#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
SGIP1	84251	broad.mit.edu	37	1	67137639	67137639	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:67137639C>A	ENST00000371037.4	+	11	598	c.521C>A	c.(520-522)gCa>gAa	p.A174E	SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	174					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A142E(1)|p.A174E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAAGAAGTGGCAAGACCCAGG	0.378																																						ENST00000371037.4																			2	Substitution - Missense(2)	p.A142E(1)|p.A174E(1)	prostate(2)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(520-522)gCa>gAa		SH3-domain GRB2-like (endophilin) interacting protein 1							112.0	108.0	109.0					1																	67137639		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67137639C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.521C>A	1.37:g.67137639C>A	ENSP00000360076:p.Ala174Glu		Somatic				SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E	p.A174E	NM_032291.2	NP_115667.2	WXS	Illumina GAIIx	Phase_I	Q9BQI5	SGIP1_HUMAN			11	598	+			174					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.521C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881115	0.72294	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	5.53	4.62	0.57501	.	0.099543	0.64402	D	0.000002	T	0.02455	0.0075	L	0.49126	1.545	0.44462	D	0.997399	B	0.20550	0.046	B	0.27500	0.08	T	0.36672	-0.9738	10	0.44086	T	0.13	-10.4226	14.4932	0.67665	0.0:0.9292:0.0:0.0708	.	174	Q9BQI5	SGIP1_HUMAN	E	178;142;166;131;177;177;141;174	ENSP00000237247:A178E;ENSP00000360078:A142E;ENSP00000410439:A166E;ENSP00000360074:A131E;ENSP00000360075:A141E;ENSP00000360076:A174E	ENSP00000237247:A178E	A	+	2	0	SGIP1	66910227	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	4.571000	0.60879	1.336000	0.45506	0.563000	0.77884	GCA		0.378	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		3	77	3	77	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720213	140720213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140720213G>A	ENST00000394576.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A559T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCCGAGAT	0.622																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A559T(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1675-1677)Gcg>Acg									153.0	154.0	153.0					5																	140720213		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140720213G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1675G>A	5.37:g.140720213G>A	ENSP00000378077:p.Ala559Thr		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.A559T	NM_018915.2	NP_061738.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1675G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	3.484	-0.105364	0.06967	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	-2.35	0.06684	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	N	0.808345	T	0.04497	0.0123	L	0.53249	1.67	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.17722	0.019;0.012	T	0.43410	-0.9393	10	0.36615	T	0.2	.	5.824	0.18544	0.327:0.2199:0.4531:0.0	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	559	ENSP00000378077:A559T	ENSP00000378077:A559T	A	+	1	0	PCDHGA2	140700397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.061000	0.03472	-0.807000	0.04393	-0.895000	0.02911	GCG		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		14	278	14	278	---	---	---	---
ANKMY2	57037	broad.mit.edu	37	7	16676046	16676046	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:16676046G>C	ENST00000306999.2	-	2	345	c.102C>G	c.(100-102)agC>agG	p.S34R	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	34						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.S34R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAACATTCTTGCTGGATAATA	0.289																																						ENST00000306999.2																			1	Substitution - Missense(1)	p.S34R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(100-102)agC>agG		ankyrin repeat and MYND domain containing 2							31.0	30.0	31.0					7																	16676046		2203	4298	6501	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16676046G>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.102C>G	7.37:g.16676046G>C	ENSP00000303570:p.Ser34Arg		Somatic				ANKMY2_ENST00000421746.1_5'UTR	p.S34R	NM_020319.2	NP_064715.1	WXS	Illumina GAIIx	Phase_I	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	2	345	-	Lung NSC(10;0.103)|all_lung(11;0.204)		34					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.102C>G	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635621	0.47049	.	.	ENSG00000106524	ENST00000306999	T	0.36157	1.27	5.4	4.48	0.54585	Ankyrin repeat-containing domain (4);	0.119080	0.85682	D	0.000000	T	0.25306	0.0615	N	0.16478	0.41	0.49798	D	0.999829	P	0.43885	0.82	B	0.42087	0.375	T	0.05869	-1.0859	10	0.62326	D	0.03	-0.1336	10.6641	0.45719	0.1015:0.0:0.8984:0.0	.	34	Q8IV38	ANKY2_HUMAN	R	34	ENSP00000303570:S34R	ENSP00000303570:S34R	S	-	3	2	ANKMY2	16642571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.609000	0.54117	1.277000	0.44412	0.650000	0.86243	AGC		0.289	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		3	65	3	65	---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8749969	8749969	+	Silent	SNP	C	C	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr8:8749969C>A	ENST00000276282.6	-	1	1186	c.600G>T	c.(598-600)ctG>ctT	p.L200L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	200								p.L200L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAGCTGCAGCAGCTGCCGGG	0.672																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			1	Substitution - coding silent(1)	p.L200L(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(598-600)ctG>ctT		malignant fibrous histiocytoma amplified sequence 1							18.0	21.0	20.0					8																	8749969		2194	4299	6493	SO:0001819	synonymous_variant	9258							g.chr8:8749969C>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.600G>T	8.37:g.8749969C>A			Somatic					p.L200L	NM_004225.2	NP_004216.2	WXS	Illumina GAIIx	Phase_I	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1186	-		Hepatocellular(245;0.217)	200					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.600G>T	CCDS34844.1																																																																																				0.672	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		3	22	3	22	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12143062	12143062	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr10:12143062G>A	ENST00000263035.4	+	10	1840	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	593					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G593D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTCTAAGTGGCCAAGATGTT	0.408																																						ENST00000263035.4																			1	Substitution - Missense(1)	p.G593D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1777-1779)gGc>gAc		dehydrogenase E1 and transketolase domain containing 1							188.0	172.0	177.0					10																	12143062		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12143062G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1778G>A	10.37:g.12143062G>A	ENSP00000263035:p.Gly593Asp		Somatic					p.G593D	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		10	1840	+		Renal(717;0.228)	593					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1778G>A	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.198923|5.198923	0.94997|0.94997	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	D|.	0.93488|.	-3.23|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Transketolase-like, pyrimidine-binding domain (2);|.	0.089941|.	0.85682|.	D|.	0.000000|.	D|.	0.88284|.	0.6395|.	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.91992|.	0.5604|.	10|.	0.87932|.	D|.	0|.	-8.3663|-8.3663	17.5351|17.5351	0.87827|0.87827	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	593|.	Q96HY7|.	DHTK1_HUMAN|.	D|X	593|144	ENSP00000263035:G593D|.	ENSP00000263035:G593D|.	G|W	+|+	2|3	0|0	DHTKD1|DHTKD1	12183068|12183068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.936000|8.936000	0.92931|0.92931	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.408	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		16	349	16	349	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43513626	43513626	+	Silent	SNP	C	C	T	rs200611245		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr11:43513626C>T	ENST00000039989.4	+	23	3221	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1069					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D1069D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGAATGACGCCGTCATAG	0.517																																						ENST00000039989.4																			1	Substitution - coding silent(1)	p.D1069D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3205-3207)gaC>gaT		tetratricopeptide repeat domain 17		C		0,4406		0,0,2203	258.0	217.0	231.0		3207	-4.1	1.0	11		231	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TTC17	NM_018259.5		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		1069/1142	43513626	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43513626C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3207C>T	11.37:g.43513626C>T			Somatic					p.D1069D	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	Q96AE7	TTC17_HUMAN			23	3221	+			1069					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.3207C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	9.039	0.989158	0.18966	0.0	4.65E-4	ENSG00000052841	ENST00000418561	.	.	.	5.61	-4.14	0.03892	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62723	-0.6794	4	.	.	.	-18.3048	13.7921	0.63148	0.0:0.2105:0.0:0.7895	.	.	.	.	M	100	.	.	T	+	2	0	TTC17	43470202	0.326000	0.24669	0.966000	0.40874	0.890000	0.51754	-0.326000	0.07965	-0.705000	0.05035	-0.742000	0.03525	ACG		0.517	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		14	393	14	393	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104487295	104487295	+	Silent	SNP	T	T	G	rs138874026		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr12:104487295T>G	ENST00000229330.4	+	10	1520	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	472					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.A472A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATCAAATGCTTCTAATCATA	0.333																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Substitution - coding silent(1)	p.A472A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1414-1416)gcT>gcG		host cell factor C2							80.0	78.0	79.0					12																	104487295		2203	4299	6502	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487295T>G	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1416T>G	12.37:g.104487295T>G			Somatic				HCFC2_ENST00000550335.1_3'UTR	p.A472A	NM_013320.2	NP_037452.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Z7	HCFC2_HUMAN			10	1520	+			472					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.1416T>G	CCDS9097.1																																																																																				0.333	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		8	197	8	197	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72130068	72130068	+	Silent	SNP	C	C	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:72130068C>T	ENST00000268482.3	+	2	521	c.12C>T	c.(10-12)acC>acT	p.T4T	TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000268483.3_5'Flank|DHX38_ENST00000536867.1_Silent_p.T4T|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	4					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.T4T(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGGACACCAGTGAGGATG	0.498																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			1	Substitution - coding silent(1)	p.T4T(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(10-12)acC>acT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							73.0	58.0	63.0					16																	72130068		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130068C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.12C>T	16.37:g.72130068C>T			Somatic				DHX38_ENST00000536867.1_Silent_p.T4T	p.T4T	NM_014003.3	NP_054722.2	WXS	Illumina GAIIx	Phase_I	Q92620	PRP16_HUMAN			2	521	+		Ovarian(137;0.125)	4					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.12C>T	CCDS10907.1																																																																																				0.498	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		5	149	5	149	---	---	---	---
SGSM2	9905	broad.mit.edu	37	17	2267466	2267466	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:2267466G>T	ENST00000426855.2	+	8	1096	c.921G>T	c.(919-921)gaG>gaT	p.E307D	SGSM2_ENST00000268989.3_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	307					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E307D(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGACTCCGAGCTGGAAAAGA	0.617																																						ENST00000268989.3																			1	Substitution - Missense(1)	p.E307D(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(919-921)gaG>gaT		small G protein signaling modulator 2							35.0	38.0	37.0					17																	2267466		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2267466G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.921G>T	17.37:g.2267466G>T	ENSP00000415107:p.Glu307Asp		Somatic				SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D	p.E307D	NM_014853.2	NP_055668.2	WXS	Illumina GAIIx	Phase_I	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	8	1098	+			307					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.921G>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955347	0.18507	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.28666	1.6;1.6	5.6	5.6	0.85130	.	0.046010	0.85682	D	0.000000	T	0.14743	0.0356	N	0.08118	0	0.50171	D	0.999852	B;B;P	0.35155	0.005;0.371;0.487	B;B;B	0.35470	0.004;0.16;0.203	T	0.09164	-1.0687	10	0.02654	T	1	-1.4855	13.8735	0.63634	0.0752:0.0:0.9248:0.0	.	307;307;307	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	D	307	ENSP00000268989:E307D;ENSP00000415107:E307D	ENSP00000268989:E307D	E	+	3	2	SGSM2	2214216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.027000	0.41078	2.653000	0.90120	0.563000	0.77884	GAG		0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		3	83	3	83	---	---	---	---
