#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
MYOM3	127294	broad.mit.edu	37	1	24397629	24397629	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:24397629T>C	ENST00000374434.3	-	25	3290	c.3128A>G	c.(3127-3129)aAc>aGc	p.N1043S	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.N1044S|MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1043						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GATCTCCTTGTTGTTGAAGAT	0.567											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3130-3132)aAc>aGc		myomesin 3							72.0	71.0	71.0					1																	24397629		1923	4133	6056	SO:0001583	missense	127294							g.chr1:24397629T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3128A>G	1.37:g.24397629T>C	ENSP00000363557:p.Asn1043Ser		Somatic	OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	771	MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|MYOM3_ENST00000374434.3_Missense_Mutation_p.N1043S|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	p.N1044S			WXS	Illumina GAIIx	Phase_I	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	25	3293	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1043					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3131A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957432	0.53400	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.04706	3.57;3.57;3.57	5.54	4.41	0.53225	Immunoglobulin-like fold (1);	0.323500	0.36628	N	0.002492	T	0.06050	0.0157	L	0.40543	1.245	0.22851	N	0.998654	B;B	0.18166	0.026;0.011	B;B	0.28916	0.096;0.014	T	0.28004	-1.0057	10	0.62326	D	0.03	.	9.2857	0.37755	0.0:0.1484:0.0:0.8516	.	1043;1043	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	S	1043;1044;1043	ENSP00000363557:N1043S;ENSP00000332670:N1044S;ENSP00000328415:N1043S	ENSP00000328415:N1043S	N	-	2	0	MYOM3	24270216	0.986000	0.35501	0.966000	0.40874	0.909000	0.53808	4.369000	0.59511	0.930000	0.37217	0.379000	0.24179	AAC		0.567	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	44	4	44	---	---	---	---
LPPR5	163404	broad.mit.edu	37	1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:99380467C>T	ENST00000263177.4	-	5	1029	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LPPR5_ENST00000370188.3_Missense_Mutation_p.V270M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		270						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TTATTCACCACGCACACAACC	0.393																																						ENST00000370188.3																			0											c.(808-810)Gtg>Atg									158.0	152.0	154.0					1																	99380467		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99380467C>T																												ENST00000263177.4:c.808G>A	1.37:g.99380467C>T	ENSP00000263177:p.Val270Met		Somatic				LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	p.V270M	NM_001010861.2	NP_001010861.1	WXS	Illumina GAIIx	Phase_I	Q32ZL2	LPPR5_HUMAN			5	1168	-			270					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.808G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672630	0.88348	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75477	-0.94;-0.94	5.98	5.98	0.97165	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.063249	0.64402	D	0.000006	D	0.88355	0.6414	M	0.89840	3.065	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.89456	0.3733	10	0.87932	D	0	.	19.4463	0.94849	0.0:1.0:0.0:0.0	.	270;270	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	270	ENSP00000359207:V270M;ENSP00000263177:V270M	ENSP00000263177:V270M	V	-	1	0	AL161744.1	99153055	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.698000	0.74608	2.835000	0.97688	0.650000	0.86243	GTG		0.393	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			19	98	19	98	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262073	158262073	+	Silent	SNP	A	A	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:158262073A>T	ENST00000368170.3	+	3	807	c.528A>T	c.(526-528)acA>acT	p.T176T		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	176					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCACAGAAACAGTGTATAATC	0.478																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(526-528)acA>acT		CD1c molecule							291.0	291.0	291.0					1																	158262073		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262073A>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.528A>T	1.37:g.158262073A>T			Somatic					p.T176T	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	P29017	CD1C_HUMAN			3	807	+	all_hematologic(112;0.0378)		176					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.528A>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	4.473	0.087725	0.08583	.	.	ENSG00000158481	ENST00000443761	.	.	.	3.36	-6.72	0.01755	.	.	.	.	.	T	0.09512	0.0234	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	6.4656	0.21980	0.2122:0.4258:0.362:0.0	.	.	.	.	C	111	.	.	S	+	1	0	CD1C	156528697	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.793000	0.00185	-1.557000	0.01692	0.524000	0.50904	AGT		0.478	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		7	281	7	281	---	---	---	---
LBH	81606	broad.mit.edu	37	2	30480447	30480447	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr2:30480447A>G	ENST00000395323.3	+	3	486	c.278A>G	c.(277-279)gAt>gGt	p.D93G	LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	93					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GATGAGCAAGATAACTGCGAA	0.557																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(277-279)gAt>gGt		limb bud and heart development							51.0	53.0	52.0					2																	30480447		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480447A>G	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.278A>G	2.37:g.30480447A>G	ENSP00000378733:p.Asp93Gly		Somatic				LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000404397.1_Intron	p.D93G	NM_030915.3	NP_112177.2	WXS	Illumina GAIIx	Phase_I	Q53QV2	LBH_HUMAN			3	486	+	Acute lymphoblastic leukemia(172;0.155)		93					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.278A>G	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398774	0.42512	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	4.78	0.61160	.	0.273464	0.36591	N	0.002515	T	0.24005	0.0581	N	0.02011	-0.69	0.44711	D	0.997705	B	0.02656	0.0	B	0.06405	0.002	T	0.07770	-1.0755	9	0.33141	T	0.24	-17.3215	8.2693	0.31833	0.9112:0.0:0.0888:0.0	.	93	Q53QV2	LBH_HUMAN	G	93;99;76	.	ENSP00000378733:D93G	D	+	2	0	LBH	30333951	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	1.796000	0.52611	0.448000	0.29417	GAT		0.557	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		13	25	13	25	---	---	---	---
C6	729	broad.mit.edu	37	5	41160290	41160290	+	Silent	SNP	G	G	T	rs202107773		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr5:41160290G>T	ENST00000263413.3	-	11	1902	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Silent_p.G546G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	546	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACCATAGGTGCCACTCTGAC	0.463																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1636-1638)ggC>ggA		complement component 6							155.0	148.0	150.0					5																	41160290		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160290G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1638C>A	5.37:g.41160290G>T			Somatic				C6_ENST00000337836.5_Silent_p.G546G	p.G546G	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			11	1902	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	546			EGF-like.			Silent	SNP	ENST00000263413.3	37	c.1638C>A	CCDS3936.1																																																																																				0.463	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			19	59	19	59	---	---	---	---
FRS3	10817	broad.mit.edu	37	6	41738928	41738928	+	Missense_Mutation	SNP	C	C	T	rs143790685		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:41738928C>T	ENST00000373018.3	-	7	1159	c.908G>A	c.(907-909)aGc>aAc	p.S303N	FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	303					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCTCTGGGCTCAGTCTCCA	0.652																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(907-909)aGc>aAc		fibroblast growth factor receptor substrate 3							35.0	37.0	37.0					6																	41738928		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738928C>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.908G>A	6.37:g.41738928C>T	ENSP00000362109:p.Ser303Asn		Somatic				FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	p.S303N	NM_006653.3	NP_006644.1	WXS	Illumina GAIIx	Phase_I	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1159	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		303					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.908G>A	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502273	0.64298	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.25912	1.77;1.77	5.49	4.63	0.57726	.	0.505906	0.25813	N	0.028126	T	0.22322	0.0538	M	0.61703	1.905	0.37196	D	0.904138	D	0.60575	0.988	P	0.53313	0.723	T	0.04825	-1.0924	10	0.30078	T	0.28	-28.6689	9.828	0.40923	0.0:0.7829:0.1399:0.0772	.	303	O43559	FRS3_HUMAN	N	303	ENSP00000362109:S303N;ENSP00000259748:S303N	ENSP00000259748:S303N	S	-	2	0	FRS3	41846906	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.118000	0.31246	1.333000	0.45449	-0.122000	0.15005	AGC		0.652	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		8	23	8	23	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A	rs369405391		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19359	0.0		0.0	False		,,,				2504	0.001					ENST00000370598.1																			2	Substitution - Missense(2)	p.R588P(1)|p.R588Q(1)	lung(1)|skin(1)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1762-1764)cGa>cAa		brain-specific angiogenesis inhibitor 3		G	GLN/ARG	0,4406		0,0,2203	212.0	227.0	222.0		1763	5.8	0.7	6		222	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAI3	NM_001704.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	588/1523	69703688	1,13005	2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703688G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1763G>A	6.37:g.69703688G>A	ENSP00000359630:p.Arg588Gln		Somatic					p.R588Q	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			11	2584	+		all_lung(197;0.212)	588					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1763G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722926	0.96847	0.0	1.16E-4	ENSG00000135298	ENST00000370598	T	0.11821	2.74	5.85	5.85	0.93711	Domain of unknown function DUF3497 (1);	0.072165	0.52532	D	0.000077	T	0.28665	0.0710	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00829	-1.1549	10	0.66056	D	0.02	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	588	O60242	BAI3_HUMAN	Q	588	ENSP00000359630:R588Q	ENSP00000359630:R588Q	R	+	2	0	BAI3	69760409	1.000000	0.71417	0.739000	0.30968	0.993000	0.82548	9.837000	0.99465	2.772000	0.95346	0.650000	0.86243	CGA		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			33	171	33	171	---	---	---	---
MYB	4602	broad.mit.edu	37	6	135515025	135515025	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:135515025A>T	ENST00000367814.4	+	7	998	c.812A>T	c.(811-813)aAt>aTt	p.N271I	MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000341911.5_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	271					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AATATAGTCAATGTCCCTCAG	0.413			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(811-813)aAt>aTt		v-myb avian myeloblastosis viral oncogene homolog							178.0	160.0	166.0					6																	135515025		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135515025A>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.812A>T	6.37:g.135515025A>T	ENSP00000356788:p.Asn271Ile		Somatic				MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000367814.4_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I	p.N271I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	WXS	Illumina GAIIx	Phase_I	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	7	1011	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	271					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.812A>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431501	0.83776	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.32515	2.69;2.21;2.2;2.21;1.45;1.9;2.69;2.68;1.87;2.22	5.23	5.23	0.72850	Transcription regulator Wos2-domain (1);	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D;D;D;P;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.992;0.975;1.0;0.716;1.0	D;D;D;D;D;D;P;D;B;D	0.97110	0.993;0.999;0.999;0.998;1.0;0.972;0.843;0.999;0.289;0.999	T	0.16247	-1.0409	10	0.48119	T	0.1	-15.1899	15.1257	0.72481	1.0:0.0:0.0:0.0	.	271;271;247;271;271;271;271;271;271;271	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	I	271;271;271;271;271;271;247;271;271;271;271;271;225	ENSP00000339992:N271I;ENSP00000410825:N271I;ENSP00000326328:N271I;ENSP00000356788:N271I;ENSP00000433227:N271I;ENSP00000435938:N271I;ENSP00000434723:N271I;ENSP00000432851:N271I;ENSP00000435055:N271I;ENSP00000436605:N271I	ENSP00000237302:N271I	N	+	2	0	MYB	135556718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.406000	0.80017	1.973000	0.57446	0.528000	0.53228	AAT		0.413	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			24	61	24	61	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495171	39495171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:39495171G>A	ENST00000265707.5	+	9	821	c.776G>A	c.(775-777)tGg>tAg	p.W259*	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	259	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTTGGCATGGAAACGGGAC	0.358																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(775-777)tGg>tAg		ADAM metallopeptidase domain 18							109.0	105.0	107.0					8																	39495171		2203	4299	6502	SO:0001587	stop_gained	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495171G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.776G>A	8.37:g.39495171G>A	ENSP00000265707:p.Trp259*		Somatic				ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*|ADAM18_ENST00000541111.1_5'UTR	p.W259*	NM_014237.2	NP_055052.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		9	821	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	259			Peptidase M12B.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	ENST00000265707.5	37	c.776G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	37	6.507653	0.97624	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	.	.	.	5.3	5.3	0.74995	.	0.310895	0.23859	N	0.043865	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3999	0.67037	0.0:0.0:1.0:0.0	.	.	.	.	X	259;235;191	.	ENSP00000265707:W259X	W	+	2	0	ADAM18	39614328	1.000000	0.71417	0.983000	0.44433	0.714000	0.41099	5.531000	0.67148	2.781000	0.95711	0.650000	0.86243	TGG		0.358	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		18	65	18	65	---	---	---	---
DNHD1	144132	broad.mit.edu	37	11	6541310	6541310	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:6541310C>T	ENST00000527990.2	+	7	1763	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	DNHD1_ENST00000254579.6_Missense_Mutation_p.S588F|DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	588					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCCTACAGTCTGTCAAGACC	0.483																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1762-1764)tCt>tTt		dynein heavy chain domain 1							90.0	81.0	84.0					11																	6541310		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541310C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1763C>T	11.37:g.6541310C>T	ENSP00000436180:p.Ser588Phe		Somatic				DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F|DNHD1_ENST00000527990.2_Missense_Mutation_p.S588F	p.S588F	NM_144666.2	NP_653267.2	WXS	Illumina GAIIx	Phase_I	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	9	2327	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	588					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1763C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423370	0.43020	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.28666	1.6;2.64;1.6	5.68	1.36	0.22044	.	1.079220	0.07045	N	0.830885	T	0.22742	0.0549	L	0.29908	0.895	0.09310	N	1	B;B	0.17465	0.022;0.009	B;B	0.14023	0.008;0.01	T	0.30794	-0.9966	10	0.62326	D	0.03	.	6.274	0.20971	0.4785:0.4355:0.0:0.086	.	588;588	Q96M86;Q96M86-4	DNHD1_HUMAN;.	F	588	ENSP00000254579:S588F;ENSP00000346716:S588F;ENSP00000436180:S588F	ENSP00000254579:S588F	S	+	2	0	DNHD1	6497886	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	-0.293000	0.08320	0.298000	0.22638	0.561000	0.74099	TCT		0.483	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		13	36	13	36	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606971	55606971	+	Silent	SNP	T	T	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:55606971T>A	ENST00000378396.1	+	1	744	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCCACCTGACTGCCATCACCA	0.507																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(742-744)acT>acA		olfactory receptor, family 5, subfamily D, member 16							145.0	125.0	132.0					11																	55606971		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606971T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.744T>A	11.37:g.55606971T>A			Somatic					p.T248T	NM_001005496.1	NP_001005496.1	WXS	Illumina GAIIx	Phase_I	Q8NGK9	OR5DG_HUMAN			1	744	+		all_epithelial(135;0.208)	248					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.744T>A	CCDS31512.1																																																																																				0.507	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		11	60	11	60	---	---	---	---
AASDHPPT	60496	broad.mit.edu	37	11	105948438	105948438	+	Start_Codon_SNP	SNP	A	A	C	rs370431948		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:105948438A>C	ENST00000278618.4	+	1	223	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	KBTBD3_ENST00000531837.1_5'UTR|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	1					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CTTTCAGTGTATGGTTTTCCC	0.667																																						ENST00000278618.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1-3)Atg>Ctg		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase		A	LEU/MET,,	0,4402		0,0,2201	79.0	70.0	73.0		1,,	2.2	0.3	11		73	1,8597	1.2+/-3.3	0,1,4298	no	missense,utr-5,utr-5	AASDHPPT,KBTBD3	NM_015423.2,NM_152433.3,NM_198439.2	15,,	0,1,6499	CC,CA,AA		0.0116,0.0,0.0077	benign,,	1/310,,	105948438	1,12999	2201	4299	6500	SO:0001582	initiator_codon_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105948438A>C	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.1A>C	11.37:g.105948438A>C	ENSP00000278618:p.Met1Leu		Somatic				KBTBD3_ENST00000531837.1_5'UTR	p.M1L	NM_015423.2	NP_056238.2	WXS	Illumina GAIIx	Phase_I	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	1	223	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	1					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Translation_Start_Site	SNP	ENST00000278618.4	37	c.1A>C	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357279	0.41801	0.0	1.16E-4	ENSG00000149313	ENST00000278618	.	.	.	4.54	2.2	0.27929	.	0.664334	0.14581	N	0.310851	T	0.30324	0.0761	.	.	.	0.25205	N	0.990028	B	0.10296	0.003	B	0.04013	0.001	T	0.26538	-1.0100	8	0.87932	D	0	.	6.03	0.19675	0.7907:0.0:0.2093:0.0	.	1	Q9NRN7	ADPPT_HUMAN	L	1	.	ENSP00000278618:M1L	M	+	1	0	AASDHPPT	105453648	0.456000	0.25744	0.276000	0.24689	0.235000	0.25334	0.792000	0.26929	0.361000	0.24292	0.460000	0.39030	ATG		0.667	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423	Missense_Mutation	8	43	8	43	---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75602590	75602590	+	Splice_Site	SNP	C	C	G			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:75602590C>G	ENST00000303575.4	-	4	463		c.e4-1		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CTTTTGCAATCTGGAAAAGAA	0.368																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e4-1		transmembrane emp24-like trafficking protein 10 (yeast)							70.0	67.0	68.0					14																	75602590		2203	4300	6503	SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75602590C>G	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.412-1G>C	14.37:g.75602590C>G			Somatic				RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	WXS	Illumina GAIIx	Phase_I	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	4	463	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	SNP	ENST00000303575.4	37		CCDS9840.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521318	0.85600	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6584	0.95853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED10	74672343	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.442000	0.80503	2.645000	0.89757	0.460000	0.39030	.		0.368	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	20	40	20	40	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96829289	96829289	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:96829289T>C	ENST00000359933.4	-	1	918	c.25A>G	c.(25-27)Atc>Gtc	p.I9V	GSKIP_ENST00000554182.1_5'Flank|GSKIP_ENST00000555181.1_5'Flank|GSKIP_ENST00000556095.1_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	9					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTCTTCTTGATGGACTCCGAA	0.647																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(25-27)Atc>Gtc		autophagy related 2B							51.0	55.0	54.0					14																	96829289		2099	4231	6330	SO:0001583	missense	55102							g.chr14:96829289T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.25A>G	14.37:g.96829289T>C	ENSP00000353010:p.Ile9Val		Somatic					p.I9V	NM_018036.5	NP_060506	WXS	Illumina GAIIx	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	1	918	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	9					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.25A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008430	0.54361	.	.	ENSG00000066739	ENST00000359933	T	0.41758	0.99	4.02	4.02	0.46733	.	0.000000	0.64402	U	0.000004	T	0.50803	0.1637	L	0.45285	1.41	0.45330	D	0.998324	D	0.59357	0.985	D	0.67548	0.952	T	0.39396	-0.9616	10	0.16420	T	0.52	.	13.0934	0.59178	0.0:0.0:0.0:1.0	.	9	Q96BY7	ATG2B_HUMAN	V	9	ENSP00000353010:I9V	ENSP00000353010:I9V	I	-	1	0	ATG2B	95899042	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	7.106000	0.77039	1.674000	0.50907	0.402000	0.26972	ATC		0.647	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		18	61	18	61	---	---	---	---
LASP1	3927	broad.mit.edu	37	17	37074891	37074891	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:37074891G>A	ENST00000318008.6	+	7	977	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	LASP1_ENST00000435347.3_Missense_Mutation_p.A216T|RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Missense_Mutation_p.A160T	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	216	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CTACAGCGCCGCCGACGAGGA	0.637			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(646-648)Gcc>Acc		LIM and SH3 protein 1							105.0	94.0	98.0					17																	37074891		2203	4300	6503	SO:0001583	missense	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074891G>A		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.646G>A	17.37:g.37074891G>A	ENSP00000325240:p.Ala216Thr		Somatic				LASP1_ENST00000433206.2_Missense_Mutation_p.A160T|LASP1_ENST00000435347.3_Missense_Mutation_p.A216T	p.A216T	NM_006148.2	NP_006139.1	WXS	Illumina GAIIx	Phase_I	Q14847	LASP1_HUMAN			7	977	+			216			SH3.		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	c.646G>A	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.771642	0.96922	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	T;T;T	0.45276	0.9;0.9;0.9	5.39	5.39	0.77823	Src homology-3 domain (4);	3.275460	0.01554	N	0.019794	T	0.62356	0.2421	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.832;0.999	T	0.44251	-0.9340	10	0.72032	D	0.01	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	160;216	B4DGQ0;Q14847	.;LASP1_HUMAN	T	216;160;216	ENSP00000325240:A216T;ENSP00000401048:A160T;ENSP00000392853:A216T	ENSP00000325240:A216T	A	+	1	0	LASP1	34328417	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	7.795000	0.85887	2.540000	0.85666	0.462000	0.41574	GCC		0.637	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		26	69	26	69	---	---	---	---
INTS2	57508	broad.mit.edu	37	17	60003895	60003895	+	Silent	SNP	A	A	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:60003895A>C	ENST00000444766.3	-	2	210	c.135T>G	c.(133-135)ctT>ctG	p.L45L	INTS2_ENST00000251334.6_Silent_p.L37L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	45					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AACAGGGCAGAAGAAGTCTTA	0.478																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(133-135)ctT>ctG		integrator complex subunit 2							73.0	68.0	70.0					17																	60003895		1925	4141	6066	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60003895A>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.135T>G	17.37:g.60003895A>C			Somatic				INTS2_ENST00000251334.6_Silent_p.L37L	p.L45L	NM_020748.2	NP_065799	WXS	Illumina GAIIx	Phase_I	Q9H0H0	INT2_HUMAN			2	210	-			45					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.135T>G	CCDS45750.1																																																																																				0.478	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		6	14	6	14	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33324502	33324502	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33324502G>A	ENST00000374796.2	-	13	8524	c.5954C>T	c.(5953-5955)gCc>gTc	p.A1985V	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1985	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACCTGGTCTGGCAACAGAGGC	0.453																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5953-5955)gCc>gTc		nuclear receptor coactivator 6							94.0	82.0	86.0					20																	33324502		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33324502G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5954C>T	20.37:g.33324502G>A	ENSP00000363929:p.Ala1985Val		Somatic				NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V	p.A1985V			WXS	Illumina GAIIx	Phase_I	Q14686	NCOA6_HUMAN			13	8524	-			1985			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.5954C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103898	0.37145	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23552	1.9;1.9	5.82	2.55	0.30701	.	0.679259	0.14001	N	0.348120	T	0.12050	0.0293	N	0.14661	0.345	0.24698	N	0.993273	B	0.02656	0.0	B	0.01281	0.0	T	0.21793	-1.0235	10	0.28530	T	0.3	0.028	3.2011	0.06650	0.0928:0.1318:0.5268:0.2486	.	1985	Q14686	NCOA6_HUMAN	V	1985	ENSP00000363929:A1985V;ENSP00000351894:A1985V	ENSP00000351894:A1985V	A	-	2	0	NCOA6	32788163	1.000000	0.71417	0.995000	0.50966	0.628000	0.37860	1.872000	0.39549	0.791000	0.33826	0.591000	0.81541	GCC		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	52	3	52	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33440316	33440316	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33440316C>A	ENST00000336431.5	-	11	1389	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	449					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTGATATGGCCCCGGAGGTAG	0.582																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1345-1347)Ggc>Tgc		gamma-glutamyltransferase 7							39.0	43.0	42.0					20																	33440316		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440316C>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1345G>T	20.37:g.33440316C>A	ENSP00000338964:p.Gly449Cys		Somatic					p.G449C	NM_178026.2	NP_821158.2	WXS	Illumina GAIIx	Phase_I	Q9UJ14	GGT7_HUMAN			11	1389	-			449					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.1345G>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645896	0.87958	.	.	ENSG00000131067	ENST00000336431	T	0.06608	3.28	6.17	5.18	0.71444	.	0.112979	0.64402	D	0.000011	T	0.08980	0.0222	N	0.10645	0.015	0.44048	D	0.996786	D;D	0.63880	0.993;0.993	P;P	0.60173	0.815;0.87	T	0.32188	-0.9916	10	0.56958	D	0.05	-25.6616	13.7085	0.62654	0.0:0.7548:0.2452:0.0	.	449;449	A4FU32;Q9UJ14	.;GGT7_HUMAN	C	449	ENSP00000338964:G449C	ENSP00000338964:G449C	G	-	1	0	GGT7	32903977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.697000	0.47060	2.941000	0.99782	0.655000	0.94253	GGC		0.582	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		9	48	9	48	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54783701	54783701	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chrX:54783701G>T	ENST00000218436.6	-	8	2835	c.2806C>A	c.(2806-2808)Ccc>Acc	p.P936T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	936	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTCCAGGGGGCAGAGTGGGA	0.562																																						ENST00000218436.6																			0											c.(2806-2808)Ccc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 6							62.0	58.0	59.0					X																	54783701		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783701G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2806C>A	X.37:g.54783701G>T	ENSP00000218436:p.Pro936Thr		Somatic					p.P936T	NM_198510.2	NP_940912.1	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			8	2835	-			936			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2806C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	2.583	-0.296887	0.05532	.	.	ENSG00000102313	ENST00000218436	T	0.03065	4.06	3.88	0.798	0.18660	.	4.604970	0.01130	N	0.005960	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	P	0.37330	0.59	B	0.27262	0.078	T	0.33854	-0.9852	10	0.46703	T	0.11	.	2.3585	0.04301	0.2849:0.0:0.4714:0.2437	.	936	Q6UXX5	ITH5L_HUMAN	T	936	ENSP00000218436:P936T	ENSP00000218436:P936T	P	-	1	0	ITIH5L	54800426	0.338000	0.24775	0.010000	0.14722	0.040000	0.13550	1.737000	0.38197	0.594000	0.29761	0.506000	0.49869	CCC		0.562	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		11	13	11	13	---	---	---	---
