37:g.49890689A>G						SPATS2_ENST00000321898.6_Silent_p.Q200Q|SPATS2_ENST00000552918.1_Silent_p.Q200Q|SPATS2_ENST00000552557.1_3'UTR	p.Q200Q			Q86XZ4	SPAS2_HUMAN			9	1113	+			200					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	c.600A>G	CCDS31794.1																																																																																				0.438	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		69	94	0	0	0	0.139131	0	69	94				
CROCCP2	84809	broad.mit.edu	37	1	16945358	16945358	+	lincRNA	SNP	G	G	C	rs945905	byFrequency	TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr1:16945358G>C	ENST00000412962.1	-	0	2161				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGTAGGAGAAGAGAGAGGAAG	0.567																																						ENST00000412962.1																			0																																																			0							g.chr1:16945358G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945358G>C														0	2161	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.567	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	40	0	0	0	0.014758	0	5	40				
ABCB7	22	broad.mit.edu	37	X	74332769	74332769	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chrX:74332769A>G	ENST00000373394.3	-	3	292	c.285T>C	c.(283-285)tgT>tgC	p.C95C	ABCB7_ENST00000339447.4_Silent_p.C95C|ABCB7_ENST00000253577.3_Silent_p.C96C			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	95					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GACCATGCCAACATGTCCTCT	0.438																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(286-288)tgT>tgC		ATP-binding cassette, sub-family B (MDR/TAP), member 7							206.0	157.0	173.0					X																	74332769		2203	4300	6503	SO:0001819	synonymous_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74332769A>G	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.285T>C	X.37:g.74332769A>G						ABCB7_ENST00000373394.3_Silent_p.C95C|ABCB7_ENST00000339447.4_Silent_p.C95C	p.C96C	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			3	312	-			95					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37	c.288T>C																																																																																					0.438	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		9	244	0	0	0	0.069234	0	9	244				
APOBEC3G	60489	broad.mit.edu	37	22	39475061	39475061	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr22:39475061C>A	ENST00000407997.3	+	2	499	c.142C>A	c.(142-144)Cct>Act	p.P48T	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.P48T	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	48	Essential for cytoplasmic localization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTCAAGGCCCCCTTTGGACGC	0.507																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(142-144)Cct>Act		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							73.0	65.0	68.0					22																	39475061		2203	4300	6503	SO:0001583	missense	60489							g.chr22:39475061C>A	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.142C>A	22.37:g.39475061C>A	ENSP00000385057:p.Pro48Thr					APOBEC3G_ENST00000452957.2_Missense_Mutation_p.P48T|APOBEC3G_ENST00000461827.1_3'UTR	p.P48T	NM_021822.3	NP_068594.1					2	499	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.142C>A	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	0.507	-0.868181	0.02590	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.62941	-0.01;-0.01	1.54	-3.08	0.05347	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.39091	0.1065	N	0.17800	0.525	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.5472	0.22412	0.0:0.3312:0.0:0.6688	.	48	Q9HC16	ABC3G_HUMAN	T	48	ENSP00000413376:P48T;ENSP00000385057:P48T	ENSP00000385057:P48T	P	+	1	0	APOBEC3G	37805007	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.329000	0.07935	-1.166000	0.02783	-0.291000	0.09656	CCT		0.507	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		3	51	1	0	0.00909568	0.150653	0.0096825	3	51				
MITF	4286	broad.mit.edu	37	3	69987187	69987187	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:69987187A>G	ENST00000448226.2	+	3	696	c.569A>G	c.(568-570)aAc>aGc	p.N190S	MITF_ENST00000314557.6_Missense_Mutation_p.N83S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.N83S|MITF_ENST00000472437.1_Missense_Mutation_p.N138S|MITF_ENST00000352241.4_Missense_Mutation_p.N190S|MITF_ENST00000328528.6_Missense_Mutation_p.N189S|MITF_ENST00000314589.5_Missense_Mutation_p.N174S|MITF_ENST00000531774.1_Intron|MITF_ENST00000394355.2_Missense_Mutation_p.N165S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	190					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTAACTCCAACTGTGAAAAA	0.488			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(568-570)aAc>aGc		microphthalmia-associated transcription factor							76.0	66.0	69.0					3																	69987187		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69987187A>G		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.569A>G	3.37:g.69987187A>G	ENSP00000391803:p.Asn190Ser					MITF_ENST00000448226.2_Missense_Mutation_p.N190S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Missense_Mutation_p.N165S|MITF_ENST00000472437.1_Missense_Mutation_p.N138S|MITF_ENST00000394351.3_Missense_Mutation_p.N83S|MITF_ENST00000531774.1_Intron|MITF_ENST00000314589.5_Missense_Mutation_p.N174S|MITF_ENST00000314557.6_Missense_Mutation_p.N83S|MITF_ENST00000328528.6_Missense_Mutation_p.N189S	p.N190S	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	3	732	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	190					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.569A>G		.	.	.	.	.	.	.	.	.	.	A	9.900	1.206637	0.22205	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.25085	2.67;2.2;2.46;2.65;1.85;2.64;2.66;2.41;1.82	5.43	4.24	0.50183	.	0.275563	0.45606	D	0.000344	T	0.20170	0.0485	L	0.38531	1.155	0.51767	D	0.999938	B;B;B;B;B;B;B	0.33940	0.047;0.078;0.078;0.194;0.194;0.198;0.433	B;B;B;B;B;B;B	0.34418	0.049;0.106;0.106;0.172;0.172;0.172;0.182	T	0.03103	-1.1072	9	.	.	.	.	11.2501	0.49020	0.7074:0.2926:0.0:0.0	.	138;83;83;165;174;189;190	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	S	190;190;138;189;174;174;165;83;83	ENSP00000295600:N190S;ENSP00000391803:N190S;ENSP00000418845:N138S;ENSP00000327867:N189S;ENSP00000398639:N174S;ENSP00000324443:N174S;ENSP00000377884:N165S;ENSP00000324246:N83S;ENSP00000377880:N83S	.	N	+	2	0	MITF	70069877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.986000	0.70563	0.844000	0.35094	0.533000	0.62120	AAC		0.488	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		41	70	0	0	0	0.086207	0	41	70				
GPT	2875	broad.mit.edu	37	8	145731945	145731945	+	Missense_Mutation	SNP	A	A	G	rs200853809		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:145731945A>G	ENST00000528431.1	+	10	1350	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	GPT_ENST00000394955.2_Missense_Mutation_p.N398S|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	398					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CAGGTCTTCAATGAGGCTCCT	0.692													A|||	1	0.000199681	0.0008	0.0	5008	,	,		12082	0.0		0.0	False		,,,				2504	0.0					ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1192-1194)aAt>aGt		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	A	SER/ASN	0,4290		0,0,2145	17.0	11.0	13.0		1193	2.0	0.1	8		13	1,8419		0,1,4209	no	missense	GPT	NM_005309.2	46	0,1,6354	GG,GA,AA		0.0119,0.0,0.0079	benign	398/497	145731945	1,12709	2145	4210	6355	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145731945A>G		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1193A>G	8.37:g.145731945A>G	ENSP00000433586:p.Asn398Ser					GPT_ENST00000528431.1_Missense_Mutation_p.N398S	p.N398S	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		9	1416	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		398					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.1193A>G	CCDS6430.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.45	1.643798	0.29246	0.0	1.19E-4	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90444	-2.67;-2.67	4.54	2.02	0.26589	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	M	0.77616	2.38	0.51767	D	0.999937	B	0.09022	0.002	B	0.16289	0.015	T	0.80339	-0.1424	10	0.49607	T	0.09	-6.8781	6.062	0.19842	0.7283:0.1785:0.0932:0.0	.	398	P24298	ALAT1_HUMAN	S	398	ENSP00000433586:N398S;ENSP00000378408:N398S	ENSP00000378408:N398S	N	+	2	0	GPT	145702753	0.584000	0.26766	0.120000	0.21714	0.573000	0.36030	1.417000	0.34770	0.095000	0.17434	-0.411000	0.06167	AAT		0.692	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			5	9	0	0	0	0.029380	0	5	9				
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-	rs373179673	byFrequency	TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:142895155delC	ENST00000560287.1	+	0	29									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGCCTCAGGGCCCCCCCCCAG	0.746													|||unknown(ALL_OTHER_Ns)	2344	0.468051	0.7186	0.3357	5008	,	,		7117	0.2887		0.4036	False		,,,				2504	0.4744					ENST00000560287.1																			0																																																			0							g.chr3:142895155delC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895155delC														0	29	+									RNA	DEL	ENST00000560287.1	37																																																																																						0.746	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		4	3						4	3	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		6	10						6	10	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-	rs571456178		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)aagfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7159-7161)agfs		testis expressed 15							183.0	183.0	183.0					8																	30695491		2203	4300	6503	SO:0001589	frameshift_variant	56154							g.chr8:30695491delT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7160delA	8.37:g.30695491delT	ENSP00000256246:p.Lys2387fs						p.K2387fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7234	-			2387						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.7160delA	CCDS6080.1																																																																																				0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	323						7	323	---	---	---	---
LOC101928381	101928381	broad.mit.edu	37	9	70117581	70117581	+	RNA	DEL	G	G	-	rs576077998	byFrequency	TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:70117581delG	ENST00000588215.1	-	0	82																											GGTCTTCAGAGGTTTACCCTC	0.423													|||unknown(NO_COVERAGE)	29	0.00579073	0.0091	0.0086	5008	,	,		21807	0.004		0.003	False		,,,				2504	0.0041					ENST00000588215.1																			0																																																			0							g.chr9:70117581delG																													9.37:g.70117581delG														0	82	-									RNA	DEL	ENST00000588215.1	37																																																																																						0.423	RP11-15J10.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453138.1			3	3						3	3	---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64575515	64575515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:64575515delG	ENST00000337652.1	-	3	1020	c.517delC	c.(517-519)ctgfs	p.L173fs	MEN1_ENST00000443283.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.L168fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.L168fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.L173fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000315422.4_Frame_Shift_Del_p.L168fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	173			L -> P (in MEN1). {ECO:0000269|PubMed:9820618}.|Missing (in MEN1). {ECO:0000269|PubMed:9747036}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGGAGACCCAGGGCCTGGCAG	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Deletion - Frameshift(1)	p.A167fs*10(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(517-519)tgfs		multiple endocrine neoplasia I							41.0	41.0	41.0					11																	64575515		2201	4297	6498	SO:0001589	frameshift_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575515delG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.517delC	11.37:g.64575515delG	ENSP00000337088:p.Leu173fs					MEN1_ENST00000312049.6_Frame_Shift_Del_p.L168fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.L168fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.L168fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.L173fs	p.L173fs	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1020	-			173		L -> P (in MEN1).|Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	c.517delC	CCDS8083.1																																																																																				0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			21	41						21	41	---	---	---	---
