#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
KIR3DL3	115653	broad.mit.edu	37	19	55247442	55247442	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:55247442C>G	ENST00000291860.1	+	8	1130	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_5'Flank|KIR2DL3_ENST00000342376.3_5'Flank	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	371						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCAGGACTCTGATGAACAA	0.537																																						ENST00000291860.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21						c.(1111-1113)tCt>tGt		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3							37.0	44.0	42.0					19																	55247442		1823	3821	5644	SO:0001583	missense	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55247442C>G	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1112C>G	19.37:g.55247442C>G	ENSP00000291860:p.Ser371Cys					CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron	p.S371C	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1130	+			371					A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	c.1112C>G	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.244973	0.22796	.	.	ENSG00000242019	ENST00000291860	T	0.00493	7.0	1.08	-2.16	0.07080	.	24.772900	0.00166	U	0.000005	T	0.01523	0.0049	M	0.91300	3.195	0.09310	N	1	D	0.58970	0.984	P	0.54965	0.765	T	0.43491	-0.9388	10	0.87932	D	0	.	2.5911	0.04843	0.0:0.4502:0.3086:0.2413	.	371	Q8N743	KI3L3_HUMAN	C	371	ENSP00000291860:S371C	ENSP00000291860:S371C	S	+	2	0	KIR3DL3	59939254	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.119000	0.10676	-0.557000	0.06126	0.184000	0.17185	TCT		0.537	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		4	155	0	0	0	1	0	4	155				
IPO4	79711	broad.mit.edu	37	14	24655922	24655922	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr14:24655922T>C	ENST00000354464.6	-	9	1008	c.832A>G	c.(832-834)Aag>Gag	p.K278E	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	278					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ACCTTGCTCTTGACTTTGACC	0.493																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(832-834)Aag>Gag		importin 4							87.0	90.0	89.0					14																	24655922		2054	4192	6246	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655922T>C	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.832A>G	14.37:g.24655922T>C	ENSP00000346453:p.Lys278Glu					RP11-468E2.2_ENST00000561419.1_3'UTR	p.K278E	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	9	1008	-			278					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.832A>G	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526438	0.85600	.	.	ENSG00000196497	ENST00000354464	T	0.04275	3.66	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.127203	0.51477	D	0.000094	T	0.15739	0.0379	L	0.57536	1.79	0.58432	D	0.999999	P	0.51449	0.945	P	0.61477	0.889	T	0.00152	-1.1984	10	0.62326	D	0.03	-20.6183	13.9355	0.64023	0.0:0.0:0.0:1.0	.	278	Q8TEX9	IPO4_HUMAN	E	278	ENSP00000346453:K278E	ENSP00000346453:K278E	K	-	1	0	IPO4	23725762	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.083000	0.71326	2.174000	0.68829	0.533000	0.62120	AAG		0.493	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		31	30	0	0	0	1	0	31	30				
NF1	4763	broad.mit.edu	37	17	29553521	29553521	+	Silent	SNP	C	C	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553521C>G	ENST00000358273.4	+	18	2453	c.2070C>G	c.(2068-2070)gcC>gcG	p.A690A	NF1_ENST00000356175.3_Silent_p.A690A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	690					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAAGTGGCCCTGTACATGT	0.542			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2068-2070)gcC>gcG		neurofibromin 1							73.0	76.0	75.0					17																	29553521		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553521C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2070C>G	17.37:g.29553521C>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.A690A	p.A690A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2453	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	690					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.2070C>G	CCDS42292.1																																																																																				0.542	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	115	0	0	0	1	0	4	115				
NF1	4763	broad.mit.edu	37	17	29654675	29654675	+	Silent	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29654675G>A	ENST00000358273.4	+	38	5810	c.5427G>A	c.(5425-5427)ccG>ccA	p.P1809P	NF1_ENST00000356175.3_Silent_p.P1788P|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1809	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGGCACGCCGCTCACCTTCA	0.478			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5425-5427)ccG>ccA		neurofibromin 1							137.0	130.0	132.0					17																	29654675		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654675G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5427G>A	17.37:g.29654675G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.P1788P	p.P1809P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	38	5810	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1809					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.5427G>A	CCDS42292.1																																																																																				0.478	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	179	0	0	0	1	0	4	179				
HERC2P9	440248	broad.mit.edu	37	15	28900818	28900818	+	RNA	SNP	C	C	T	rs191546863		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr15:28900818C>T	ENST00000528584.1	+	0	162					NR_036443.1				hect domain and RLD 2 pseudogene 9																		CACAGCTTTGCGGGAAGGCCT	0.547																																						ENST00000528584.1																			0																																																			0							g.chr15:28900818C>T	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900818C>T								NR_036443.1						0	162	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.547	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	127	0	0	0	1	0	4	127				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		5	454	0	0	0	1	0	5	454				
C5orf49	134121	broad.mit.edu	37	5	7835522	7835522	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:7835522T>G	ENST00000399810.2	-	2	705	c.237A>C	c.(235-237)aaA>aaC	p.K79N	C5orf49_ENST00000509627.1_Missense_Mutation_p.K79N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	79										large_intestine(3)|lung(5)|skin(1)	9						GTCCCAGGCTTTTTGCATGTT	0.338																																						ENST00000399810.2																			0				large_intestine(3)|lung(5)|skin(1)	9						c.(235-237)aaA>aaC		chromosome 5 open reading frame 49							145.0	141.0	142.0					5																	7835522		1827	4094	5921	SO:0001583	missense	134121							g.chr5:7835522T>G		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.237A>C	5.37:g.7835522T>G	ENSP00000382708:p.Lys79Asn					C5orf49_ENST00000509627.1_Missense_Mutation_p.K79N	p.K79N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN			2	705	-			79						Missense_Mutation	SNP	ENST00000399810.2	37	c.237A>C	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175640	0.57692	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.35789	1.29;1.29	4.95	-3.81	0.04294	.	.	.	.	.	T	0.31295	0.0792	M	0.63843	1.955	0.22050	N	0.99939	B	0.23540	0.087	B	0.25759	0.063	T	0.39542	-0.9609	9	0.72032	D	0.01	-11.3251	6.5529	0.22444	0.0:0.4092:0.1376:0.4532	.	79	A4QMS7	CE049_HUMAN	N	79	ENSP00000382708:K79N;ENSP00000426019:K79N	ENSP00000382708:K79N	K	-	3	2	C5orf49	7888522	0.312000	0.24545	0.005000	0.12908	0.924000	0.55760	-0.552000	0.06020	-0.906000	0.03866	0.459000	0.35465	AAA		0.338	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		77	162	0	0	0	1	0	77	162				
TMTC4	84899	broad.mit.edu	37	13	101294550	101294550	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr13:101294550G>A	ENST00000376234.3	-	6	788	c.599C>T	c.(598-600)gCg>gTg	p.A200V	TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.A219V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAAGAATGCGCTCCCTCCTT	0.468																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(655-657)gCg>gTg		transmembrane and tetratricopeptide repeat containing 4							123.0	132.0	129.0					13																	101294550		2052	4185	6237	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101294550G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.599C>T	13.37:g.101294550G>A	ENSP00000365408:p.Ala200Val					TMTC4_ENST00000376234.3_Missense_Mutation_p.A200V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V	p.A219V	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			7	914	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		200					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.656C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335831	0.11013	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.61627	0.11;0.09;1.07	5.72	4.88	0.63580	.	0.781737	0.12552	N	0.458967	T	0.34890	0.0913	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.16041	-1.0416	10	0.12103	T	0.63	.	10.7373	0.46133	0.0699:0.0:0.7922:0.1379	.	89;200;219	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	V	200;219;89	ENSP00000365408:A200V;ENSP00000343871:A219V;ENSP00000365409:A89V	ENSP00000365409:A89V	A	-	2	0	TMTC4	100092551	0.007000	0.16637	0.008000	0.14137	0.239000	0.25481	1.233000	0.32648	1.435000	0.47434	-0.217000	0.12591	GCG		0.468	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		68	106	0	0	0	1	0	68	106				
ATP11C	286410	broad.mit.edu	37	X	138879424	138879424	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:138879424T>C	ENST00000327569.3	-	11	1026	c.928A>G	c.(928-930)Act>Gct	p.T310A	ATP11C_ENST00000370543.1_Missense_Mutation_p.T310A|ATP11C_ENST00000370557.1_Missense_Mutation_p.T307A|ATP11C_ENST00000359686.2_Missense_Mutation_p.T310A|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.T310A	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	310					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTAGAGTAGTGCATACTGCA	0.338																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(919-921)Act>Gct		ATPase, class VI, type 11C							119.0	111.0	114.0					X																	138879424		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138879424T>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.928A>G	X.37:g.138879424T>C	ENSP00000332756:p.Thr310Ala					ATP11C_ENST00000359686.2_Missense_Mutation_p.T310A|ATP11C_ENST00000327569.3_Missense_Mutation_p.T310A|ATP11C_ENST00000370543.1_Missense_Mutation_p.T310A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T310A|ATP11C_ENST00000460773.1_5'UTR	p.T307A			Q8NB49	AT11C_HUMAN			11	1946	-	Acute lymphoblastic leukemia(192;0.000127)		310					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.919A>G	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369116	0.82463	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	L	0.35341	1.055	0.54753	D	0.99998	D;D	0.69078	0.994;0.997	P;D	0.63957	0.869;0.92	D	0.87086	0.2169	10	0.11182	T	0.66	.	13.5262	0.61597	0.0:0.0:0.0:1.0	.	310;310	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	A	307;310;310;310;310	ENSP00000359588:T307A;ENSP00000355165:T310A;ENSP00000332756:T310A;ENSP00000359574:T310A;ENSP00000352715:T310A	ENSP00000332756:T310A	T	-	1	0	ATP11C	138707090	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.655000	0.83696	1.857000	0.53885	0.486000	0.48141	ACT		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		89	139	0	0	0	1	0	89	139				
NPY2R	4887	broad.mit.edu	37	4	156135535	156135535	+	Silent	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:156135535G>A	ENST00000329476.3	+	2	933	c.444G>A	c.(442-444)cgG>cgA	p.R148R	NPY2R_ENST00000506608.1_Silent_p.R148R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCCTGGACCGGCACAGGTGCA	0.557																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(442-444)cgG>cgA		neuropeptide Y receptor Y2							55.0	51.0	52.0					4																	156135535		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135535G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.444G>A	4.37:g.156135535G>A						NPY2R_ENST00000506608.1_Silent_p.R148R	p.R148R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	933	+	all_hematologic(180;0.24)	Renal(120;0.0854)	148					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.444G>A	CCDS3791.1																																																																																				0.557	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		4	91	0	0	0	1	0	4	91				
GOLGA2P9	440518	broad.mit.edu	37	19	22780167	22780167	+	RNA	SNP	A	A	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:22780167A>G	ENST00000600260.1	+	0	245					NR_033899.1																						TAACCCCGAGACAACCACTTC	0.512																																						ENST00000600260.1																			0																																																			0							g.chr19:22780167A>G																													19.37:g.22780167A>G								NR_033899.1						0	245	+									RNA	SNP	ENST00000600260.1	37																																																																																						0.512	CTC-457E21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464572.1			35	58	0	0	0	1	0	35	58				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		6	137	0	0	0	1	0	6	137				
KIAA1407	57577	broad.mit.edu	37	3	113684008	113684008	+	Silent	SNP	G	G	A	rs145304274	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:113684008G>A	ENST00000295878.3	-	17	2951	c.2805C>T	c.(2803-2805)aaC>aaT	p.N935N		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	935										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGGCTCATTCGTTCACCAGAC	0.438													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17460	0.0		0.0	False		,,,				2504	0.0					ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2803-2805)aaC>aaT		KIAA1407		G		21,4385	29.0+/-57.7	0,21,2182	115.0	116.0	116.0		2805	2.4	0.0	3	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	KIAA1407	NM_020817.1		0,21,6482	AA,AG,GG		0.0,0.4766,0.1615		935/937	113684008	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113684008G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2805C>T	3.37:g.113684008G>A							p.N935N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2951	-			935					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2805C>T	CCDS2977.1																																																																																				0.438	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		12	123	0	0	0	1	0	12	123				
ADAM7	8756	broad.mit.edu	37	8	24300025	24300025	+	Missense_Mutation	SNP	G	G	A	rs375491503		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr8:24300025G>A	ENST00000175238.6	+	2	175	c.92G>A	c.(91-93)cGt>cAt	p.R31H	ADAM7_ENST00000380789.1_Missense_Mutation_p.R31H|ADAM7_ENST00000441335.2_Missense_Mutation_p.R31H|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	31			R -> C (in a cutaneous metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:21618342}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAACTGGTTCGTCCTAAAAAG	0.403																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(91-93)cGt>cAt		ADAM metallopeptidase domain 7		G	HIS/ARG	0,4406		0,0,2203	219.0	213.0	215.0		92	-2.8	0.0	8		215	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM7	NM_003817.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	31/755	24300025	1,13005	2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24300025G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.92G>A	8.37:g.24300025G>A	ENSP00000175238:p.Arg31His					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R31H|ADAM7_ENST00000441335.2_Missense_Mutation_p.R31H	p.R31H	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	2	175	+		Prostate(55;0.0181)	31					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.92G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	4.639	0.118795	0.08881	0.0	1.16E-4	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.05786	3.39;3.39;3.39	4.23	-2.84	0.05751	Peptidase M12B, propeptide (1);	1.206810	0.06086	N	0.662833	T	0.02610	0.0079	N	0.04373	-0.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44877	-0.9299	10	0.31617	T	0.26	.	2.859	0.05580	0.4029:0.0:0.2802:0.3168	.	31;31	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	H	31	ENSP00000393073:R31H;ENSP00000175238:R31H;ENSP00000370166:R31H	ENSP00000175238:R31H	R	+	2	0	ADAM7	24355970	0.936000	0.31750	0.042000	0.18584	0.293000	0.27360	0.222000	0.17699	-0.489000	0.06716	-1.486000	0.00981	CGT		0.403	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		6	349	0	0	0	1	0	6	349				
MGAM	8972	broad.mit.edu	37	7	141754687	141754687	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr7:141754687G>A	ENST00000549489.2	+	27	3388	c.3293G>A	c.(3292-3294)cGg>cAg	p.R1098Q	MGAM_ENST00000475668.2_Missense_Mutation_p.R1098Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1098	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1098Q(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAATTCGCCGGAAGAGTACA	0.502																																						ENST00000475668.2																			1	Substitution - Missense(1)	p.R1098Q(1)	large_intestine(1)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3292-3294)cGg>cAg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						69.0	66.0	67.0					7																	141754687		1870	4094	5964	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141754687G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3293G>A	7.37:g.141754687G>A	ENSP00000447378:p.Arg1098Gln					MGAM_ENST00000549489.2_Missense_Mutation_p.R1098Q	p.R1098Q			O43451	MGA_HUMAN			27	3347	+	Melanoma(164;0.0272)		1098			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3293G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997028	0.54147	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.33438	1.41	4.24	4.24	0.50183	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.34338	N	0.004050	T	0.70298	0.3208	H	0.97852	4.09	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.71912	-0.4449	10	0.87932	D	0	.	15.3761	0.74607	0.0:0.0:1.0:0.0	.	1098	O43451	MGA_HUMAN	Q	1098;1098;975	ENSP00000447378:R1098Q	ENSP00000316431:R975Q	R	+	2	0	MGAM	141401156	0.998000	0.40836	0.021000	0.16686	0.014000	0.08584	8.923000	0.92808	1.890000	0.54733	0.460000	0.39030	CGG		0.502	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	167	0	0	0	1	0	4	167				
VIM	7431	broad.mit.edu	37	10	17277216	17277216	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr10:17277216G>A	ENST00000224237.5	+	6	1202	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.V353I			P08670	VIME_HUMAN	vimentin	353	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAACTTTGCCGTTGAAGCTGC	0.483																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1057-1059)Gtt>Att		vimentin							129.0	112.0	117.0					10																	17277216		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277216G>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1057G>A	10.37:g.17277216G>A	ENSP00000224237:p.Val353Ile					VIM_ENST00000224237.5_Missense_Mutation_p.V353I	p.V353I	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1470	+			353			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1057G>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507634	0.27036	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.88664	-2.41;-2.41	5.91	1.72	0.24424	Filament (1);	0.170991	0.27270	N	0.020121	T	0.78836	0.4346	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.15719	0.014;0.011;0.012;0.014	B;B;B;B	0.18561	0.013;0.008;0.022;0.013	T	0.62011	-0.6944	10	0.25106	T	0.35	.	10.8	0.46483	0.1262:0.47:0.4038:0.0	.	353;340;353;353	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	I	353;353;340	ENSP00000446007:V353I;ENSP00000224237:V353I	ENSP00000224237:V353I	V	+	1	0	VIM	17317222	0.563000	0.26594	0.003000	0.11579	0.982000	0.71751	0.756000	0.26419	0.032000	0.15435	0.643000	0.83706	GTT		0.483	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		4	135	0	0	0	1	0	4	135				
CIC	23152	broad.mit.edu	37	19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42791853C>T	ENST00000575354.2	+	5	779	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Q1156*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGGAGAAGCAGAAGTACCA	0.632			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3466-3468)Cag>Tag		capicua transcriptional repressor							80.0	72.0	75.0					19																	42791853		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791853C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.739C>T	19.37:g.42791853C>T	ENSP00000458663:p.Gln247*					CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*	p.Q1156*			Q96RK0	CIC_HUMAN			6	3534	+		Prostate(69;0.00682)	247			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3466C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	41	8.861012	0.98980	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.5875	14.5138	0.67807	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000160740:Q247X	Q	+	1	0	CIC	47483693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.384000	0.66225	2.284000	0.76573	0.555000	0.69702	CAG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	76	0	0	0	1	0	5	76				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	184	0	0	0	1	0	7	184				
STAP1	26228	broad.mit.edu	37	4	68456652	68456652	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:68456652C>A	ENST00000265404.2	+	7	792	c.710C>A	c.(709-711)aCt>aAt	p.T237N	STAP1_ENST00000396225.1_Missense_Mutation_p.T237N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	237	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CAAAACTACACTATTGAACTG	0.373																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(709-711)aCt>aAt		signal transducing adaptor family member 1							86.0	74.0	78.0					4																	68456652		2203	4300	6503	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68456652C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.710C>A	4.37:g.68456652C>A	ENSP00000265404:p.Thr237Asn					STAP1_ENST00000396225.1_Missense_Mutation_p.T237N	p.T237N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			7	792	+			237			SH2.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.710C>A	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248427	0.59103	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.88896	-2.44;-2.44	5.56	4.72	0.59763	SH2 motif (4);	0.162693	0.56097	D	0.000037	D	0.91630	0.7355	L	0.51422	1.61	0.43118	D	0.994834	D	0.76494	0.999	D	0.72338	0.977	D	0.92069	0.5663	10	0.87932	D	0	-7.8768	10.6699	0.45751	0.0:0.9116:0.0:0.0884	.	237	Q9ULZ2	STAP1_HUMAN	N	237	ENSP00000265404:T237N;ENSP00000379527:T237N	ENSP00000265404:T237N	T	+	2	0	STAP1	68139247	0.956000	0.32656	0.999000	0.59377	0.919000	0.55068	1.125000	0.31332	1.490000	0.48466	-0.142000	0.14014	ACT		0.373	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		8	112	1	0	5.68852e-11	1	6.14728e-11	8	112				
CETN2	1069	broad.mit.edu	37	X	151997187	151997187	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:151997187T>C	ENST00000370277.3	-	4	389	c.323A>G	c.(322-324)aAa>aGa	p.K108R	NSDHL_ENST00000440023.1_5'Flank|CETN2_ENST00000493482.1_5'UTR|NSDHL_ENST00000370274.3_5'Flank	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	108	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGAAAGCTTTCAGGATTTC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3																			0				breast(1)|lung(4)|prostate(1)|skin(1)	7						c.(322-324)aAa>aGa	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							79.0	71.0	74.0					X																	151997187		2203	4300	6503	SO:0001583	missense	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151997187T>C	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.323A>G	X.37:g.151997187T>C	ENSP00000359300:p.Lys108Arg					CETN2_ENST00000493482.1_5'UTR	p.K108R	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN			4	389	-	Acute lymphoblastic leukemia(192;6.56e-05)		108			EF-hand 3.		B2R4T4|Q53XW1	Missense_Mutation	SNP	ENST00000370277.3	37	c.323A>G	CCDS14716.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423584	0.62733	.	.	ENSG00000147400	ENST00000370277	T	0.37584	1.19	6.17	6.17	0.99709	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	N	0.16478	0.41	0.80722	D	1	B	0.26635	0.155	B	0.26969	0.075	T	0.07121	-1.0789	10	0.56958	D	0.05	.	13.4605	0.61225	0.0:0.0:0.0:1.0	.	108	P41208	CETN2_HUMAN	R	108	ENSP00000359300:K108R	ENSP00000359300:K108R	K	-	2	0	CETN2	151747843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.882000	0.87258	2.088000	0.63022	0.486000	0.48141	AAA		0.433	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	NM_004344		58	95	0	0	0	1	0	58	95				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	283	0	0	0	1	0	5	283				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			65	119	0	0	0	1	0	65	119				
NCAN	1463	broad.mit.edu	37	19	19338812	19338812	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:19338812C>T	ENST00000252575.6	+	8	2482	c.2383C>T	c.(2383-2385)Cca>Tca	p.P795S	NCAN_ENST00000538881.1_Missense_Mutation_p.P246S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	795					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGCAAGTTCCCCATCTGCCCC	0.577																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2383-2385)Cca>Tca		neurocan							47.0	54.0	52.0					19																	19338812		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338812C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2383C>T	19.37:g.19338812C>T	ENSP00000252575:p.Pro795Ser					NCAN_ENST00000538881.1_Missense_Mutation_p.P246S	p.P795S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2426	+			795					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2383C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	3.742	-0.053360	0.07362	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85339	-1.78;-1.97	3.93	0.593	0.17478	.	0.876565	0.09489	N	0.795197	T	0.68586	0.3017	N	0.24115	0.695	0.09310	N	1	B;B	0.18461	0.027;0.028	B;B	0.18263	0.021;0.015	T	0.52457	-0.8573	10	0.07030	T	0.85	-0.1236	3.486	0.07619	0.1991:0.5861:0.0:0.2147	.	809;795	Q4LE67;O14594	.;NCAN_HUMAN	S	809;795;246	ENSP00000252575:P795S;ENSP00000442202:P246S	ENSP00000252575:P795S	P	+	1	0	NCAN	19199812	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.281000	0.02802	0.247000	0.21414	0.561000	0.74099	CCA		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		4	148	0	0	0	1	0	4	148				
PXDNL	137902	broad.mit.edu	37	8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2569-2571)gCg>gTg		peroxidasin homolog (Drosophila)-like							19.0	23.0	22.0					8																	52321614		2025	4143	6168	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321614G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2570C>T	8.37:g.52321614G>A	ENSP00000348645:p.Ala857Val					PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	p.A857V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2670	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	857					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2570C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	7.521	0.656623	0.14580	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.49	0.493	0.16878	.	0.753446	0.11213	N	0.587551	T	0.38746	0.1052	N	0.11756	0.17	0.09310	N	1	P	0.37398	0.593	B	0.29862	0.108	T	0.15009	-1.0452	10	0.30854	T	0.27	.	4.9674	0.14098	0.2166:0.1744:0.609:0.0	.	857	A1KZ92	PXDNL_HUMAN	V	857	ENSP00000348645:A857V;ENSP00000444865:A857V	ENSP00000348645:A857V	A	-	2	0	PXDNL	52484167	0.814000	0.29104	0.000000	0.03702	0.000000	0.00434	3.338000	0.52128	-0.162000	0.10964	-1.087000	0.02190	GCG		0.682	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	74	0	0	0	1	0	8	74				
HSPA9	3313	broad.mit.edu	37	5	137895665	137895665	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:137895665G>A	ENST00000297185.3	-	11	1423	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000384262.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	433					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGCACATCCGTGACATCGCC	0.498																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(1297-1299)aCg>aTg		heat shock 70kDa protein 9 (mortalin)							78.0	73.0	75.0					5																	137895665		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137895665G>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1298C>T	5.37:g.137895665G>A	ENSP00000297185:p.Thr433Met					HSPA9_ENST00000501917.2_Intron	p.T433M	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1423	-			433					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.1298C>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845400	0.51164	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.04317	3.65	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.55541	-0.8125	10	0.87932	D	0	-14.3546	15.5616	0.76253	0.0:0.0:0.8607:0.1393	.	364;433	B7Z1V7;P38646	.;GRP75_HUMAN	M	433;386;419	ENSP00000297185:T433M	ENSP00000297185:T433M	T	-	2	0	HSPA9	137923564	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.912000	0.87465	1.443000	0.47586	-0.181000	0.13052	ACG		0.498	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		7	73	0	0	0	1	0	7	73				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	22	0	0	0	1	0	5	22				
MADD	8567	broad.mit.edu	37	11	47303193	47303193	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:47303193A>G	ENST00000311027.5	+	8	1523	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	MADD_ENST00000395336.3_Missense_Mutation_p.E453G|MADD_ENST00000395344.3_Missense_Mutation_p.E453G|MADD_ENST00000402799.1_Missense_Mutation_p.E453G|MADD_ENST00000406482.1_Missense_Mutation_p.E453G|MADD_ENST00000342922.4_Missense_Mutation_p.E453G|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.E453G|MADD_ENST00000349238.3_Missense_Mutation_p.E453G|MADD_ENST00000402192.2_Missense_Mutation_p.E453G	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAGGGCCAGGAGATCCCCCTT	0.498																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1357-1359)gAg>gGg		MAP-kinase activating death domain							112.0	97.0	102.0					11																	47303193		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47303193A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1358A>G	11.37:g.47303193A>G	ENSP00000310933:p.Glu453Gly					MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.E453G|MADD_ENST00000406482.1_Missense_Mutation_p.E453G|MADD_ENST00000402799.1_Missense_Mutation_p.E453G|MADD_ENST00000402192.2_Missense_Mutation_p.E453G|MADD_ENST00000395336.3_Missense_Mutation_p.E453G|MADD_ENST00000395344.3_Missense_Mutation_p.E453G|MADD_ENST00000349238.3_Missense_Mutation_p.E453G|MADD_ENST00000311027.5_Missense_Mutation_p.E453G	p.E453G	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	8	1715	+			453						Missense_Mutation	SNP	ENST00000311027.5	37	c.1358A>G	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701648	0.88924	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06687	3.39;3.29;3.29;3.37;3.38;3.27;3.29;3.37;3.39	5.83	5.83	0.93111	.	0.097898	0.64402	D	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.80722	D	1	B;B;P;P;B;P;P;P;B;B	0.52061	0.349;0.021;0.837;0.481;0.022;0.481;0.486;0.95;0.021;0.043	B;B;B;B;B;B;B;P;B;B	0.55577	0.108;0.02;0.356;0.217;0.037;0.217;0.268;0.779;0.017;0.053	T	0.19614	-1.0300	10	0.42905	T	0.14	-14.7837	16.2016	0.82087	1.0:0.0:0.0:0.0	.	453;453;453;453;453;453;453;453;453;453	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	G	453	ENSP00000343902:E453G;ENSP00000385585:E453G;ENSP00000384435:E453G;ENSP00000304505:E453G;ENSP00000310933:E453G;ENSP00000384204:E453G;ENSP00000378753:E453G;ENSP00000378745:E453G;ENSP00000384287:E453G	ENSP00000310933:E453G	E	+	2	0	MADD	47259769	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.825000	0.92029	2.235000	0.73313	0.459000	0.35465	GAG		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			9	114	0	0	0	1	0	9	114				
UTP14A	10813	broad.mit.edu	37	X	129042694	129042694	+	Silent	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:129042694C>T	ENST00000394422.3	+	4	250	c.222C>T	c.(220-222)ttC>ttT	p.F74F	UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.F74F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	74					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGTCAGAGTTCAATGTCAGTT	0.443																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(220-222)ttC>ttT		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							227.0	216.0	220.0					X																	129042694		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129042694C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.222C>T	X.37:g.129042694C>T						RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.F74F|UTP14A_ENST00000371051.5_Intron	p.F74F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			4	250	+			74					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.222C>T	CCDS14615.1																																																																																				0.443	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		24	550	0	0	0	1	0	24	550				
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GATGGGACAGGTGAGTTCCCT	0.483																																						ENST00000526016.1																			0																																																			0							g.chr11:55065705G>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065705G>A								NR_038174.2						0	3	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.483	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			4	157	0	0	0	1	0	4	157				
NF1	4763	broad.mit.edu	37	17	29553550	29553550	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553550C>G	ENST00000358273.4	+	18	2482	c.2099C>G	c.(2098-2100)aCt>aGt	p.T700S	NF1_ENST00000356175.3_Missense_Mutation_p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	700					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.T700S(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACCCTGACACTGAAGCTGTT	0.552			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	p.0?(8)|p.?(4)|p.T700S(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|NS(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2098-2100)aCt>aGt		neurofibromin 1							89.0	88.0	88.0					17																	29553550		2203	4299	6502	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553550C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2099C>G	17.37:g.29553550C>G	ENSP00000351015:p.Thr700Ser	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.T700S	p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2482	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	700					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2099C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635717	0.47049	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.63580	-0.05;-0.05;2.98	5.69	4.64	0.57946	Armadillo-type fold (1);	0.156674	0.56097	D	0.000023	T	0.46308	0.1386	L	0.27053	0.805	0.80722	D	1	B;B;B	0.18863	0.031;0.008;0.0	B;B;B	0.18561	0.021;0.022;0.003	T	0.35968	-0.9767	10	0.30078	T	0.28	.	10.2392	0.43301	0.0:0.8542:0.0:0.1458	.	700;700;700	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	S	700;700;366	ENSP00000351015:T700S;ENSP00000348498:T700S;ENSP00000389907:T366S	ENSP00000348498:T700S	T	+	2	0	NF1	26577676	0.998000	0.40836	0.999000	0.59377	0.985000	0.73830	2.763000	0.47605	2.679000	0.91253	0.650000	0.86243	ACT		0.552	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	144	0	0	0	1	0	5	144				
TMTC1	83857	broad.mit.edu	37	12	29786175	29786175	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:29786175G>T	ENST00000539277.1	-	6	1091	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	TMTC1_ENST00000551659.1_Missense_Mutation_p.L407M|TMTC1_ENST00000256062.5_Missense_Mutation_p.L237M|TMTC1_ENST00000381224.2_Missense_Mutation_p.L299M|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.L407M	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	345						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTCTCTACCAGAGGAATACTG	0.502																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(709-711)Ctg>Atg		transmembrane and tetratricopeptide repeat containing 1							118.0	102.0	107.0					12																	29786175		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29786175G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1033C>A	12.37:g.29786175G>T	ENSP00000442046:p.Leu345Met					TMTC1_ENST00000552618.1_Missense_Mutation_p.L407M|TMTC1_ENST00000539277.1_Missense_Mutation_p.L345M|TMTC1_ENST00000381224.2_Missense_Mutation_p.L299M|TMTC1_ENST00000551659.1_Missense_Mutation_p.L407M|TMTC1_ENST00000319685.8_5'UTR	p.L237M	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			6	1182	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		345					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.709C>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	.	15.35	2.807298	0.50421	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.53	2.67	0.31697	Domain of unknown function DUF1736 (1);	0.000000	0.64402	D	0.000002	T	0.72882	0.3516	M	0.84433	2.695	0.34033	D	0.654085	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.986;0.999	T	0.82070	-0.0639	9	.	.	.	-16.3348	12.9252	0.58257	0.1979:0.0:0.8021:0.0	.	299;345;407	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	M	108;237;407;407;345;299	ENSP00000256062:L237M;ENSP00000448112:L407M;ENSP00000449043:L407M;ENSP00000442046:L345M;ENSP00000370622:L299M	.	L	-	1	2	TMTC1	29677442	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.914000	0.39966	0.701000	0.31803	-0.797000	0.03246	CTG		0.502	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		42	69	1	0	1.57019e-19	1	1.72464e-19	42	69				
DRC7	84229	broad.mit.edu	37	16	57760786	57760786	+	Missense_Mutation	SNP	G	G	A	rs141535311		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr16:57760786G>A	ENST00000360716.3	+	15	2238	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E608K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E673K			Q8IY82	CC135_HUMAN		673					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTACCAGTACGAGGCCATGAT	0.582																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2017-2019)Gag>Aag		coiled-coil domain containing 135							75.0	66.0	69.0					16																	57760786		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57760786G>A																												ENST00000360716.3:c.2017G>A	16.37:g.57760786G>A	ENSP00000353942:p.Glu673Lys					CCDC135_ENST00000336825.8_Missense_Mutation_p.E608K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E673K	p.E673K			Q8IY82	CC135_HUMAN			15	2238	+			673					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2017G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527758	0.44969	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10477	3.04;2.87;3.04	5.2	4.23	0.50019	.	0.445879	0.23676	N	0.045662	T	0.12135	0.0295	L	0.59912	1.85	0.35445	D	0.795219	P;P	0.50617	0.937;0.898	B;B	0.43623	0.425;0.168	T	0.28235	-1.0050	10	0.22109	T	0.4	-32.4249	9.0514	0.36378	0.0821:0.1513:0.7666:0.0	.	608;673	Q8IY82-2;Q8IY82	.;CC135_HUMAN	K	673;608;673	ENSP00000377869:E673K;ENSP00000338938:E608K;ENSP00000353942:E673K	ENSP00000338938:E608K	E	+	1	0	CCDC135	56318287	0.999000	0.42202	0.956000	0.39512	0.757000	0.42996	3.340000	0.52143	1.186000	0.42985	-0.428000	0.05917	GAG		0.582	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			17	34	0	0	0	1	0	17	34				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	166	0	0	0	1	0	7	166				
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143				TPTE2P6_ENST00000440905.1_RNA																							CATCTCTGTACGATGATGTGA	0.358																																						ENST00000453498.1																			0																																																			0							g.chr13:25168471C>T																													13.37:g.25168471C>T														0	1143	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.358	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	80	0	0	0	1	0	4	80				
TTN	7273	broad.mit.edu	37	2	179611166	179611166	+	Intron	SNP	C	C	T	rs397517817		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr2:179611166C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V5321I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTTTAACGTCTTTTTCA	0.363																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15961-15963)Gtt>Att		titin							64.0	58.0	60.0					2																	179611166		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611166C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4518G>A	2.37:g.179611166C>T						TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA	p.V5321I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16183	-			8833			Ig-like 34.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15961G>A		.	.	.	.	.	.	.	.	.	.	C	16.24	3.067909	0.55539	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60040	0.22	5.88	5.88	0.94601	.	.	.	.	.	T	0.70833	0.3269	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.64364	-0.6425	9	0.16896	T	0.51	.	14.3978	0.67022	0.0:0.9299:0.0:0.0701	.	5321	Q8WZ42-6	.	I	5321;602	ENSP00000354117:V5321I	ENSP00000304714:V602I	V	-	1	0	TTN	179319411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.083000	0.71326	2.782000	0.95742	0.655000	0.94253	GTT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	101	0	0	0	1	0	6	101				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	32	0	0	0	1	0	3	32				
LGALS1	3956	broad.mit.edu	37	22	38073059	38073059	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:38073059C>T	ENST00000215909.5	+	2	171	c.76C>T	c.(76-78)Cct>Tct	p.P26S	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	26	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CGAGGTGGCTCCTGACGCTAA	0.657																																					Pancreas(23;406 890 14304 26016)	ENST00000215909.5																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(76-78)Cct>Tct		lectin, galactoside-binding, soluble, 1							82.0	63.0	69.0					22																	38073059		2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38073059C>T		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.76C>T	22.37:g.38073059C>T	ENSP00000215909:p.Pro26Ser					LGALS1_ENST00000489315.1_3'UTR	p.P26S	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN			2	171	+	Melanoma(58;0.0574)		26			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.76C>T	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915089	0.17907	.	.	ENSG00000100097	ENST00000215909	T	0.40756	1.02	5.39	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.491092	0.22403	N	0.060515	T	0.31263	0.0791	L	0.36672	1.1	0.33434	D	0.581565	B	0.12013	0.005	B	0.20577	0.03	T	0.32903	-0.9889	10	0.34782	T	0.22	-9.9716	8.9182	0.35594	0.0:0.8242:0.0:0.1758	.	26	P09382	LEG1_HUMAN	S	26	ENSP00000215909:P26S	ENSP00000215909:P26S	P	+	1	0	LGALS1	36403005	0.008000	0.16893	0.955000	0.39395	0.258000	0.26162	0.330000	0.19715	0.738000	0.32606	-0.136000	0.14681	CCT		0.657	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		24	37	0	0	0	1	0	24	37				
DAPK1	1612	broad.mit.edu	37	9	90283584	90283584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr9:90283584C>T	ENST00000408954.3	+	19	2331	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R666*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	666					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCAAGACTTCGAAAGGTGAG	0.423									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1996-1998)Cga>Tga		death-associated protein kinase 1							238.0	242.0	241.0					9																	90283584		1901	4118	6019	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90283584C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1996C>T	9.37:g.90283584C>T	ENSP00000386135:p.Arg666*					DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R666*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666*	p.R666*			P53355	DAPK1_HUMAN			19	2371	+			666					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.1996C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	40	8.276887	0.98740	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	4.73	1.56	0.23342	.	0.000000	0.40144	N	0.001164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	11.0097	0.47654	0.5896:0.4104:0.0:0.0	.	.	.	.	X	666	.	ENSP00000350785:R666X	R	+	1	2	DAPK1	89473404	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	1.596000	0.36718	0.658000	0.30925	-0.448000	0.05591	CGA		0.423	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		23	270	0	0	0	1	0	23	270				
LMOD3	56203	broad.mit.edu	37	3	69167987	69167987	+	Missense_Mutation	SNP	C	C	T	rs149196259		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:69167987C>T	ENST00000420581.2	-	2	1698	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	LMOD3_ENST00000489031.1_Missense_Mutation_p.E507K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E507K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	507						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTGGTTTTCTCGGGTGGTTCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17579	0.0		0.001	False		,,,				2504	0.0					ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1519-1521)Gag>Aag		leiomodin 3 (fetal)		C	LYS/GLU	1,3985		0,1,1992	99.0	102.0	101.0		1519	5.8	1.0	3	dbSNP_134	101	13,8295		0,13,4141	yes	missense	LMOD3	NM_198271.3	56	0,14,6133	TT,TC,CC		0.1565,0.0251,0.1139	probably-damaging	507/561	69167987	14,12280	1993	4154	6147	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69167987C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1519G>A	3.37:g.69167987C>T	ENSP00000414670:p.Glu507Lys					LMOD3_ENST00000489031.1_Missense_Mutation_p.E507K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E507K	p.E507K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1698	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	507					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1519G>A	CCDS46862.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	28.4	4.918293	0.92249	2.51E-4	0.001565	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.17691	2.26;2.26;2.26	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.09997	-1.0649	10	0.10902	T	0.67	-37.3614	20.1466	0.98079	0.0:1.0:0.0:0.0	.	507	Q0VAK6	LMOD3_HUMAN	K	507	ENSP00000414670:E507K;ENSP00000417210:E507K;ENSP00000418645:E507K	ENSP00000414670:E507K	E	-	1	0	LMOD3	69250677	1.000000	0.71417	0.966000	0.40874	0.897000	0.52465	7.487000	0.81328	2.779000	0.95612	0.591000	0.81541	GAG		0.547	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		32	37	0	0	0	1	0	32	37				
FASTKD5	60493	broad.mit.edu	37	20	3129656	3129656	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr20:3129656C>A	ENST00000380266.3	-	2	382	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	21					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GCACCAAAGGCAGAAGGACTG	0.478																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(61-63)Gcc>Tcc		FAST kinase domains 5							107.0	102.0	104.0					20																	3129656		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129656C>A	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.61G>T	20.37:g.3129656C>A	ENSP00000369618:p.Ala21Ser					UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	p.A21S	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	382	-			21					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.61G>T	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193702	0.38707	.	.	ENSG00000215251	ENST00000380266	T	0.20881	2.04	5.08	0.94	0.19513	.	2.205500	0.02131	N	0.056367	T	0.18087	0.0434	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.27297	-1.0078	10	0.62326	D	0.03	.	5.435	0.16476	0.0:0.6198:0.1449:0.2353	.	21	Q7L8L6	FAKD5_HUMAN	S	21	ENSP00000369618:A21S	ENSP00000369618:A21S	A	-	1	0	FASTKD5	3077656	0.992000	0.36948	0.005000	0.12908	0.033000	0.12548	0.532000	0.23067	0.039000	0.15632	0.462000	0.41574	GCC		0.478	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		4	162	1	0	0.150653	1	0.150653	4	162				
ZDHHC24	254359	broad.mit.edu	37	11	66307297	66307297	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:66307297T>C	ENST00000310442.3	-	3	794		c.e3-2		ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank|CTD-3074O7.12_ENST00000602427.1_lincRNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24							integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						ACACTCTGCCTGCAATAAAAG	0.637																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.e3-2		zinc finger, DHHC-type containing 24							18.0	20.0	20.0					11																	66307297		2199	4294	6493	SO:0001630	splice_region_variant	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307297T>C	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.560-2A>G	11.37:g.66307297T>C						ZDHHC24_ENST00000526986.1_Intron		NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	794	-								Q6PEW7|Q9BSJ0	Splice_Site	SNP	ENST00000310442.3	37		CCDS8143.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014422	0.35511	.	.	ENSG00000174165	ENST00000310442	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5531	0.50731	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZDHHC24	66063873	1.000000	0.71417	0.983000	0.44433	0.109000	0.19521	6.216000	0.72212	1.970000	0.57323	0.459000	0.35465	.		0.637	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340	Intron	15	33	0	0	0	1	0	15	33				
ZNF184	7738	broad.mit.edu	37	6	27420565	27420565	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:27420565G>C	ENST00000211936.6	-	6	1057	c.773C>G	c.(772-774)gCc>gGc	p.A258G	ZNF184_ENST00000377419.1_Missense_Mutation_p.A258G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCGGCTGAAGGCTTTTTCACA	0.378																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(772-774)gCc>gGc		zinc finger protein 184							112.0	118.0	116.0					6																	27420565		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420565G>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.773C>G	6.37:g.27420565G>C	ENSP00000211936:p.Ala258Gly					ZNF184_ENST00000377419.1_Missense_Mutation_p.A258G	p.A258G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1057	-			258					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.773C>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356708	0.41801	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.01043	5.41;5.41	4.99	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000234	T	0.00845	0.0028	L	0.33339	1.005	0.29464	N	0.857512	P	0.42518	0.782	P	0.51866	0.682	T	0.53823	-0.8384	10	0.48119	T	0.1	.	6.6321	0.22863	0.0967:0.3108:0.5924:0.0	.	258	Q99676	ZN184_HUMAN	G	258	ENSP00000211936:A258G;ENSP00000366636:A258G	ENSP00000211936:A258G	A	-	2	0	ZNF184	27528544	0.000000	0.05858	1.000000	0.80357	0.735000	0.41995	-0.039000	0.12124	2.591000	0.87537	0.455000	0.32223	GCC		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		27	215	0	0	0	1	0	27	215				
CD163L1	283316	broad.mit.edu	37	12	7528426	7528426	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:7528426T>G	ENST00000313599.3	-	10	2613	c.2556A>C	c.(2554-2556)aaA>aaC	p.K852N	CD163L1_ENST00000396630.1_Missense_Mutation_p.K852N|CD163L1_ENST00000416109.2_Missense_Mutation_p.K862N|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	852	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACCATTCCCTTTTCCAAAGT	0.448																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2554-2556)aaA>aaC		CD163 molecule-like 1							120.0	108.0	112.0					12																	7528426		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528426T>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2556A>C	12.37:g.7528426T>G	ENSP00000315945:p.Lys852Asn					CD163L1_ENST00000416109.2_Missense_Mutation_p.K862N|CD163L1_ENST00000396630.1_Missense_Mutation_p.K852N|CD163L1_ENST00000544331.1_5'UTR	p.K852N			Q9NR16	C163B_HUMAN			10	2613	-			852			SRCR 8.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2556A>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	9.381	1.073018	0.20147	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.84	1.62	0.23740	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.982847	0.08260	N	0.973226	T	0.23846	0.0577	N	0.20610	0.595	0.09310	N	0.999994	B;B	0.20261	0.043;0.043	B;B	0.25987	0.038;0.065	T	0.32188	-0.9916	10	0.39692	T	0.17	.	5.5243	0.16949	0.4552:0.0:0.0:0.5448	.	862;852	E7EVK4;Q9NR16	.;C163B_HUMAN	N	852;862;852	ENSP00000315945:K852N;ENSP00000393474:K862N;ENSP00000379871:K852N	ENSP00000315945:K852N	K	-	3	2	CD163L1	7419693	0.000000	0.05858	0.013000	0.15412	0.036000	0.12997	-0.151000	0.10175	0.287000	0.22375	0.374000	0.22700	AAA		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		55	91	0	0	0	1	0	55	91				
ZNF74	7625	broad.mit.edu	37	22	20761037	20761037	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:20761037A>G	ENST00000400451.2	+	5	2228	c.1714A>G	c.(1714-1716)Act>Gct	p.T572A	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.T540A|ZNF74_ENST00000356671.5_Missense_Mutation_p.T572A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	572					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCGCACCTCACTGAGCACCA	0.542																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1714-1716)Act>Gct		zinc finger protein 74							53.0	60.0	58.0					22																	20761037		2138	4275	6413	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761037A>G	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1714A>G	22.37:g.20761037A>G	ENSP00000383301:p.Thr572Ala					ZNF74_ENST00000405993.1_Missense_Mutation_p.T540A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.T572A	p.T572A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	2228	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	572					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1714A>G	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	A	4.939	0.174408	0.09391	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.51325	0.71;0.71;0.71	4.27	-8.54	0.00912	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.405350	0.00744	N	0.001023	T	0.34221	0.0890	L	0.39514	1.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	10	0.39692	T	0.17	1.9454	6.1049	0.20067	0.1306:0.3266:0.4748:0.0681	.	572	Q16587	ZNF74_HUMAN	A	572;572;540	ENSP00000383301:T572A;ENSP00000349098:T572A;ENSP00000385855:T540A	ENSP00000349098:T572A	T	+	1	0	ZNF74	19091037	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.426000	0.00475	-3.239000	0.00207	-1.046000	0.02355	ACT		0.542	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		50	66	0	0	0	1	0	50	66				
ARV1	64801	broad.mit.edu	37	1	231131566	231131567	+	Frame_Shift_Ins	INS	-	-	A	rs544784472	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr1:231131566_231131567insA	ENST00000310256.2	+	4	566_567	c.509_510insA	c.(508-513)gcaaaafs	p.AK170fs	ARV1_ENST00000366658.2_Frame_Shift_Ins_p.AK130fs|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCCATGACGGCAAAAAAAAAGC	0.381													GAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|complex_insertion	4	0.000798722	0.0	0.0	5008	,	,		16943	0.001		0.001	False		,,,				2504	0.002					ENST00000310256.2																			0				breast(3)|large_intestine(2)|lung(2)	7						c.(508-510)gaafs		ARV1 homolog (S. cerevisiae)				6,4260		0,6,2127						-1.7	0.0			80	7,8247		0,7,4120	no	frameshift	ARV1	NM_022786.1		0,13,6247	A1A1,A1R,RR		0.0848,0.1406,0.1038				13,12507				SO:0001589	frameshift_variant	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231131566_231131567insA	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.518dupA	1.37:g.231131575_231131575dupA	ENSP00000312458:p.Ala170fs					ARV1_ENST00000366658.2_Frame_Shift_Ins_p.E130fs|ARV1_ENST00000497753.1_3'UTR	p.E170fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	4	566_567	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	170					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Ins	INS	ENST00000310256.2	37	c.509_510insA	CCDS1589.1																																																																																				0.381	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		7	183						7	183	---	---	---	---
CPHL1P	389160	broad.mit.edu	37	3	148999032	148999033	+	RNA	INS	-	-	GAA	rs397825074|rs368617671|rs10639126	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:148999032_148999033insGAA	ENST00000482639.2	-	0	195									ceruloplasmin and hephaestin-like 1 pseudogene																		GGGAAGACACTGAACAGtaaga	0.5														2398	0.478834	0.7988	0.549	5008	,	,		18763	0.37		0.339	False		,,,				2504	0.2526					ENST00000482639.2																			0																																																			0							g.chr3:148999032_148999033insGAA			3q25.1	2010-10-13	2010-10-13	2010-10-13	ENSG00000240216	ENSG00000240216			31714	pseudogene	pseudogene			"""ceruloplasmin and hephaestin-like 1"""	CPHL1			Standard	NG_022938		Approved				OTTHUMG00000159584		3.37:g.148999033_148999035dupGAA														0	195	-									RNA	INS	ENST00000482639.2	37																																																																																						0.500	CPHL1P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356325.2	NG_022938		2	4						2	4	---	---	---	---
RRAGD	58528	broad.mit.edu	37	6	90097209	90097210	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:90097209_90097210delAA	ENST00000369415.4	-	2	524_525	c.248_249delTT	c.(247-249)tttfs	p.F83fs	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ACATTTTGTGAAAGACAACTTT	0.465																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(247-249)tfs		Ras-related GTP binding D																																				SO:0001589	frameshift_variant	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097209_90097210delAA	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.248_249delTT	6.37:g.90097209_90097210delAA	ENSP00000358423:p.Phe83fs					RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	p.F83fs	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	524_525	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	83						Frame_Shift_Del	DEL	ENST00000369415.4	37	c.248_249delTT	CCDS5022.1																																																																																				0.465	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		208	395						208	395	---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66236880	66236882	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr7:66236880_66236882delGAA	ENST00000439720.2	+	2	200_202	c.33_35delGAA	c.(31-36)aggaag>agg	p.K13del	RABGEF1_ENST00000284957.5_5'UTR|KCTD7_ENST00000451741.2_5'UTR|RABGEF1_ENST00000450873.2_5'UTR|KCTD7_ENST00000510829.2_5'UTR|KCTD7_ENST00000380828.2_5'UTR|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_In_Frame_Del_p.K14del			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	138					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TGGTTAGCAGGAAGAAGATGAGC	0.404																																						ENST00000439720.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						c.(31-36)agg>ag		RAB guanine nucleotide exchange factor (GEF) 1																																				SO:0001651	inframe_deletion	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66236880_66236882delGAA	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000439720.2:c.33_35delGAA	7.37:g.66236883_66236885delGAA	ENSP00000403429:p.Lys13del					KCTD7_ENST00000380828.2_5'UTR|KCTD7_ENST00000510829.2_5'UTR|RABGEF1_ENST00000450873.2_5'UTR|RABGEF1_ENST00000284957.5_5'UTR|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_5'UTR|RABGEF1_ENST00000437078.2_In_Frame_Del_p.RK12del	p.RK11del			Q9UJ41	RABX5_HUMAN			2	200_202	+			136					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	In_Frame_Del	DEL	ENST00000439720.2	37	c.33_35delGAA																																																																																					0.404	RABGEF1-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000345649.2	NM_014504		7	133						7	133	---	---	---	---
LOC105375875	105375875	broad.mit.edu	37	8	64322187	64322188	+	lincRNA	INS	-	-	A	rs34341678	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr8:64322187_64322188insA	ENST00000521221.1	-	0	694																											TGCTCCTGGTTAAAAAAAAAAA	0.48																																						ENST00000521221.1																			0																																																			0							g.chr8:64322187_64322188insA																													8.37:g.64322198_64322198dupA														0	694	-									RNA	INS	ENST00000521221.1	37																																																																																						0.480	CTD-3046C4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378589.1			2	4						2	4	---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7024038	7024039	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:7024038_7024039delAT	ENST00000278314.4	-	2	343_344	c.28_29delAT	c.(28-30)attfs	p.I11fs	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Frame_Shift_Del_p.I11fs	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	11	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGTAAAAATAATAGTCACATCT	0.381																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(28-30)tfs		zinc finger protein 214																																				SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7024038_7024039delAT	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.28_29delAT	11.37:g.7024038_7024039delAT	ENSP00000278314:p.Ile11fs					ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Frame_Shift_Del_p.I11fs	p.I11fs	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	2	343_344	-			11			KRAB.		B2R8Q1	Frame_Shift_Del	DEL	ENST00000278314.4	37	c.28_29delAT	CCDS31418.1																																																																																				0.381	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			60	119						60	119	---	---	---	---
CHST11	50515	broad.mit.edu	37	12	104851291	104851294	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:104851291_104851294delAAGT	ENST00000303694.5	+	1	541_544	c.102_105delAAGT	c.(100-105)caaagtfs	p.QS34fs	CHST11_ENST00000546689.1_Splice_Site_p.S35fs|CHST11_ENST00000547956.1_Frame_Shift_Del_p.QS34fs|CHST11_ENST00000549260.1_Splice_Site_p.S35fs	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	34					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCTATTTCCAAAGTATGTTGCACC	0.52																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(100-105)cafs		carbohydrate (chondroitin 4) sulfotransferase 11																																				SO:0001589	frameshift_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:104851291_104851294delAAGT	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.102_105delAAGT	12.37:g.104851291_104851294delAAGT	ENSP00000305725:p.Gln34fs					CHST11_ENST00000549260.1_Splice_Site_p.Q34_splice|CHST11_ENST00000546689.1_Splice_Site_p.Q34_splice|CHST11_ENST00000547956.1_Frame_Shift_Del_p.QS34fs	p.QS34fs	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			1	541_544	+			34					A8K4F8|Q9NXY6|Q9NY36	Frame_Shift_Del	DEL	ENST00000303694.5	37	c.102_105delAAGT	CCDS9099.1																																																																																				0.520	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		8	294						8	294	---	---	---	---
RP11-260M19.2	0	broad.mit.edu	37	14	104706030	104706030	+	lincRNA	DEL	G	G	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr14:104706030delG	ENST00000555282.1	+	0	203																											CCAAGGCCTTGGAGGTGGTGG	0.667																																						ENST00000555282.1																			0																																																			0							g.chr14:104706030delG																													14.37:g.104706030delG														0	203	+									RNA	DEL	ENST00000555282.1	37																																																																																						0.667	RP11-260M19.2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414327.1			2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42790954	42790955	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42790954_42790955delTG	ENST00000575354.2	+	2	139_140	c.99_100delTG	c.(97-102)gctgtgfs	p.V34fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V943fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V34fs|CIC_ENST00000575839.2_3'UTR	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	34	Interaction with ATXN1. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTCTGTGGCTGTGTTCCCTTG	0.644			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(2824-2829)gctgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42790954_42790955delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.99_100delTG	19.37:g.42790956_42790957delTG	ENSP00000458663:p.Val34fs					CIC_ENST00000575839.2_3'UTR|CIC_ENST00000160740.3_Frame_Shift_Del_p.AV33fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.AV33fs	p.AV942fs			Q96RK0	CIC_HUMAN			3	2894_2895	+		Prostate(69;0.00682)	33			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.2826_2827delTG	CCDS12601.1																																																																																				0.644	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	52						18	52	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46476609	46476610	+	Start_Codon_Ins	INS	-	-	G			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:46476609_46476610insG	ENST00000263257.5	-	0	194_195				NOVA2_ENST00000599462.1_5'Flank	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2						regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCGGGCTCCATGGGGGGGGCCT	0.762																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21								neuro-oncological ventral antigen 2																																				SO:0001582	initiator_codon_variant	4858					nucleus	RNA binding	g.chr19:46476609_46476610insG	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.2dupC	19.37:g.46476617_46476617dupG								NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	0	194_195	-		all_neural(266;0.113)|Ovarian(192;0.127)						O43267|Q9UEA1	Translation_Start_Site	INS	ENST00000263257.5	37		CCDS12679.1																																																																																				0.762	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		3	3						3	3	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21196122	21196123	+	RNA	DEL	AA	AA	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr20:21196122_21196123delAA	ENST00000591761.1	-	0	119				PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA																							TACATTAACCAAAAAAAAAAAA	0.248																																						ENST00000591761.1																			0																																																			0							g.chr20:21196122_21196123delAA																													20.37:g.21196132_21196133delAA						RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA								0	119	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.248	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	2						3	2	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73061239	73061241	+	lincRNA	DEL	TCT	TCT	-			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:73061239_73061241delTCT	ENST00000429829.1	-	0	11347_11349					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGCCAGAGACTCTTCTTTACAGC	0.394																																						ENST00000429829.1																			0																																																			0							g.chrX:73061239_73061241delTCT	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061242_73061244delTCT								NR_001564.2						0	11347_11349	-									RNA	DEL	ENST00000429829.1	37																																																																																						0.394	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		15	65						15	65	---	---	---	---
