#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ELTD1	64123	broad.mit.edu	37	1	79470893	79470893	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:79470893T>A	ENST00000370742.3	-	2	97	c.34A>T	c.(34-36)Act>Tct	p.T12S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	12					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCAACAAAGTGGAAAAAACC	0.313																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(34-36)Act>Tct		EGF, latrophilin and seven transmembrane domain containing 1							58.0	50.0	53.0					1																	79470893		1805	4073	5878	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470893T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.34A>T	1.37:g.79470893T>A	ENSP00000359778:p.Thr12Ser						p.T12S	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	97	-			12					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.34A>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	7.625	0.677707	0.14841	.	.	ENSG00000162618	ENST00000370742	T	0.35973	1.28	5.65	5.65	0.86999	.	0.169488	0.50627	D	0.000101	T	0.09069	0.0224	N	0.11000	0.08	0.33313	D	0.566298	P	0.35192	0.489	B	0.34093	0.175	T	0.15464	-1.0436	9	.	.	.	.	12.2707	0.54704	0.0:0.0:0.0:1.0	.	12	Q9HBW9	ELTD1_HUMAN	S	12	ENSP00000359778:T12S	.	T	-	1	0	ELTD1	79243481	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.208000	0.58486	2.155000	0.67459	0.482000	0.46254	ACT		0.313	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		12	31	12	31	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228466409	228466409	+	Silent	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:228466409G>A	ENST00000422127.1	+	26	6923	c.6879G>A	c.(6877-6879)gtG>gtA	p.V2293V	OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V2293V|OBSCN_ENST00000570156.2_Silent_p.V2722V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2293	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCCTCGTGCGCCCGCTGC	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8164-8166)gtG>gtA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							40.0	47.0	44.0					1																	228466409		2111	4230	6341	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466409G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6879G>A	1.37:g.228466409G>A						OBSCN_ENST00000284548.11_Silent_p.V2293V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000422127.1_Silent_p.V2293V	p.V2722V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			31	8240	+		Prostate(94;0.0405)	1720			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8166G>A	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	84	11	84	---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151356	247151356	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:247151356T>C	ENST00000339986.7	-	4	608	c.461A>G	c.(460-462)aAa>aGa	p.K154R	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	154					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAAGTTTTTGCTATGAGT	0.348																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(460-462)aAa>aGa		zinc finger protein 695							201.0	192.0	195.0					1																	247151356		1879	4114	5993	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151356T>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.461A>G	1.37:g.247151356T>C	ENSP00000341236:p.Lys154Arg					ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	p.K154R	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	608	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	154					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.461A>G	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030470	0.35797	.	.	ENSG00000197472	ENST00000339986	T	0.01981	4.52	0.459	0.459	0.16678	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.88031	2.925	0.09310	N	1	D	0.54772	0.968	B	0.39805	0.31	T	0.33189	-0.9878	9	0.72032	D	0.01	.	5.1621	0.15066	0.0:1.0E-4:0.0:0.9999	.	154	Q8IW36	ZN695_HUMAN	R	154	ENSP00000341236:K154R	ENSP00000341236:K154R	K	-	2	0	ZNF695	245217979	0.000000	0.05858	0.012000	0.15200	0.098000	0.18820	-1.092000	0.03366	0.403000	0.25479	0.164000	0.16699	AAA		0.348	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		24	245	24	245	---	---	---	---
C1QL2	165257	broad.mit.edu	37	2	119915213	119915213	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:119915213C>T	ENST00000272520.3	-	1	1252	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	211	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CGCCGCCGCGCATGAGGATGT	0.637										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(631-633)atG>atA		complement component 1, q subcomponent-like 2							55.0	61.0	59.0					2																	119915213		2202	4300	6502	SO:0001583	missense	165257					collagen		g.chr2:119915213C>T	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.633G>A	2.37:g.119915213C>T	ENSP00000272520:p.Met211Ile	HNSCC(49;0.14)					p.M211I	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			1	1252	-			211			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.633G>A	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066187	0.76187	.	.	ENSG00000144119	ENST00000272520	T	0.21031	2.03	4.87	4.87	0.63330	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.46819	1.47	0.58432	D	0.999999	B	0.28470	0.213	B	0.40982	0.345	T	0.04930	-1.0917	9	.	.	.	.	16.7477	0.85477	0.0:1.0:0.0:0.0	.	211	Q7Z5L3	C1QL2_HUMAN	I	211	ENSP00000272520:M211I	.	M	-	3	0	C1QL2	119631683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.586000	0.82596	2.541000	0.85698	0.561000	0.74099	ATG		0.637	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		25	45	25	45	---	---	---	---
TNFAIP6	7130	broad.mit.edu	37	2	152235947	152235947	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:152235947T>C	ENST00000243347.3	+	6	809	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	245	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	ATCAAATATGTTGCAATGGAT	0.378																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(733-735)gTt>gCt		tumor necrosis factor, alpha-induced protein 6							119.0	125.0	123.0					2																	152235947		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152235947T>C		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.734T>C	2.37:g.152235947T>C	ENSP00000243347:p.Val245Ala						p.V245A	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	6	809	+			245			CUB.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.734T>C	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	T	9.844	1.191751	0.21954	.	.	ENSG00000123610	ENST00000243347	T	0.28255	1.62	5.66	4.5	0.54988	CUB (4);	0.599534	0.17982	N	0.155491	T	0.14485	0.0350	N	0.12527	0.23	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.31166	-0.9953	10	0.08837	T	0.75	.	7.6393	0.28284	0.0:0.2312:0.0:0.7688	.	245	P98066	TSG6_HUMAN	A	245	ENSP00000243347:V245A	ENSP00000243347:V245A	V	+	2	0	TNFAIP6	151944193	0.000000	0.05858	0.014000	0.15608	0.693000	0.40251	0.782000	0.26788	0.966000	0.38159	0.533000	0.62120	GTT		0.378	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		15	159	15	159	---	---	---	---
CAND2	23066	broad.mit.edu	37	3	12845003	12845003	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr3:12845003G>T	ENST00000456430.2	+	2	126	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	29					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCACCAGCGACCTGATGTC	0.607																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(85-87)Gac>Tac		cullin-associated and neddylation-dissociated 2 (putative)							49.0	56.0	53.0					3																	12845003		2193	4292	6485	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12845003G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.85G>T	3.37:g.12845003G>T	ENSP00000387641:p.Asp29Tyr					CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			2	126	+			29					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.85G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336094	0.81801	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.08008	3.14;3.14	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56541	-0.7962	10	0.62326	D	0.03	-10.8109	15.3036	0.73976	0.0:0.0:1.0:0.0	.	29;29	O75155;O75155-2	CAND2_HUMAN;.	Y	29	ENSP00000295989:D29Y;ENSP00000387641:D29Y	ENSP00000295989:D29Y	D	+	1	0	CAND2	12820003	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.532000	0.98057	2.537000	0.85549	0.655000	0.94253	GAC		0.607	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		4	79	4	79	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25538149	25538149	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:25538149G>A	ENST00000329474.6	+	25	2502	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	712					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGGGGAGACGCTATCCAGGA	0.433																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2134-2136)Gct>Act		leucine rich repeat containing 16A							55.0	53.0	54.0					6																	25538149		1912	4119	6031	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25538149G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2134G>A	6.37:g.25538149G>A	ENSP00000331983:p.Ala712Thr						p.A712T	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			25	2502	+			712					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2134G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059471	0.36373	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.15834	2.39	5.61	4.74	0.60224	.	0.222293	0.46442	D	0.000289	T	0.03651	0.0104	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.23854	0.032;0.06;0.092;0.032	B;B;B;B	0.21151	0.015;0.011;0.033;0.015	T	0.34329	-0.9833	10	0.16896	T	0.51	.	6.1668	0.20394	0.1441:0.0:0.695:0.1609	.	712;712;712;712	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	T	712	ENSP00000331983:A712T	ENSP00000331983:A712T	A	+	1	0	LRRC16A	25646128	0.961000	0.32948	0.989000	0.46669	0.995000	0.86356	2.439000	0.44846	2.629000	0.89072	0.655000	0.94253	GCT		0.433	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		3	16	3	16	---	---	---	---
TAF5	6877	broad.mit.edu	37	10	105133312	105133312	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr10:105133312T>A	ENST00000369839.3	+	2	780	c.757T>A	c.(757-759)Tac>Aac	p.Y253N	TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	253					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGAGCTAGTCTACAATCAACA	0.388																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(757-759)Tac>Aac		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							95.0	88.0	90.0					10																	105133312		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105133312T>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.757T>A	10.37:g.105133312T>A	ENSP00000358854:p.Tyr253Asn					TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	780	+		Colorectal(252;0.0747)|Breast(234;0.128)	253					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.757T>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095054	0.76870	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.56275	0.74;0.47	5.14	5.14	0.70334	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.73962	-0.3817	10	0.31617	T	0.26	-8.0762	14.9486	0.71054	0.0:0.0:0.0:1.0	.	253;253	Q15542-2;Q15542	.;TAF5_HUMAN	N	253	ENSP00000358854:Y253N;ENSP00000311024:Y253N	ENSP00000311024:Y253N	Y	+	1	0	TAF5	105123302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.939000	0.56221	0.459000	0.35465	TAC		0.388	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			29	54	29	54	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105420975	105420975	+	Silent	SNP	C	C	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr14:105420975C>A	ENST00000333244.5	-	7	932	c.813G>T	c.(811-813)cgG>cgT	p.R271R	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	271						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCCGGCCCCCGCTTGCTCT	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(811-813)cgG>cgT		AHNAK nucleoprotein 2							30.0	33.0	32.0					14																	105420975		1978	4132	6110	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420975C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.813G>T	14.37:g.105420975C>A							p.R271R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	932	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	271					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.813G>T	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	19	7	19	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25442635	25442635	+	RNA	SNP	G	G	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:25442635G>T	ENST00000424208.1	+	0	1611				SNORD115-16_ENST00000363887.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTTCCTGATGCCCTGGTCTC	0.592																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25442635G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25442635G>T						SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA		NR_003305.1						0	1611	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.592	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			34	69	34	69	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48905245	48905245	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:48905245C>G	ENST00000316623.5	-	3	664	c.209G>C	c.(208-210)gGa>gCa	p.G70A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	70					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTTCCATCCAGGGCAACA	0.383																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(208-210)gGa>gCa		fibrillin 1							146.0	142.0	144.0					15																	48905245		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905245C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.209G>C	15.37:g.48905245C>G	ENSP00000325527:p.Gly70Ala						p.G70A	NM_000138.4	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	664	-		all_lung(180;0.00279)	70					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.209G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051077	0.93740	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.88124	-2.34;-0.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95571	0.8638	10	0.66056	D	0.02	.	18.742	0.91777	0.0:1.0:0.0:0.0	.	70	P35555	FBN1_HUMAN	A	70	ENSP00000325527:G70A;ENSP00000440294:G70A	ENSP00000325527:G70A	G	-	2	0	FBN1	46692537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.227000	0.78070	2.662000	0.90505	0.591000	0.81541	GGA		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			15	134	15	134	---	---	---	---
RPL28	6158	broad.mit.edu	37	19	55898050	55898050	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:55898050A>T	ENST00000344063.2	+	3	823	c.194A>T	c.(193-195)aAg>aTg	p.K65M	RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|TMEM238_ENST00000444469.3_5'Flank			P46779	RL28_HUMAN	ribosomal protein L28	65					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTGGTCATTAAGCGGAGATCC	0.577																																						ENST00000344063.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(193-195)aAg>aTg		ribosomal protein L28							102.0	109.0	107.0					19																	55898050		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55898050A>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.194A>T	19.37:g.55898050A>T	ENSP00000342787:p.Lys65Met					RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M	p.K65M			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	3	823	+	Breast(117;0.191)	Renal(1328;0.245)	65					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.194A>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259343	0.80246	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000428193;ENST00000431533;ENST00000458349	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	3.21	3.21	0.36854	.	0.000000	0.85682	U	0.000000	T	0.79799	0.4508	M	0.94142	3.5	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.81914	0.992;0.995;0.964;0.983;0.994	D	0.83810	0.0241	10	0.87932	D	0	.	10.1188	0.42607	1.0:0.0:0.0:0.0	.	65;65;65;65;65	B4DEP9;E9PB24;C9JB50;G5E9L2;P46779	.;.;.;.;RL28_HUMAN	M	65	ENSP00000342787:K65M;ENSP00000391665:K65M;ENSP00000400596:K65M;ENSP00000401450:K65M	ENSP00000342787:K65M	K	+	2	0	RPL28	60589862	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.027000	0.70881	1.717000	0.51406	0.459000	0.35465	AAG		0.577	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		47	113	47	113	---	---	---	---
ENTPD6	955	broad.mit.edu	37	20	25201904	25201904	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr20:25201904C>T	ENST00000376652.4	+	11	1143	c.980C>T	c.(979-981)tCt>tTt	p.S327F	ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S326F|ENTPD6_ENST00000433259.2_Intron			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	327					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCTTGCTTGTCTCCCAGTTTC	0.512																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(976-978)tCt>tTt		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							155.0	136.0	143.0					20																	25201904		2203	4300	6503	SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25201904C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.980C>T	20.37:g.25201904C>T	ENSP00000365840:p.Ser327Phe					ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F	p.S326F	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			11	1159	+			327					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.977C>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.750248|3.750248	0.69533|0.69533	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000425813	.|T;T;T;T	.|0.10668	.|2.85;2.85;2.85;2.85	5.64|5.64	4.69|4.69	0.59074|0.59074	.|.	.|0.537042	.|0.21923	.|N	.|0.067130	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;P;P	.|0.52463	.|0.923;0.923;0.953;0.831;0.916;0.897;0.897	.|P;P;P;P;P;P;P	.|0.57009	.|0.722;0.722;0.652;0.712;0.811;0.581;0.581	T|T	0.00634|0.00634	-1.1634|-1.1634	5|10	.|0.59425	.|D	.|0.04	-2.7207|-2.7207	14.0297|14.0297	0.64609|0.64609	0.0:0.8487:0.1513:0.0|0.0:0.8487:0.1513:0.0	.|.	.|309;327;327;310;326;326;327	.|B4DDM7;B4DNK6;E7EP89;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;ENTP6_HUMAN	F|F	248|310;326;247;223;327;279	.|ENSP00000347084:S310F;ENSP00000353131:S326F;ENSP00000365840:S327F;ENSP00000390646:S279F	.|ENSP00000347084:S310F	L|S	+|+	1|2	0|0	ENTPD6|ENTPD6	25149904|25149904	0.537000|0.537000	0.26386|0.26386	0.003000|0.003000	0.11579|0.11579	0.982000|0.982000	0.71751|0.71751	4.296000|4.296000	0.59055|0.59055	1.515000|1.515000	0.48885|0.48885	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.512	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			20	43	20	43	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20922879	20922879	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr22:20922879G>C	ENST00000263205.7	+	8	1182	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000382974.2_Missense_Mutation_p.Q300H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	371	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGCAGTACAGACAGCTCAGG	0.617																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1111-1113)caG>caC		mediator complex subunit 15							33.0	34.0	34.0					22																	20922879		2202	4300	6502	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20922879G>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1113G>C	22.37:g.20922879G>C	ENSP00000263205:p.Gln371His					MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H	p.Q371H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		8	1182	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	371			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1113G>C	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288651	0.40494	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	D;D;D	0.84516	-1.86;-1.86;-1.86	5.92	1.3	0.21679	Mediator complex, subunit Med15, metazoa (1);	0.229569	0.45361	D	0.000372	T	0.76506	0.3997	L	0.39898	1.24	0.24601	N	0.993773	P;P;P;P;P	0.43231	0.527;0.527;0.471;0.471;0.801	P;P;B;B;P	0.44518	0.452;0.452;0.323;0.323;0.452	T	0.67035	-0.5772	10	0.45353	T	0.12	.	2.1629	0.03829	0.1748:0.1525:0.515:0.1577	.	317;390;345;371;371	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;MED15_HUMAN	H	260;371;176;371;345;300;345;317	ENSP00000292733:Q371H;ENSP00000384344:Q345H;ENSP00000443137:Q345H	ENSP00000263205:Q371H	Q	+	3	2	MED15	19252879	0.949000	0.32298	0.911000	0.35937	0.711000	0.40976	0.183000	0.16919	0.067000	0.16545	0.655000	0.94253	CAG		0.617	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		12	42	12	42	---	---	---	---
