#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
FBXO18	84893	broad.mit.edu	37	10	5960389	5960389	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr10:5960389C>T	ENST00000362091.4	+	13	2163	c.2048C>T	c.(2047-2049)gCg>gTg	p.A683V	FBXO18_ENST00000379999.5_Missense_Mutation_p.A734V|FBXO18_ENST00000397269.3_Missense_Mutation_p.A170V	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	683					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTCCGGGGTGCGGTCAACGCC	0.537																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(2200-2202)gCg>gTg		F-box protein, helicase, 18							143.0	129.0	134.0					10																	5960389		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5960389C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2048C>T	10.37:g.5960389C>T	ENSP00000355415:p.Ala683Val					FBXO18_ENST00000397269.3_Missense_Mutation_p.A170V|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000362091.4_Missense_Mutation_p.A683V	p.A734V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			14	2305	+			683					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.2201C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493010	0.96339	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.85861	-2.04;-2.04;-2.04	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.95359	0.8454	10	0.87932	D	0	-18.3975	19.8834	0.96906	0.0:1.0:0.0:0.0	.	734;683;609	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	V	170;683;734	ENSP00000380439:A170V;ENSP00000355415:A683V;ENSP00000369335:A734V	ENSP00000355415:A683V	A	+	2	0	FBXO18	6000395	1.000000	0.71417	0.496000	0.27539	0.918000	0.54935	6.934000	0.75880	2.791000	0.96007	0.650000	0.86243	GCG		0.537	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		4	105	0	0	0	1	0	4	105				
BRE	9577	broad.mit.edu	37	2	28550178	28550178	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:28550178G>A	ENST00000344773.2	+	12	1264	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	BRE_ENST00000361704.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron	NM_004899.4	NP_004890.2			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAGCCCGTGGGAGCAAGTCCT	0.617																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1126-1128)Gag>Aag		brain and reproductive organ-expressed (TNFRSF1A modulator)							64.0	72.0	69.0					2																	28550178		2203	4300	6503	SO:0001583	missense	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28550178G>A	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000344773.2:c.1126G>A	2.37:g.28550178G>A	ENSP00000343412:p.Glu376Lys					BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron	p.E376K	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			12	1264	+	Acute lymphoblastic leukemia(172;0.155)		0						Missense_Mutation	SNP	ENST00000344773.2	37	c.1126G>A	CCDS1764.1	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981409	0.18812	.	.	ENSG00000158019	ENST00000344773	.	.	.	2.04	0.0234	0.14137	.	.	.	.	.	T	0.20047	0.0482	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.12837	0.008	T	0.20338	-1.0278	7	0.36615	T	0.2	2.9872	2.4169	0.04438	0.1813:0.0:0.5257:0.2931	.	376	Q9NXR7-1	.	K	376	.	ENSP00000343412:E376K	E	+	1	0	BRE	28403682	0.000000	0.05858	0.000000	0.03702	0.476000	0.33039	0.039000	0.13884	-0.002000	0.14469	0.305000	0.20034	GAG		0.617	BRE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215111.1			25	44	0	0	0	1	0	25	44				
DNAH8	1769	broad.mit.edu	37	6	38881624	38881624	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:38881624G>A	ENST00000359357.3	+	65	9462		c.e65-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTTGTAAAGGTCTTGATAA	0.358																																						ENST00000359357.3																			2	Unknown(2)	p.?(2)	skin(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e65-1		dynein, axonemal, heavy chain 8							107.0	105.0	106.0					6																	38881624		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38881624G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9209-1G>A	6.37:g.38881624G>A						DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site								65	9462	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	G	28.3	4.909478	0.92107	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38989602	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.675000	0.98638	2.894000	0.99253	0.655000	0.94253	.		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	11	34	0	0	0	1	0	11	34				
GANC	2595	broad.mit.edu	37	15	42614135	42614135	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:42614135G>A	ENST00000318010.8	+	11	1450	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	404					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCACACTGAGGGCAAGAGGTA	0.463																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1210-1212)Ggc>Agc		glucosidase, alpha; neutral C							121.0	96.0	105.0					15																	42614135		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42614135G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1210G>A	15.37:g.42614135G>A	ENSP00000326227:p.Gly404Ser						p.G404S	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	11	1450	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	404					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1210G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240399	0.95240	.	.	ENSG00000214013	ENST00000318010	D	0.95690	-3.78	5.47	5.47	0.80525	Glycoside hydrolase, superfamily (1);	0.152935	0.56097	D	0.000022	D	0.96555	0.8876	M	0.79614	2.46	0.58432	D	0.999995	P	0.48407	0.91	P	0.50162	0.633	D	0.96356	0.9262	10	0.49607	T	0.09	-6.9399	19.3311	0.94288	0.0:0.0:1.0:0.0	.	404	Q8TET4	GANC_HUMAN	S	404	ENSP00000326227:G404S	ENSP00000326227:G404S	G	+	1	0	GANC	40401427	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	6.691000	0.74573	2.565000	0.86533	0.655000	0.94253	GGC		0.463	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		9	13	0	0	0	1	0	9	13				
ASB12	142689	broad.mit.edu	37	X	63445429	63445429	+	Silent	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:63445429C>T	ENST00000396130.2	-	1	74	c.75G>A	c.(73-75)gaG>gaA	p.E25E	MTMR8_ENST00000453546.1_Silent_p.E409E|ASB12_ENST00000362002.2_Silent_p.E34E			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	25					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						CCTGCTTCTCCTCTGTGTCAG	0.493																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1225-1227)gaG>gaA		myotubularin related protein 8							78.0	59.0	65.0					X																	63445429		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445429C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.75G>A	X.37:g.63445429C>T						ASB12_ENST00000396130.2_Silent_p.E25E|ASB12_ENST00000362002.2_Silent_p.E34E	p.E409E			Q96EF0	MTMR8_HUMAN			10	1316	-			0			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.1227G>A																																																																																					0.493	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	19	0	0	0	1	0	3	19				
SLFN11	91607	broad.mit.edu	37	17	33679950	33679950	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr17:33679950C>G	ENST00000394566.1	-	7	2403	c.2131G>C	c.(2131-2133)Gat>Cat	p.D711H	SLFN11_ENST00000308377.4_Missense_Mutation_p.D711H	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	711					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTGCAATCCAAGTGGCTG	0.483																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2131-2133)Gat>Cat		schlafen family member 11							116.0	121.0	119.0					17																	33679950		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679950C>G	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2131G>C	17.37:g.33679950C>G	ENSP00000378067:p.Asp711His					SLFN11_ENST00000308377.4_Missense_Mutation_p.D711H	p.D711H	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2403	-		Ovarian(249;0.17)	711					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2131G>C	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	6.901	0.535747	0.13188	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.86865	-2.18;-2.18	4.0	-4.99	0.03010	.	1.799170	0.02834	N	0.127071	T	0.78368	0.4272	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.58730	-0.7585	10	0.40728	T	0.16	.	1.6976	0.02865	0.1423:0.2648:0.1393:0.4536	.	711	Q7Z7L1	SLN11_HUMAN	H	711	ENSP00000312402:D711H;ENSP00000378067:D711H	ENSP00000312402:D711H	D	-	1	0	SLFN11	30704063	0.000000	0.05858	0.014000	0.15608	0.371000	0.29859	-1.281000	0.02802	-1.169000	0.02772	-1.830000	0.00593	GAT		0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		48	65	0	0	0	1	0	48	65				
POTEA	340441	broad.mit.edu	37	8	43147783	43147783	+	RNA	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:43147783C>T	ENST00000522175.2	+	0	158							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACGACGACAGCGCCTTCACGG	0.607																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							66.0	70.0	69.0					8																	43147783		2203	4300	6503			340441							g.chr8:43147783C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147783C>T										Q6S8J7	POTEA_HUMAN			0	158	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.607	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		23	50	0	0	0	1	0	23	50				
WWP1	11059	broad.mit.edu	37	8	87470169	87470169	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:87470169A>G	ENST00000517970.1	+	22	2721	c.2414A>G	c.(2413-2415)cAg>cGg	p.Q805R	WWP1_ENST00000265428.4_Missense_Mutation_p.Q805R|WWP1_ENST00000341922.2_Missense_Mutation_p.Q675R|WWP1_ENST00000349423.2_Missense_Mutation_p.Q587R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	805	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTGGCATGCAGGAGGTTGAC	0.373																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2413-2415)cAg>cGg		WW domain containing E3 ubiquitin protein ligase 1							169.0	151.0	157.0					8																	87470169		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87470169A>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2414A>G	8.37:g.87470169A>G	ENSP00000427793:p.Gln805Arg					WWP1_ENST00000349423.2_Missense_Mutation_p.Q587R|WWP1_ENST00000265428.4_Missense_Mutation_p.Q805R|WWP1_ENST00000341922.2_Missense_Mutation_p.Q675R	p.Q805R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			22	2721	+			805			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2414A>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215265	0.79352	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.9	4.9	0.64082	HECT (4);	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.62544	-0.6832	10	0.62326	D	0.03	.	14.5539	0.68086	1.0:0.0:0.0:0.0	.	805	Q9H0M0	WWP1_HUMAN	R	805;805;675;587	ENSP00000427793:Q805R;ENSP00000265428:Q805R;ENSP00000340564:Q675R;ENSP00000342665:Q587R	ENSP00000265428:Q805R	Q	+	2	0	WWP1	87539285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.162000	0.94745	1.842000	0.53543	0.477000	0.44152	CAG		0.373	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		29	43	0	0	0	1	0	29	43				
TGM5	9333	broad.mit.edu	37	15	43527804	43527804	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:43527804A>G	ENST00000220420.5	-	10	1584	c.1577T>C	c.(1576-1578)gTc>gCc	p.V526A	TGM5_ENST00000349114.4_Missense_Mutation_p.V444A	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	526					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCCAGCAGGACAAAGCATAT	0.567																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1576-1578)gTc>gCc		transglutaminase 5	L-Glutamine(DB00130)						101.0	81.0	87.0					15																	43527804		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527804A>G	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1577T>C	15.37:g.43527804A>G	ENSP00000220420:p.Val526Ala					TGM5_ENST00000349114.4_Missense_Mutation_p.V444A	p.V526A	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1584	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	526					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1577T>C	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.352464	0.01256	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68903	-0.36;-0.36	5.58	3.28	0.37604	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.305350	0.31381	N	0.007754	T	0.43055	0.1230	N	0.20483	0.58	0.29222	N	0.873841	B;B	0.25719	0.114;0.132	B;B	0.27500	0.061;0.08	T	0.38351	-0.9665	10	0.05351	T	0.99	-22.3449	7.2404	0.26094	0.8237:0.0:0.1763:0.0	.	444;526	O43548-2;O43548	.;TGM5_HUMAN	A	526;444;525	ENSP00000220420:V526A;ENSP00000220419:V444A	ENSP00000220420:V526A	V	-	2	0	TGM5	41315096	0.328000	0.24687	0.996000	0.52242	0.088000	0.18126	0.858000	0.27845	0.410000	0.25675	-0.274000	0.10170	GTC		0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	20	0	0	0	1	0	11	20				
RALGAPB	57148	broad.mit.edu	37	20	37153542	37153542	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr20:37153542G>A	ENST00000262879.6	+	11	2025	c.1741G>A	c.(1741-1743)Gtg>Atg	p.V581M	RALGAPB_ENST00000397040.1_Missense_Mutation_p.V581M|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V581M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V359M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	581					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATTGATGTTGTGGTTCCTTA	0.408																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1741-1743)Gtg>Atg		Ral GTPase activating protein, beta subunit (non-catalytic)							300.0	276.0	284.0					20																	37153542		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153542G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1741G>A	20.37:g.37153542G>A	ENSP00000262879:p.Val581Met					RALGAPB_ENST00000397042.3_Missense_Mutation_p.V581M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V581M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V359M	p.V581M			Q86X10	RLGPB_HUMAN			11	2025	+			581					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1741G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867695	0.72065	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.68765	-0.35;-0.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.41131	0.571;0.739;0.739;0.739	B;B;B;B	0.39419	0.17;0.299;0.299;0.299	T	0.68769	-0.5321	10	0.87932	D	0	.	15.0702	0.72030	0.0:0.0:0.8575:0.1425	.	409;581;581;581	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	M	581;581;581;359;581;409	ENSP00000262879:V581M;ENSP00000380233:V581M	ENSP00000262879:V581M	V	+	1	0	RALGAPB	36586956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	2.587000	0.87381	0.561000	0.74099	GTG		0.408	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		51	99	0	0	0	1	0	51	99				
MAL	4118	broad.mit.edu	37	2	95713828	95713828	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713828A>G	ENST00000309988.4	+	2	327	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	MAL_ENST00000354078.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.Y73C|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	73	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		ATCATCCTGTACATAATTGGA	0.622																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(217-219)tAc>tGc		mal, T-cell differentiation protein							103.0	93.0	96.0					2																	95713828		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713828A>G		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.218A>G	2.37:g.95713828A>G	ENSP00000310880:p.Tyr73Cys					MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.Y73C	p.Y73C	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	327	+			73			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.218A>G	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032609	0.54790	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.50548	1.44;0.74	5.77	5.77	0.91146	Marvel (1);MARVEL-like domain (1);	0.050562	0.85682	D	0.000000	T	0.72350	0.3449	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77422	-0.2594	10	0.62326	D	0.03	.	12.4895	0.55891	1.0:0.0:0.0:0.0	.	73;73	P21145-2;P21145	.;MAL_HUMAN	C	73	ENSP00000310880:Y73C;ENSP00000306568:Y73C	ENSP00000310880:Y73C	Y	+	2	0	MAL	95077555	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	5.602000	0.67612	2.215000	0.71742	0.459000	0.35465	TAC		0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		10	31	0	0	0	1	0	10	31				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	25	0	0	0	1	0	5	25				
ITSN1	6453	broad.mit.edu	37	21	35154325	35154325	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr21:35154325C>G	ENST00000381318.3	+	16	2000	c.1712C>G	c.(1711-1713)gCc>gGc	p.A571G	ITSN1_ENST00000399349.1_Missense_Mutation_p.A571G|ITSN1_ENST00000437442.2_Missense_Mutation_p.A571G|ITSN1_ENST00000399355.2_Missense_Mutation_p.A571G|ITSN1_ENST00000381285.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399326.3_Missense_Mutation_p.A571G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.A534G|ITSN1_ENST00000399338.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399367.3_Missense_Mutation_p.A571G|ITSN1_ENST00000379960.5_Missense_Mutation_p.A571G|ITSN1_ENST00000381291.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399352.1_Missense_Mutation_p.A571G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	571	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTTAAAAGAGCCTTAGAAGCA	0.348																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(1711-1713)gCc>gGc		intersectin 1 (SH3 domain protein)							75.0	76.0	75.0					21																	35154325		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35154325C>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1712C>G	21.37:g.35154325C>G	ENSP00000370719:p.Ala571Gly					ITSN1_ENST00000399353.1_Missense_Mutation_p.A534G|ITSN1_ENST00000399355.2_Missense_Mutation_p.A571G|ITSN1_ENST00000399367.3_Missense_Mutation_p.A571G|ITSN1_ENST00000399338.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399326.3_Missense_Mutation_p.A571G|ITSN1_ENST00000437442.2_Missense_Mutation_p.A571G|ITSN1_ENST00000381285.4_Missense_Mutation_p.A571G|ITSN1_ENST00000381291.4_Missense_Mutation_p.A571G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Missense_Mutation_p.A571G|ITSN1_ENST00000399349.1_Missense_Mutation_p.A571G|ITSN1_ENST00000399352.1_Missense_Mutation_p.A571G	p.A571G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			16	2000	+			571			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1712C>G	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739072	0.89573	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.53;2.49;2.49;2.49;1.53;1.53;2.49;1.53;1.53;1.53;1.53;0.92	5.81	5.81	0.92471	.	0.054858	0.64402	D	0.000001	T	0.57562	0.2062	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D;D;B;D	0.76494	0.999;0.999;0.99;0.995;0.992;0.999;0.995;0.995;0.189;0.999	D;D;P;D;P;P;P;P;B;D	0.68765	0.96;0.942;0.76;0.93;0.793;0.883;0.844;0.844;0.214;0.942	T	0.45571	-0.9252	10	0.28530	T	0.3	.	20.0787	0.97763	0.0:1.0:0.0:0.0	.	534;534;534;571;571;571;571;571;571;534	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	G	534;571;571;571;571;571;571;571;571;571;571;571;571;571	ENSP00000382290:A534G;ENSP00000370719:A571G;ENSP00000370691:A571G;ENSP00000370685:A571G;ENSP00000382301:A571G;ENSP00000382289:A571G;ENSP00000382292:A571G;ENSP00000382286:A571G;ENSP00000382275:A571G;ENSP00000387377:A571G;ENSP00000382265:A571G;ENSP00000369294:A571G	ENSP00000369294:A571G	A	+	2	0	ITSN1	34076195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.659000	0.61504	2.750000	0.94351	0.637000	0.83480	GCC		0.348	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		13	26	0	0	0	1	0	13	26				
MLLT4	4301	broad.mit.edu	37	6	168281192	168281192	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:168281192G>T	ENST00000447894.2	+	6	892	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	MLLT4_ENST00000344191.4_Missense_Mutation_p.A298S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298S|MLLT4_ENST00000366806.2_Missense_Mutation_p.A298S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(892-894)Gcc>Tcc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99.0	110.0	106.0					6																	168281192		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168281192G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.892G>T	6.37:g.168281192G>T	ENSP00000404595:p.Ala298Ser					MLLT4_ENST00000351017.4_Missense_Mutation_p.A298S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297S	p.A298S			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	6	1034	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	298			Ras-associating 2.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.892G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.030669|4.030669	0.75504|0.75504	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.057014|.	0.64402|.	D|.	0.000001|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999995|0.999995	B;B;B|.	0.33266|.	0.404;0.113;0.113|.	P;P;B|.	0.47573|.	0.55;0.507;0.438|.	T|T	0.57376|0.57376	-0.7822|-0.7822	10|5	0.62326|.	D|.	0.03|.	-8.2159|-8.2159	18.8279|18.8279	0.92125|0.92125	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297;298;297|.	P55196-5;P55196-6;P55196-2|.	.;.;.|.	S|L	298;298;298;298;297;298;297;298|11	ENSP00000341118:A298S;ENSP00000252692:A298S;ENSP00000375956:A298S;ENSP00000355771:A298S;ENSP00000375960:A297S;ENSP00000383623:A297S;ENSP00000404595:A298S|.	ENSP00000345834:A298S|.	A|R	+|+	1|2	0|0	MLLT4|MLLT4	168024041|168024041	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.589000|0.589000	0.36550|0.36550	7.109000|7.109000	0.77062|0.77062	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.383	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		24	65	1	0	1.10923e-09	1	1.20167e-09	24	65				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	27	0	0	0	1	0	3	27				
CXorf23	256643	broad.mit.edu	37	X	19983717	19983717	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:19983717G>T	ENST00000379682.4	-	3	752	c.719C>A	c.(718-720)cCt>cAt	p.P240H	CXorf23_ENST00000379687.3_Missense_Mutation_p.P240H|CXorf23_ENST00000356980.3_Missense_Mutation_p.P240H			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	240						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GGAATGCTCAGGCTTCCACTT	0.502																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(718-720)cCt>cAt		chromosome X open reading frame 23							133.0	125.0	127.0					X																	19983717		1960	4110	6070	SO:0001583	missense	256643					mitochondrion		g.chrX:19983717G>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.719C>A	X.37:g.19983717G>T	ENSP00000369004:p.Pro240His					CXorf23_ENST00000379682.4_Missense_Mutation_p.P240H|CXorf23_ENST00000356980.3_Missense_Mutation_p.P240H	p.P240H	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			3	752	-			240					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.719C>A		.	.	.	.	.	.	.	.	.	.	G	13.86	2.363004	0.41902	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.14640	2.49;2.49;2.49	5.24	4.26	0.50523	.	.	.	.	.	T	0.12561	0.0305	N	0.19112	0.55	0.09310	N	1	P;D	0.53151	0.925;0.958	P;P	0.50378	0.639;0.639	T	0.13176	-1.0519	8	.	.	.	.	6.9776	0.24686	0.1053:0.0:0.6796:0.2152	.	240;240	A2AJT9-2;A2AJT9	.;CX023_HUMAN	H	240;240;240;128	ENSP00000369009:P240H;ENSP00000369004:P240H;ENSP00000349470:P240H	.	P	-	2	0	CXorf23	19893638	0.195000	0.23338	0.543000	0.28128	0.937000	0.57800	2.226000	0.42963	0.927000	0.37143	0.550000	0.68814	CCT		0.502	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		4	95	1	0	0.000602214	1	0.000626303	4	95				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	58	0	0	0	1	0	3	58				
MAL	4118	broad.mit.edu	37	2	95713830	95713830	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713830A>G	ENST00000309988.4	+	2	329	c.220A>G	c.(220-222)Ata>Gta	p.I74V	MAL_ENST00000354078.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.I74V|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	74	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.I74V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CATCCTGTACATAATTGGAGC	0.622																																						ENST00000309988.4																			1	Substitution - Missense(1)	p.I74V(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(220-222)Ata>Gta		mal, T-cell differentiation protein							104.0	93.0	97.0					2																	95713830		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713830A>G		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.220A>G	2.37:g.95713830A>G	ENSP00000310880:p.Ile74Val					MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.I74V	p.I74V	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	329	+			74			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.220A>G	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	A	1.702	-0.501229	0.04261	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.41758	1.9;0.99	5.77	0.0503	0.14293	Marvel (1);MARVEL-like domain (1);	0.703683	0.15149	N	0.277817	T	0.18759	0.0450	N	0.13140	0.3	0.45035	D	0.998055	B;B	0.09022	0.002;0.002	B;B	0.14023	0.004;0.01	T	0.09796	-1.0658	10	0.21540	T	0.41	.	1.942	0.03348	0.5035:0.2424:0.0939:0.1602	.	74;74	P21145-2;P21145	.;MAL_HUMAN	V	74	ENSP00000310880:I74V;ENSP00000306568:I74V	ENSP00000310880:I74V	I	+	1	0	MAL	95077557	0.033000	0.19621	0.100000	0.21137	0.487000	0.33371	0.086000	0.14935	-0.141000	0.11374	-1.785000	0.00643	ATA		0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		9	31	0	0	0	1	0	9	31				
XIRP2	129446	broad.mit.edu	37	2	168115434	168115434	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:168115434T>A	ENST00000409728.1	+	11	2566	c.2477T>A	c.(2476-2478)gTg>gAg	p.V826E	XIRP2_ENST00000409043.1_Missense_Mutation_p.V793E|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.V793E|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGCAGTCCTGTGCAGCCTGCT	0.443																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2476-2478)gTg>gAg		xin actin-binding repeat containing 2							29.0	29.0	29.0					2																	168115434		1858	4103	5961	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115434T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2477T>A	2.37:g.168115434T>A	ENSP00000386619:p.Val826Glu					XIRP2_ENST00000409756.2_Missense_Mutation_p.V793E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.V793E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826E|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571E	p.V826E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2566	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.2477T>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890011	0.33348	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;D	0.81579	-1.49;-1.49;-1.49;-1.49;-1.51	5.67	3.25	0.37280	.	.	.	.	.	T	0.69468	0.3114	.	.	.	0.80722	D	1	B;B	0.23806	0.091;0.091	B;B	0.19666	0.018;0.026	T	0.63849	-0.6544	8	0.87932	D	0	.	3.2059	0.06666	0.1718:0.2158:0.0:0.6124	.	793;826	A4UGR9-4;A4UGR9-6	.;.	E	793;826;793;826;571	ENSP00000386454:V793E;ENSP00000386619:V826E;ENSP00000386724:V793E;ENSP00000415541:V826E;ENSP00000386981:V571E	ENSP00000386454:V793E	V	+	2	0	XIRP2	167823680	0.998000	0.40836	0.820000	0.32676	0.606000	0.37113	1.934000	0.40163	0.408000	0.25621	0.459000	0.35465	GTG		0.443	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		15	27	0	0	0	1	0	15	27				
SH3TC1	54436	broad.mit.edu	37	4	8207347	8207347	+	Intron	SNP	G	G	C	rs555334047		TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr4:8207347G>C	ENST00000245105.3	+	2	239				SH3TC1_ENST00000382521.3_Missense_Mutation_p.A86P|SH3TC1_ENST00000539824.1_Intron	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1											NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AACAAAACTGGCAAAGAACGA	0.567																																					NSCLC(145;2298 2623 35616 37297)	ENST00000382521.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(256-258)Gca>Cca		SH3 domain and tetratricopeptide repeats 1							37.0	38.0	38.0					4																	8207347		876	1991	2867	SO:0001627	intron_variant	54436						binding	g.chr4:8207347G>C	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.172+254G>C	4.37:g.8207347G>C						SH3TC1_ENST00000245105.3_Intron|SH3TC1_ENST00000539824.1_Intron	p.A86P			Q8TE82	S3TC1_HUMAN			3	326	+			446					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.256G>C	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	g	5.655	0.305538	0.10678	.	.	ENSG00000125089	ENST00000382521	.	.	.	1.62	-3.25	0.05079	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37798	-0.9690	5	0.66056	D	0.02	.	4.2836	0.10844	0.0:0.3641:0.2756:0.3603	.	.	.	.	P	86	.	ENSP00000371961:A86P	A	+	1	0	SH3TC1	8258247	0.003000	0.15002	0.000000	0.03702	0.082000	0.17680	0.781000	0.26774	-1.414000	0.02025	0.556000	0.70494	GCA		0.567	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		8	18	0	0	0	1	0	8	18				
CKAP5	9793	broad.mit.edu	37	11	46765604	46765604	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr11:46765604C>A	ENST00000529230.1	-	44	6114	c.6068G>T	c.(6067-6069)aGa>aTa	p.R2023I	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1963I|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1963I|CKAP5_ENST00000415402.1_Missense_Mutation_p.R2030I			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2023					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTCCAGTCTTTTTTTCAA	0.473																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(6067-6069)aGa>aTa		cytoskeleton associated protein 5							92.0	83.0	86.0					11																	46765604		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46765604C>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.6068G>T	11.37:g.46765604C>A	ENSP00000432768:p.Arg2023Ile					CKAP5_ENST00000312055.5_Missense_Mutation_p.R1963I|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1963I|CKAP5_ENST00000415402.1_Missense_Mutation_p.R2030I	p.R2023I			Q14008	CKAP5_HUMAN			44	6114	-			2023					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.6068G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121436	0.94385	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.68479	0.1;0.09;-0.33;-0.33	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81706	0.4879	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.995	D;D;D	0.83275	0.996;0.994;0.986	T	0.82924	-0.0216	10	0.87932	D	0	-10.801	19.5008	0.95093	0.0:1.0:0.0:0.0	.	2030;1963;2023	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	I	2023;2030;1963;1963	ENSP00000432768:R2023I;ENSP00000395302:R2030I;ENSP00000310227:R1963I;ENSP00000346566:R1963I	ENSP00000310227:R1963I	R	-	2	0	CKAP5	46722180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.620000	0.88729	0.655000	0.94253	AGA		0.473	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		6	61	1	0	0.00307968	1	0.00307968	6	61				
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251		TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(43-45)Ttt>Gtt		mitochondrial ribosomal protein L45							75.0	94.0	88.0					17																	36453192		692	1591	2283	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36453192T>G	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.43T>G	17.37:g.36453192T>G	ENSP00000308901:p.Phe15Val						p.F15V	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			1	204	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	15					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.43T>G	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.932710	0.00488	.	.	ENSG00000174100	ENST00000312513	T	0.27256	1.68	4.28	2.13	0.27403	.	.	.	.	.	T	0.06690	0.0171	N	0.00707	-1.245	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.32693	-0.9897	9	0.31617	T	0.26	.	3.1875	0.06606	0.249:0.0:0.5488:0.2022	.	15	Q9BRJ2	RM45_HUMAN	V	15	ENSP00000308901:F15V	ENSP00000308901:F15V	F	+	1	0	MRPL45	.	0.230000	0.23740	0.745000	0.31077	0.088000	0.18126	0.728000	0.26013	0.123000	0.18342	-1.308000	0.01314	TTT		0.582	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		4	32	0	0	0	1	0	4	32				
SNRK	54861	broad.mit.edu	37	3	43389775	43389775	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr3:43389775C>T	ENST00000296088.7	+	7	2328	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	SNRK_ENST00000437827.1_Missense_Mutation_p.S469F|SNRK_ENST00000429705.2_Missense_Mutation_p.S675F|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.S675F|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTCATTTTCCAGTGTGAAA	0.498																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(2023-2025)tCc>tTc		SNF related kinase							58.0	61.0	60.0					3																	43389775		1871	4105	5976	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43389775C>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.2024C>T	3.37:g.43389775C>T	ENSP00000296088:p.Ser675Phe					SNRK_ENST00000429705.2_Missense_Mutation_p.S675F|SNRK_ENST00000437827.1_Missense_Mutation_p.S469F|SNRK_ENST00000454177.1_Missense_Mutation_p.S675F	p.S675F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	2328	+			675						Missense_Mutation	SNP	ENST00000296088.7	37	c.2024C>T	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	C	6.981	0.551042	0.13374	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.67171	-0.25;-0.25;-0.25;2.64	5.26	3.42	0.39159	.	0.258781	0.38381	N	0.001706	T	0.60958	0.2309	L	0.54323	1.7	0.40330	D	0.978916	B	0.29085	0.232	B	0.27170	0.077	T	0.62402	-0.6862	10	0.87932	D	0	.	12.3261	0.55011	0.1347:0.7359:0.1294:0.0	.	675	Q9NRH2	SNRK_HUMAN	F	675;675;675;469	ENSP00000401246:S675F;ENSP00000411375:S675F;ENSP00000296088:S675F;ENSP00000409516:S469F	ENSP00000296088:S675F	S	+	2	0	SNRK	43364779	1.000000	0.71417	0.391000	0.26233	0.082000	0.17680	5.063000	0.64332	0.685000	0.31468	-0.176000	0.13171	TCC		0.498	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		7	54	0	0	0	1	0	7	54				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	18						7	18	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799652	5799652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr11:5799652delA	ENST00000317093.2	-	1	245	c.213delT	c.(211-213)tttfs	p.F71fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F71fs*59(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGCATGGCCAAAAAAAAAAT	0.428																																						ENST00000317093.2																			1	Deletion - Frameshift(1)	p.F71fs*59(1)	ovary(1)	endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(211-213)ttfs		olfactory receptor, family 52, subfamily N, member 5				21,37,4048		0,0,21,1,35,1996	123.0	117.0	119.0			2.7	0.6	11		123	37,129,7678		1,0,35,6,117,3763	no	codingComplex	OR52N5	NM_001001922.2		1,0,56,7,152,5759	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1163,1.4126,1.8745			5799652	58,166,11726	2125	4088	6213	SO:0001589	frameshift_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799652delA	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.213delT	11.37:g.5799652delA	ENSP00000322866:p.Phe71fs					TRIM5_ENST00000380027.1_Intron	p.F71fs	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	245	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	71					B9EH12|Q6IFG2	Frame_Shift_Del	DEL	ENST00000317093.2	37	c.213delT	CCDS31397.1																																																																																				0.428	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		7	26						7	26	---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	66996088	66996090	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:66996088_66996090delGCT	ENST00000288840.5	+	1	1523_1525	c.492_494delGCT	c.(490-495)cggctg>cgg	p.L168del	SMAD6_ENST00000457357.2_In_Frame_Del_p.L168del	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	168	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.|Poly-Leu.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CGCGCTCGCGGCTGCTGCTGCTG	0.759																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.(490-495)cgg>cg		SMAD family member 6																																				SO:0001651	inframe_deletion	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:66996088_66996090delGCT	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.492_494delGCT	15.37:g.66996097_66996099delGCT	ENSP00000288840:p.Leu168del					SMAD6_ENST00000457357.2_In_Frame_Del_p.RL164del	p.RL164del	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN			1	1523_1525	+			164			MH1.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	In_Frame_Del	DEL	ENST00000288840.5	37	c.492_494delGCT	CCDS10221.1																																																																																				0.759	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		2	4						2	4	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																						ENST00000380102.2																			1	Deletion - In frame(1)	p.S50_P54delSCCAP(1)	upper_aerodigestive_tract(1)	breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(133-150)ccc>cc		keratin associated protein 10-7			,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675					keratin filament		g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del					TSPEAR_ENST00000323084.4_Intron	p.PCCAPS45del	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	160_174	+			45			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	In_Frame_Del	DEL	ENST00000380102.2	37	c.135_149delCTGCTGCGCCCCCAG																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		6	13						6	13	---	---	---	---
