#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CAPN13	92291	broad.mit.edu	37	2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577																																						ENST00000295055.8																			2	Substitution - Missense(2)	p.Y185C(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(553-555)tAt>tGt		calpain 13							52.0	54.0	53.0					2																	30987143		2104	4213	6317	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30987143T>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.554A>G	2.37:g.30987143T>C	ENSP00000295055:p.Tyr185Cys		Somatic				CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	p.Y185C	NM_144575.2	NP_653176.2	WXS	Illumina GAIIx	Phase_I	Q6MZZ7	CAN13_HUMAN			6	730	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		185			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.554A>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477937	0.26511	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87256	-2.23;-2.23	5.22	-0.378	0.12497	Peptidase C2, calpain, catalytic domain (3);	1.246410	0.05317	N	0.525951	D	0.89750	0.6805	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.74808	-0.3539	10	0.42905	T	0.14	.	1.2442	0.01969	0.1383:0.23:0.143:0.4887	.	185	Q6MZZ7	CAN13_HUMAN	C	185	ENSP00000295055:Y185C;ENSP00000431298:Y185C	ENSP00000295055:Y185C	Y	-	2	0	CAPN13	30840647	0.000000	0.05858	0.397000	0.26308	0.202000	0.24057	-0.386000	0.07370	0.266000	0.21894	0.379000	0.24179	TAT		0.577	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		9	22	9	22	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54753666	54753666	+	Silent	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532																																						ENST00000356805.4																			1	Substitution - coding silent(1)	p.A37A(1)	prostate(1)	NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(109-111)gcG>gcA		spectrin, beta, non-erythrocytic 1							123.0	112.0	116.0					2																	54753666		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753666G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.111G>A	2.37:g.54753666G>A			Somatic				AC092839.3_ENST00000433475.1_RNA	p.A37A	NM_003128.2	NP_003119.2	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	392	+			37			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.111G>A	CCDS33198.1																																																																																				0.532	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			16	54	16	54	---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr3:25778887T>C	ENST00000280700.5	-	6	1101	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000428257.1_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413																																						ENST00000428257.1																			1	Substitution - Missense(1)	p.N314S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(940-942)aAt>aGt		N-glycanase 1							97.0	92.0	93.0					3																	25778887		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25778887T>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.941A>G	3.37:g.25778887T>C	ENSP00000280700:p.Asn314Ser		Somatic				NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V	p.N314S	NM_001145293.1	NP_001138765.1	WXS	Illumina GAIIx	Phase_I	Q96IV0	NGLY1_HUMAN			6	1048	-			314					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.941A>G	CCDS33719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.629912|3.629912	0.67015|0.67015	.|.	.|.	ENSG00000151092|ENSG00000151092	ENST00000422724|ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	.|T;T;T;T;T	.|0.19938	.|2.11;2.11;2.11;2.11;2.11	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Transglutaminase-like (2);	.|0.039044	.|0.85682	.|D	.|0.000000	T|T	0.48205|0.48205	0.1487|0.1487	M|M	0.79258|0.79258	2.445|2.445	0.29190|0.29190	N|N	0.875941|0.875941	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.997;0.997;0.992;1.0	T|T	0.50625|0.50625	-0.8806|-0.8806	6|9	0.21014|.	T|.	0.42|.	-20.7453|-20.7453	15.3861|15.3861	0.74703|0.74703	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|272;314;314;314	.|B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.|.;.;.;NGLY1_HUMAN	V|S	163|314;314;314;311;272	.|ENSP00000387430:N314S;ENSP00000280700:N314S;ENSP00000379886:N314S;ENSP00000307980:N311S;ENSP00000389888:N272S	ENSP00000395878:I163V|.	I|N	-|-	1|2	0|0	NGLY1|NGLY1	25753891|25753891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.769000|7.769000	0.85360|0.85360	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.413	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			8	61	8	61	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25678365	25678365	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - coding silent(1)	p.A689A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2065-2067)gcC>gcT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49.0	50.0	49.0					4																	25678365		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678365C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2067C>T	4.37:g.25678365C>T			Somatic				SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_Silent_p.A688A	p.A689A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	WXS	Illumina GAIIx	Phase_I	O95436	NPT2B_HUMAN			13	2117	+		Breast(46;0.0503)	689					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.2067C>T	CCDS3435.1																																																																																				0.562	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		12	56	12	56	---	---	---	---
TMEM184C	55751	broad.mit.edu	37	4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral component of membrane (GO:0016021)		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323																																						ENST00000296582.3																			1	Substitution - Missense(1)	p.F55L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(163-165)ttT>ttG		transmembrane protein 184C							134.0	132.0	133.0					4																	148545026		2202	4300	6502	SO:0001583	missense	55751					integral to membrane		g.chr4:148545026T>G	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.165T>G	4.37:g.148545026T>G	ENSP00000296582:p.Phe55Leu		Somatic				TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	p.F55L	NM_018241.2	NP_060711.2	WXS	Illumina GAIIx	Phase_I	Q9NVA4	T184C_HUMAN			2	739	+			55					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.165T>G	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469537	0.84533	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.47528	0.84;0.84	5.42	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.77616	2.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69654	0.965	T	0.66748	-0.5845	10	0.48119	T	0.1	-23.7472	11.2847	0.49216	0.0:0.0718:0.0:0.9282	.	55	Q9NVA4	T184C_HUMAN	L	55	ENSP00000296582:F55L;ENSP00000425940:F55L	ENSP00000296582:F55L	F	+	3	2	TMEM184C	148764476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.847000	0.48270	1.004000	0.39156	0.455000	0.32223	TTT		0.323	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		23	66	23	66	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	485					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358																																						ENST00000358755.4																			1	Substitution - Missense(1)	p.I485V(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1453-1455)Att>Gtt		frizzled family receptor 6							106.0	111.0	110.0					8																	104340556		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104340556A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1453A>G	8.37:g.104340556A>G	ENSP00000351605:p.Ile485Val		Somatic				FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V	p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	WXS	Illumina GAIIx	Phase_I	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	1770	+			485					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1453A>G	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665214	0.29604	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.31	5.31	0.75309	GPCR, family 2-like (1);	0.106321	0.64402	D	0.000004	T	0.61565	0.2357	N	0.04373	-0.215	0.42222	D	0.991855	B;B;B;B	0.27625	0.106;0.183;0.122;0.181	B;B;B;B	0.30782	0.08;0.12;0.064;0.08	T	0.61382	-0.7074	10	0.07482	T	0.82	.	15.5551	0.76187	1.0:0.0:0.0:0.0	.	430;180;485;485	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	V	485;485;453;180;430	ENSP00000429055:I485V;ENSP00000351605:I485V;ENSP00000429528:I453V;ENSP00000443757:I180V	ENSP00000351605:I485V	I	+	1	0	FZD6	104409732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.846000	0.69444	2.125000	0.65367	0.383000	0.25322	ATT		0.358	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		14	47	14	47	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			1	Substitution - Missense(1)	p.P299T(1)	prostate(1)	kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(895-897)Ccc>Acc		STE20-like kinase							100.0	87.0	91.0					10																	105761232		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105761232C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.895C>A	10.37:g.105761232C>A	ENSP00000358770:p.Pro299Thr		Somatic				SLK_ENST00000335753.4_Missense_Mutation_p.P299T	p.P299T	NM_014720.2	NP_055535.2	WXS	Illumina GAIIx	Phase_I	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	8	1440	+		Colorectal(252;0.178)	299					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.895C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550650	0.86127	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.21191	2.02;2.02	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.50516	-0.8819	10	0.54805	T	0.06	.	19.3762	0.94510	0.0:1.0:0.0:0.0	.	299;299	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	299	ENSP00000336824:P299T;ENSP00000358770:P299T	ENSP00000336824:P299T	P	+	1	0	SLK	105751222	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.377000	0.73145	2.646000	0.89796	0.462000	0.41574	CCC		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		7	32	7	32	---	---	---	---
KRTAP5-9	3846	broad.mit.edu	37	11	71259904	71259904	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627																																						ENST00000528743.2																			1	Substitution - coding silent(1)	p.G67G(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(199-201)ggC>ggT		keratin associated protein 5-9							98.0	114.0	108.0					11																	71259904		2200	4293	6493	SO:0001819	synonymous_variant	3846				epidermis development	keratin filament		g.chr11:71259904C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.201C>T	11.37:g.71259904C>T			Somatic					p.G67G	NM_005553.3	NP_005544.4	WXS	Illumina GAIIx	Phase_I	P26371	KRA59_HUMAN			1	439	+			67			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	c.201C>T	CCDS53677.1																																																																																				0.627	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			8	159	8	159	---	---	---	---
BBS10	79738	broad.mit.edu	37	12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373									Bardet-Biedl syndrome																													ENST00000393262.3																			1	Substitution - Missense(1)	p.G272R(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(814-816)Gga>Aga		Bardet-Biedl syndrome 10							60.0	53.0	56.0					12																	76740951		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740951C>T	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.814G>A	12.37:g.76740951C>T	ENSP00000376946:p.Gly272Arg		Somatic					p.G272R	NM_024685.3	NP_078961.3	WXS	Illumina GAIIx	Phase_I	Q8TAM1	BBS10_HUMAN			2	897	-			272					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.814G>A	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631643	0.29068	.	.	ENSG00000179941	ENST00000393262	T	0.68903	-0.36	5.13	4.22	0.49857	.	0.217724	0.38605	N	0.001637	T	0.65913	0.2737	M	0.67953	2.075	0.45554	D	0.998508	B	0.25390	0.125	B	0.28011	0.085	T	0.67515	-0.5651	10	0.59425	D	0.04	-5.011	13.5366	0.61650	0.0:0.9241:0.0:0.0759	.	272	Q8TAM1	BBS10_HUMAN	R	272	ENSP00000376946:G272R	ENSP00000376946:G272R	G	-	1	0	BBS10	75265082	0.054000	0.20591	0.741000	0.31004	0.526000	0.34562	0.833000	0.27504	1.497000	0.48584	0.650000	0.86243	GGA		0.373	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		12	26	12	26	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448																																						ENST00000261991.3																			2	Substitution - Missense(2)	p.I524L(2)	prostate(2)	endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1570-1572)Atc>Ctc		ribosomal protein S6 kinase, 90kDa, polypeptide 5							147.0	122.0	131.0					14																	91360831		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91360831T>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1570A>C	14.37:g.91360831T>G	ENSP00000261991:p.Ile524Leu		Somatic				RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	p.I524L	NM_004755.2	NP_004746.2	WXS	Illumina GAIIx	Phase_I	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	13	1743	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	524			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1570A>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714874	0.48622	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	L	0.39633	1.23	0.80722	D	1	B;D	0.59357	0.001;0.985	B;P	0.60345	0.086;0.873	T	0.56426	-0.7981	10	0.45353	T	0.12	.	15.9027	0.79392	0.0:0.0:0.0:1.0	.	524;524	O75582-2;O75582	.;KS6A5_HUMAN	L	524;445;524	ENSP00000261991:I524L;ENSP00000442803:I445L;ENSP00000402787:I524L	ENSP00000261991:I524L	I	-	1	0	RPS6KA5	90430584	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	8.040000	0.89188	2.146000	0.66826	0.533000	0.62120	ATC		0.448	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		25	54	25	54	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537																																						ENST00000261722.3																			2	Substitution - Missense(2)	p.G433V(1)|p.G434V(1)	prostate(2)	breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1300-1302)gGa>gTa		adaptor-related protein complex 3, beta 2 subunit							46.0	50.0	49.0					15																	83346500		2113	4232	6345	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346500C>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1301G>T	15.37:g.83346500C>A	ENSP00000261722:p.Gly434Val		Somatic				AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA	p.G434V	NM_004644.3	NP_004635.2	WXS	Illumina GAIIx	Phase_I	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		12	1508	-			434					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1301G>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415553	0.83449	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.15952	2.38;2.38;2.38	4.98	4.07	0.47477	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	T	0.68595	-0.5367	10	0.87932	D	0	-11.4066	13.5112	0.61513	0.0:0.9249:0.0:0.0751	.	402;434;434	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	V	434;402;434	ENSP00000261722:G434V;ENSP00000438721:G402V;ENSP00000440984:G434V	ENSP00000261722:G434V	G	-	2	0	AP3B2	81143555	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	7.627000	0.83176	1.339000	0.45563	0.655000	0.94253	GGA		0.537	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			4	14	4	14	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423																																						ENST00000268182.5																			1	Substitution - Missense(1)	p.P1273A(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3817-3819)Cca>Gca		IQ motif containing GTPase activating protein 1							141.0	135.0	137.0					15																	91027480		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91027480C>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3817C>G	15.37:g.91027480C>G	ENSP00000268182:p.Pro1273Ala		Somatic				IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	p.P1273A	NM_003870.3	NP_003861.1	WXS	Illumina GAIIx	Phase_I	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		30	3941	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1273			C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3817C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654187	0.67472	.	.	ENSG00000140575	ENST00000268182	D	0.83419	-1.72	5.55	5.55	0.83447	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.118031	0.64402	D	0.000018	T	0.80199	0.4579	L	0.60957	1.885	0.80722	D	1	B	0.33883	0.43	B	0.26310	0.068	T	0.78593	-0.2144	10	0.38643	T	0.18	-12.8494	18.858	0.92260	0.0:1.0:0.0:0.0	.	1273	P46940	IQGA1_HUMAN	A	1273	ENSP00000268182:P1273A	ENSP00000268182:P1273A	P	+	1	0	IQGAP1	88828484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.626000	0.83164	2.770000	0.95276	0.650000	0.86243	CCA		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		33	121	33	121	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100331077	100331077	+	RNA	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:100331077C>A	ENST00000341853.1	-	0	3114				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GCGGCCCCTCCCCTCAGAGTA	0.517																																						ENST00000341853.1																			0																				66.0	70.0	69.0					15																	100331077		876	1991	2867			196968							g.chr15:100331077C>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331077C>A			Somatic						NR_003260.1		WXS	Illumina GAIIx	Phase_I					0	3114	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.517	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	91	4	91	---	---	---	---
TMEM105	284186	broad.mit.edu	37	17	79287646	79287646	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:79287646C>A	ENST00000332900.1	-	3	744	c.195G>T	c.(193-195)tgG>tgT	p.W65C		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	65						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CACAGTCCCCCCAAGGAGACC	0.642																																						ENST00000332900.1																			0				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7						c.(193-195)tgG>tgT		transmembrane protein 105							37.0	46.0	43.0					17																	79287646		2203	4298	6501	SO:0001583	missense	284186					integral to membrane		g.chr17:79287646C>A	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.195G>T	17.37:g.79287646C>A	ENSP00000329795:p.Trp65Cys		Somatic					p.W65C	NM_178520.3	NP_848615.1	WXS	Illumina GAIIx	Phase_I	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		3	744	-	all_neural(118;0.0804)|Melanoma(429;0.242)		65						Missense_Mutation	SNP	ENST00000332900.1	37	c.195G>T	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	C	5.227	0.227465	0.09916	.	.	ENSG00000185332	ENST00000332900	T	0.56444	0.46	2.53	-1.14	0.09741	.	.	.	.	.	T	0.39963	0.1098	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.56042	0.79	T	0.30208	-0.9986	9	0.87932	D	0	.	4.9737	0.14129	0.1668:0.51:0.3233:0.0	.	65	Q8N8V8	TM105_HUMAN	C	65	ENSP00000329795:W65C	ENSP00000329795:W65C	W	-	3	0	TMEM105	76902241	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.674000	0.05233	-0.149000	0.11215	-0.802000	0.03209	TGG		0.642	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		4	112	4	112	---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3236652	3236652	+	Splice_Site	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261G>C	c.(3259-3261)caG>caC	p.Q1087H	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.Q1087H(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(3259-3261)caG>caC		chromosome 20 open reading frame 194							44.0	46.0	45.0					20																	3236652		2080	4213	6293	SO:0001630	splice_region_variant	25943							g.chr20:3236652C>G	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3261+1G>C	20.37:g.3236652C>G			Somatic				C20orf194_ENST00000453730.2_3'UTR	p.Q1087H	NM_001009984.2	NP_001009984.1	WXS	Illumina GAIIx	Phase_I	Q5TEA3	CT194_HUMAN			34	3328	-			1087					Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	c.3261G>C	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556738	0.86231	.	.	ENSG00000088854	ENST00000252032	T	0.23348	1.91	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.42582	-0.9443	9	.	.	.	.	19.6747	0.95926	0.0:1.0:0.0:0.0	.	826;1087	Q0IIP3;Q5TEA3	.;CT194_HUMAN	H	1087	ENSP00000252032:Q1087H	.	Q	-	3	2	C20orf194	3184652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.171000	0.71926	2.654000	0.90174	0.643000	0.83706	CAG		0.597	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Missense_Mutation	8	27	8	27	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:40735499T>G	ENST00000373187.1	-	24	3316	c.3317A>C	c.(3316-3318)aAt>aCt	p.N1106T	PTPRT_ENST00000373198.4_Missense_Mutation_p.N1125T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1106	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.		N -> I (in a colorectal cancer; reduced phosphatase activity). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562																																						ENST00000373198.4																			1	Substitution - Missense(1)	p.N1128T(1)	prostate(1)	NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3373-3375)aAt>aCt		protein tyrosine phosphatase, receptor type, T							85.0	95.0	91.0					20																	40735499		2109	4247	6356	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735499T>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3317A>C	20.37:g.40735499T>G	ENSP00000362283:p.Asn1106Thr		Somatic				PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T	p.N1125T	NM_133170.3	NP_573400.3	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			25	3609	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3374A>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997165	0.35226	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.41	5.41	0.78517	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.046866	0.85682	D	0.000000	T	0.20088	0.0483	N	0.12746	0.255	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03524	-1.1028	10	0.36615	T	0.2	.	15.7427	0.77914	0.0:0.0:0.0:1.0	.	1128;1106	O14522-1;O14522	.;PTPRT_HUMAN	T	1105;1106;1109;1115;1128;1116;1096	ENSP00000362286:N1105T;ENSP00000362283:N1106T;ENSP00000362289:N1109T;ENSP00000348408:N1115T;ENSP00000362294:N1128T;ENSP00000362280:N1116T;ENSP00000362297:N1096T	ENSP00000348408:N1115T	N	-	2	0	PTPRT	40168913	0.923000	0.31300	0.998000	0.56505	0.954000	0.61252	1.712000	0.37940	2.178000	0.69098	0.482000	0.46254	AAT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	103	4	103	---	---	---	---
