#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRPM5	29850	broad.mit.edu	37	11	2433483	2433483	+	Splice_Site	SNP	C	C	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr11:2433483C>G	ENST00000155858.6	-	16	2364	c.2356G>C	c.(2356-2358)Ggc>Cgc	p.G786R	TRPM5_ENST00000533060.1_Splice_Site_p.G786R|TRPM5_ENST00000452833.1_Splice_Site_p.G788R|TRPM5_ENST00000528453.1_Splice_Site_p.G786R	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGAAGAAGCCCTGGGAGGGA	0.562																																					NSCLC(1;49 61 17205 18850 43201)	uc010qxl.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.e16-1		Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.							181.0	155.0	164.0					11																	2433483		2202	4299	6501	SO:0001630	splice_region_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2433483C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2356-1G>C	11.37:g.2433483C>G			Somatic				TRPM5_uc001lwm.4_Splice_Site_p.G786_splice|TRPM5_uc009ydn.3_Splice_Site_p.G788_splice	p.G786_splice	NM_014555	NP_055370	WXS	Illumina GAIIx	Phase_I	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	16	2365	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	786						Splice_Site	SNP	ENST00000155858.6	37	c.2356_splice	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266868	0.40095	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.54	4.54	0.55810	Ion transport (1);	0.246814	0.41605	D	0.000859	T	0.70316	0.3210	M	0.65498	2.005	0.45867	D	0.998728	D;D;D	0.54207	0.957;0.957;0.965	P;P;P	0.60473	0.779;0.779;0.875	T	0.71217	-0.4658	10	0.49607	T	0.09	-33.8685	6.99	0.24750	0.0:0.7975:0.0:0.2025	.	786;788;786	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	R	780;786;788;786;786;786	ENSP00000434383:G780R;ENSP00000155858:G786R;ENSP00000387965:G788R;ENSP00000434121:G786R;ENSP00000436809:G786R	ENSP00000155858:G786R	G	-	1	0	TRPM5	2390059	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.137000	0.58010	2.257000	0.74773	0.591000	0.81541	GGC		0.562	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555	Missense_Mutation	46	101	0	0	0	1	0	46	101				
ATF6B	1388	broad.mit.edu	37	6	32083526	32083526	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:32083526T>C	ENST00000375203.3	-	18	2134	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	ATF6B_ENST00000375201.4_Missense_Mutation_p.N698S	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	701					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGGATGATTGAGGTAGAG	0.612																																						uc003nzn.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(2101-2103)aAt>aGt		Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.							65.0	74.0	71.0					6																	32083526		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32083526T>C		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2102A>G	6.37:g.32083526T>C	ENSP00000364349:p.Asn701Ser		Somatic				TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.N698S	p.N701S	NM_004381	NP_004372	WXS	Illumina GAIIx	Phase_I	Q99941	ATF6B_HUMAN			17	2135	-			701					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.2102A>G	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	t	6.719	0.501432	0.12822	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.55052	0.54;1.28	5.32	2.67	0.31697	.	0.917755	0.08960	U	0.868870	T	0.11922	0.0290	N	0.08118	0	0.24507	N	0.994222	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.25779	-1.0122	10	0.28530	T	0.3	-3.3207	5.223	0.15379	0.0:0.2687:0.0:0.7313	.	698;701	Q99941-2;Q99941	.;ATF6B_HUMAN	S	701;698	ENSP00000364349:N701S;ENSP00000364347:N698S	ENSP00000364347:N698S	N	-	2	0	ATF6B	32191504	0.026000	0.19158	0.963000	0.40424	0.007000	0.05969	-0.084000	0.11268	0.985000	0.38656	0.456000	0.33151	AAT		0.612	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	113	0	0	0	1	0	5	113				
ERGIC2	51290	broad.mit.edu	37	12	29509405	29509405	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr12:29509405T>C	ENST00000360150.4	-	8	557	c.482A>G	c.(481-483)gAt>gGt	p.D161G		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	161					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.D161A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TGATGAATCATCTTCTCTGTT	0.308																																						uc001riv.3																			1	Substitution - Missense(1)	p.D161A(2)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(481-483)gAt>gGt		Homo sapiens ERGIC and golgi 2 (ERGIC2), mRNA.	Arsenic trioxide(DB01169)						121.0	117.0	118.0					12																	29509405		1814	4086	5900	SO:0001583	missense	51290				vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|nucleus		g.chr12:29509405T>C	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.482A>G	12.37:g.29509405T>C	ENSP00000353270:p.Asp161Gly		Somatic				ERGIC2_uc001riw.3_Non-coding_Transcript	p.D161G	NM_016570	NP_057654	WXS	Illumina GAIIx	Phase_I	Q96RQ1	ERGI2_HUMAN			7	615	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		161					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.482A>G	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.95|10.95	1.495052|1.495052	0.26774|0.26774	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023;ENST00000546839;ENST00000550353;ENST00000552132|ENST00000551467	.|.	.|.	.|.	4.96|4.96	3.78|3.78	0.43462|0.43462	.|.	0.101889|.	0.64402|.	D|.	0.000003|.	T|T	0.62660|0.62660	0.2446|0.2446	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.19445|.	0.036|.	B|.	0.21917|.	0.037|.	T|T	0.59064|0.59064	-0.7524|-0.7524	9|5	0.19147|.	T|.	0.46|.	.|.	9.9219|9.9219	0.41470|0.41470	0.0:0.0:0.1718:0.8281|0.0:0.0:0.1718:0.8281	.|.	161|.	Q96RQ1|.	ERGI2_HUMAN|.	G|V	161;169;161;143;161|18	.|.	ENSP00000201023:D169G|.	D|M	-|-	2|1	0|0	ERGIC2|ERGIC2	29400672|29400672	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.937000|0.937000	0.57800|0.57800	5.444000|5.444000	0.66587|0.66587	0.710000|0.710000	0.31997|0.31997	0.477000|0.477000	0.44152|0.44152	GAT|ATG		0.308	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		4	76	0	0	0	1	0	4	76				
MYH1	4619	broad.mit.edu	37	17	10404034	10404034	+	Silent	SNP	A	A	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr17:10404034A>G	ENST00000226207.5	-	28	3868	c.3774T>C	c.(3772-3774)gaT>gaC	p.D1258D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1258					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTCAGTTGATCTTCTAGAG	0.468																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3772-3774)gaT>gaC		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							162.0	142.0	148.0					17																	10404034		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:10404034A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3774T>C	17.37:g.10404034A>G			Somatic				AK097500_uc002gml.1_Intron	p.D1258D	NM_005963	NP_005954	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			27	3868	-			1258					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.3774T>C	CCDS11155.1																																																																																				0.468	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		4	90	0	0	0	1	0	4	90				
ABCC10	89845	broad.mit.edu	37	6	43400340	43400340	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:43400340G>T	ENST00000372530.4	+	3	837	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.D165Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	208				D -> E (in Ref. 1; AAK39642). {ECO:0000305}.	transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGCCCGAGGATCAAGAACC	0.637																																						uc003ouy.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(622-624)Gat>Tat		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.							72.0	74.0	73.0					6																	43400340		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400340G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.622G>T	6.37:g.43400340G>T	ENSP00000361608:p.Asp208Tyr		Somatic				ABCC10_uc003ouz.1_Missense_Mutation_p.D165Y	p.D208Y	NM_001198934	NP_001185863	WXS	Illumina GAIIx	Phase_I	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		2	837	+	all_lung(25;0.00536)		208	D -> E (in Ref. 1; AAK39642).				Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.622G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	2.968	-0.213134	0.06140	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91577	-2.87;-2.84	5.54	1.59	0.23543	.	2.215120	0.01480	N	0.016644	T	0.64249	0.2581	N	0.08118	0	0.09310	N	1	P;B	0.39696	0.683;0.013	B;B	0.37198	0.243;0.015	T	0.68637	-0.5356	10	0.52906	T	0.07	-18.0169	1.2484	0.01977	0.3857:0.1843:0.2989:0.131	.	165;208	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	208;165	ENSP00000361608:D208Y;ENSP00000244533:D165Y	ENSP00000244533:D165Y	D	+	1	0	ABCC10	43508318	0.000000	0.05858	0.016000	0.15963	0.098000	0.18820	-0.051000	0.11885	0.294000	0.22547	-0.291000	0.09656	GAT		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		18	135	0	0	0	1	0	18	135				
CCDC27	148870	broad.mit.edu	37	1	3677920	3677920	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:3677920G>A	ENST00000294600.2	+	5	871	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	263										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGGAGAGGGAGGCCCTGAA	0.592																																						uc001akv.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(787-789)Gag>Aag		Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.							80.0	76.0	78.0					1																	3677920		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3677920G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.787G>A	1.37:g.3677920G>A	ENSP00000294600:p.Glu263Lys		Somatic					p.E263K	NM_152492	NP_689705	WXS	Illumina GAIIx	Phase_I	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	4	868	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	263					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.787G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452402	0.43531	.	.	ENSG00000162592	ENST00000294600	T	0.22134	1.97	3.75	3.75	0.43078	.	0.000000	0.43579	D	0.000551	T	0.32793	0.0841	L	0.32530	0.975	0.33532	D	0.59374	D	0.89917	1.0	D	0.83275	0.996	T	0.42632	-0.9440	10	0.56958	D	0.05	-36.4106	11.808	0.52167	0.0:0.0:1.0:0.0	.	263	Q2M243	CCD27_HUMAN	K	263	ENSP00000294600:E263K	ENSP00000294600:E263K	E	+	1	0	CCDC27	3667780	1.000000	0.71417	0.589000	0.28718	0.380000	0.30137	2.879000	0.48522	2.059000	0.61396	0.563000	0.77884	GAG		0.592	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		8	71	0	0	0	1	0	8	71				
MIA3	375056	broad.mit.edu	37	1	222825616	222825616	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:222825616A>C	ENST00000344922.5	+	13	4053	c.4028A>C	c.(4027-4029)aAg>aCg	p.K1343T	MIA3_ENST00000340535.7_Missense_Mutation_p.K221T|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K1343T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1343					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGAAGGTGAAGTCTGAATGC	0.378																																						uc001hnl.3																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4027-4029)aAg>aCg		Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.							164.0	157.0	159.0					1																	222825616		1865	4100	5965	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222825616A>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4028A>C	1.37:g.222825616A>C	ENSP00000340900:p.Lys1343Thr		Somatic				MIA3_uc009xea.1_Intron|MIA3_uc001hnm.3_Missense_Mutation_p.K221T	p.K1343T	NM_198551	NP_940953	WXS	Illumina GAIIx	Phase_I	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	12	4037	+			1343					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4028A>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179133	0.78564	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	T;T;T	0.71222	-0.55;-0.55;-0.55	5.89	4.77	0.60923	.	.	.	.	.	T	0.78824	0.4344	M	0.68593	2.085	0.37709	D	0.924511	D;D	0.69078	0.985;0.997	P;D	0.63957	0.842;0.92	T	0.80495	-0.1357	9	0.46703	T	0.11	.	9.0893	0.36601	0.8591:0.0:0.1409:0.0	.	221;1343	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1343;1343;221;221	ENSP00000340900:K1343T;ENSP00000340587:K1343T;ENSP00000345866:K221T	ENSP00000284471:K221T	K	+	2	0	MIA3	220892239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.525000	0.53502	1.056000	0.40484	0.533000	0.62120	AAG		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		6	103	0	0	0	1	0	6	103				
MUC16	94025	broad.mit.edu	37	19	9049003	9049003	+	Silent	SNP	T	T	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:9049003T>A	ENST00000397910.4	-	5	32831	c.32628A>T	c.(32626-32628)ggA>ggT	p.G10876G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10878	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCACTACTCCTGGTACCT	0.478																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32626-32628)ggA>ggT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							100.0	90.0	93.0					19																	9049003		1931	4130	6061	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049003T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32628A>T	19.37:g.9049003T>A			Somatic					p.G10876G	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			4	32832	-			10878			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32628A>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	110	0	0	0	1	0	14	110				
MYO5A	4644	broad.mit.edu	37	15	52605985	52605985	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:52605985G>A	ENST00000399231.3	-	41	5719	c.5476C>T	c.(5476-5478)Cct>Tct	p.P1826S	MYO5A_ENST00000399233.2_Missense_Mutation_p.P1823S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1851S|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1799S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1824S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1826					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAGGTGACAGGAAAGATGTGT	0.473																																						uc002aby.2																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5476-5478)Cct>Tct		Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.							121.0	119.0	120.0					15																	52605985		1885	4121	6006	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr15:52605985G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5476C>T	15.37:g.52605985G>A	ENSP00000382177:p.Pro1826Ser		Somatic				MYO5A_uc002abx.3_Missense_Mutation_p.P1799S|MYO5A_uc010ugd.1_Missense_Mutation_p.P548S	p.P1826S	NM_000259	NP_000250	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	40	5720	-			1826					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.5476C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956632	0.73902	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.19	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.84683	2.71	0.80722	D	1	P;P;B	0.47106	0.89;0.881;0.11	B;P;B	0.45071	0.408;0.468;0.029	D	0.91973	0.5588	10	0.72032	D	0.01	.	20.2216	0.98326	0.0:0.0:1.0:0.0	.	556;1826;1799	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	S	1826;1333;1823;1799;1851;1429;1824	ENSP00000382177:P1826S;ENSP00000382179:P1823S;ENSP00000348693:P1799S;ENSP00000350945:P1851S;ENSP00000451109:P1824S	ENSP00000348693:P1799S	P	-	1	0	MYO5A	50393277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.724000	0.74747	2.860000	0.98153	0.655000	0.94253	CCT		0.473	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		4	59	0	0	0	1	0	4	59				
RPL4	6124	broad.mit.edu	37	15	66792426	66792426	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:66792426G>A	ENST00000307961.6	-	9	1098	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SNAPC5_ENST00000563480.2_5'Flank|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.R242C|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000395589.2_5'Flank|SNORD16_ENST00000362803.1_RNA|SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000316634.5_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	336					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGTTCCGGCGCATGGTCTTT	0.448																																						uc002apv.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1006-1008)Cgc>Tgc		Homo sapiens ribosomal protein L4 (RPL4), mRNA.							90.0	79.0	82.0					15																	66792426		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome	g.chr15:66792426G>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1006C>T	15.37:g.66792426G>A	ENSP00000311430:p.Arg336Cys		Somatic				SNAPC5_uc002apu.1_5'Flank|RPL4_uc002apx.3_Missense_Mutation_p.R242C	p.R336C	NM_000968	NP_000959	WXS	Illumina GAIIx	Phase_I	P36578	RL4_HUMAN			8	1071	-			336					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.1006C>T	CCDS10218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.400612|4.400612	0.83120|0.83120	.|.	.|.	ENSG00000174444|ENSG00000174444	ENST00000449253|ENST00000307961;ENST00000432669	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70456|0.70456	0.3226|0.3226	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|P	.|0.48089	.|0.905	.|P	.|0.47786	.|0.557	T|T	0.76372|0.76372	-0.2983|-0.2983	6|9	0.02654|0.87932	T|D	1|0	-4.5244|-4.5244	13.8452|13.8452	0.63463|0.63463	0.0:0.0:0.8473:0.1526|0.0:0.0:0.8473:0.1526	.|.	.|336	.|P36578	.|RL4_HUMAN	V|C	135|336	.|.	ENSP00000403183:A135V|ENSP00000311430:R336C	A|R	-|-	2|1	0|0	RPL4|RPL4	64579480|64579480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.242000|5.242000	0.65389|0.65389	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.448	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		12	70	0	0	0	1	0	12	70				
ALG13	79868	broad.mit.edu	37	X	110951444	110951444	+	Silent	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chrX:110951444T>C	ENST00000394780.3	+	4	585	c.573T>C	c.(571-573)gcT>gcC	p.A191A	ALG13_ENST00000251943.4_Silent_p.A87A|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	191	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTTGCCACGCTTTTTTTCCTC	0.483																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(571-573)gcT>gcC		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							133.0	111.0	118.0					X																	110951444		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	g.chrX:110951444T>C	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.573T>C	X.37:g.110951444T>C			Somatic				ALG13_uc011msw.2_Silent_p.A113A|ALG13_uc011msx.2_Silent_p.A87A|ALG13_uc011msz.2_Silent_p.A113A|ALG13_uc011mta.2_Silent_p.A87A|ALG13_uc011mtb.2_Silent_p.A87A	p.A191A	NM_001099922	NP_001093392	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			3	674	+			191					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.573T>C	CCDS55477.1																																																																																				0.483	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		3	84	0	0	0	1	0	3	84				
IFI16	3428	broad.mit.edu	37	1	158990261	158990261	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:158990261G>A	ENST00000295809.7	+	6	1358	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	IFI16_ENST00000359709.3_Missense_Mutation_p.R312Q|IFI16_ENST00000430894.2_Missense_Mutation_p.R316Q|IFI16_ENST00000368132.3_Missense_Mutation_p.R368Q|IFI16_ENST00000368131.4_Missense_Mutation_p.R368Q|IFI16_ENST00000448393.2_Missense_Mutation_p.R368Q|IFI16_ENST00000340979.6_Missense_Mutation_p.R368Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	368	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TTCTGCTTTCGACTTAGAAAA	0.358																																						uc001ftg.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1102-1104)cGa>cAa		Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.							79.0	90.0	86.0					1																	158990261		2203	4300	6503	SO:0001583	missense	3428				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158990261G>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1103G>A	1.37:g.158990261G>A	ENSP00000295809:p.Arg368Gln		Somatic				IFI16_uc010pis.2_Missense_Mutation_p.R312Q|IFI16_uc010pit.2_Missense_Mutation_p.R368Q	p.R368Q	NM_005531	NP_005522	WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			5	1393	+	all_hematologic(112;0.0429)		368			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1103G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.91|10.91	1.485342|1.485342	0.26686|0.26686	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56;2.56	2.64|2.64	-1.94|-1.94	0.07571|0.07571	.|.	.|.	.|.	.|.	.|.	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|P;P	.|0.36633	.|0.562;0.507	.|B;B	.|0.29524	.|0.103;0.063	T|T	0.43766|0.43766	-0.9371|-0.9371	5|9	.|0.08837	.|T	.|0.75	.|.	6.0461|6.0461	0.19760|0.19760	0.6069:0.0:0.3931:0.0|0.6069:0.0:0.3931:0.0	.|.	.|316;368	.|E7EPR3;Q16666-2	.|.;.	N|Q	189|368;368;368;368;316	.|ENSP00000295809:R368Q;ENSP00000342741:R368Q;ENSP00000357113:R368Q;ENSP00000357114:R368Q;ENSP00000394935:R316Q	.|ENSP00000295809:R368Q	D|R	+|+	1|2	0|0	IFI16|IFI16	157256885|157256885	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	0.010000|0.010000	0.13242|0.13242	-0.572000|-0.572000	0.06006|0.06006	-0.258000|-0.258000	0.10820|0.10820	GAC|CGA		0.358	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		42	43	0	0	0	1	0	42	43				
CHMP4B	128866	broad.mit.edu	37	20	32440008	32440009	+	Splice_Site	DNP	CG	CG	AT	rs201373276		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr20:32440008_32440009CG>AT	ENST00000217402.2	+	4	774_775	c.609_610CG>AT	c.(607-612)ccCGcc>ccATcc	p.A204S		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	204					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						CATCAAAACCCGGTGAGTGCTT	0.495																																						uc002xaa.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.e4+1		Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA.																																				SO:0001630	splice_region_variant	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32440008_32440009CG>AT	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	Exception_encountered	20.37:g.32440008_32440009delinsAT			Somatic					p.A204_splice	NM_176812	NP_789782	WXS	Illumina GAIIx	Phase_I	Q9H444	CHM4B_HUMAN			4	775	+			204					E1P5N4|Q53ZD6	Splice_Site	DNP	ENST00000217402.2	37	c.610_splice	CCDS13228.1																																																																																				0.495	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2		Missense_Mutation	5	176	0	0	0	1	0	5	176				
TCF3	6929	broad.mit.edu	37	19	1627410	1627410	+	Missense_Mutation	SNP	C	C	T	rs535762587		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:1627410C>T	ENST00000262965.5	-	6	658	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	TCF3_ENST00000395423.3_Missense_Mutation_p.R54Q|TCF3_ENST00000588136.1_Missense_Mutation_p.R105Q|TCF3_ENST00000344749.5_Missense_Mutation_p.R105Q|TCF3_ENST00000453954.2_Missense_Mutation_p.R21Q	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAGGCGCCCCGCTCACCGCT	0.617			T	"""PBX1, HLF, TFPT"""	pre B-ALL								C|||	1	0.000199681	0.0	0.0	5008	,	,		13811	0.001		0.0	False		,,,				2504	0.0					uc002ltq.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(160-162)cGg>cAg		Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.							20.0	24.0	22.0					19																	1627410		2187	4297	6484	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1627410C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.314G>A	19.37:g.1627410C>T	ENSP00000262965:p.Arg105Gln		Somatic				TCF3_uc002ltt.4_Missense_Mutation_p.R105Q|TCF3_uc002ltr.3_Missense_Mutation_p.R105Q|TCF3_uc002lts.1_Missense_Mutation_p.R21Q	p.R54Q	NM_003200	NP_003191	WXS	Illumina GAIIx	Phase_I	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	200	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	105					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.161G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627406	0.66901	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.69175	-0.38;-0.38;-0.38	3.48	2.41	0.29592	.	0.071564	0.51477	D	0.000090	T	0.78704	0.4325	M	0.78916	2.43	0.36532	D	0.870774	D;D;D	0.89917	1.0;0.999;0.999	P;D;P	0.72625	0.902;0.978;0.836	T	0.82663	-0.0346	10	0.87932	D	0	-8.8555	9.929	0.41510	0.2048:0.7951:0.0:0.0	.	105;105;54	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	Q	105;105;105;54	ENSP00000262965:R105Q;ENSP00000344375:R105Q;ENSP00000378813:R54Q	ENSP00000262965:R105Q	R	-	2	0	TCF3	1578410	0.876000	0.30132	0.788000	0.31933	0.030000	0.12068	2.604000	0.46274	0.777000	0.33496	0.462000	0.41574	CGG		0.617	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		9	11	0	0	0	1	0	9	11				
FRRS1	391059	broad.mit.edu	37	1	100181191	100181191	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:100181191G>T	ENST00000414213.1	-	12	1875	c.1274C>A	c.(1273-1275)aCc>aAc	p.T425N	FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.T425N			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	425	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGCAATGCAGGTGAGGACAGT	0.373																																						uc001dsh.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1273-1275)aCc>aAc		Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.							108.0	104.0	105.0					1																	100181191		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100181191G>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1274C>A	1.37:g.100181191G>T	ENSP00000393884:p.Thr425Asn		Somatic				MIR548D1_uc021oqn.1_5'Flank	p.T425N	NM_001013660	NP_001013682	WXS	Illumina GAIIx	Phase_I	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	11	1876	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	425			Cytochrome b561.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1274C>A		.	.	.	.	.	.	.	.	.	.	G	17.23	3.335587	0.60853	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80264	-0.1455	9	0.40728	T	0.16	-16.6896	18.2491	0.89997	0.0:0.0:1.0:0.0	.	425	Q6ZNA5-2	.	N	425	.	ENSP00000287474:T425N	T	-	2	0	FRRS1	99953779	1.000000	0.71417	0.995000	0.50966	0.288000	0.27193	6.546000	0.73887	2.718000	0.92993	0.460000	0.39030	ACC		0.373	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		23	59	0	0	0	1	0	23	59				
BRINP3	339479	broad.mit.edu	37	1	190129933	190129933	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:190129933T>G	ENST00000367462.3	-	7	1280	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	BRINP3_ENST00000534846.1_Missense_Mutation_p.N248T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	350					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GCGCTGAAAATTAGAATCCAT	0.353																																						uc001gse.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1048-1050)aAt>aCt		Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.							121.0	130.0	127.0					1																	190129933		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190129933T>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1049A>C	1.37:g.190129933T>G	ENSP00000356432:p.Asn350Thr		Somatic				FAM5C_uc010pot.1_Missense_Mutation_p.N248T	p.N350T	NM_199051	NP_950252	WXS	Illumina GAIIx	Phase_I	Q76B58	FAM5C_HUMAN			6	1281	-	Prostate(682;0.198)		350					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1049A>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759336	0.31137	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.17370	2.54;2.28	5.75	3.39	0.38822	.	0.486595	0.22677	N	0.056995	T	0.12263	0.0298	L	0.38175	1.15	0.30360	N	0.783922	B;B	0.15141	0.008;0.012	B;B	0.14023	0.01;0.005	T	0.20706	-1.0267	10	0.20519	T	0.43	.	8.3029	0.32025	0.0:0.1718:0.0:0.8282	.	248;350	B7Z260;Q76B58	.;FAM5C_HUMAN	T	350;248	ENSP00000356432:N350T;ENSP00000438022:N248T	ENSP00000356432:N350T	N	-	2	0	FAM5C	188396556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.028000	0.30128	0.426000	0.26116	0.467000	0.42956	AAT		0.353	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		4	134	0	0	0	1	0	4	134				
TTC16	158248	broad.mit.edu	37	9	130487098	130487098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr9:130487098delT	ENST00000373289.3	+	9	1261	c.1181delT	c.(1180-1182)ctgfs	p.L394fs	TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR|PTRH1_ENST00000429848.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	394										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCGCTGGCGCTGAGCCCTCAG	0.682																																						uc004brq.1																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1180-1182)ctgfs		Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.							13.0	12.0	12.0					9																	130487098		2188	4285	6473	SO:0001589	frameshift_variant	158248						binding	g.chr9:130487098delT	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1181delT	9.37:g.130487098delT	ENSP00000362386:p.Leu394fs		Somatic				PTRH1_uc011mah.2_5'UTR|TTC16_uc011mai.1_Frame_Shift_Del_p.L381fs|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'UTR	p.L394fs	NM_144965	NP_659402	WXS	Illumina GAIIx	Phase_I	Q8NEE8	TTC16_HUMAN			8	1248	+			394					B4DYG4|B5ME24|Q5JU66|Q96M72	Frame_Shift_Del	DEL	ENST00000373289.3	37	c.1181delT	CCDS6875.1																																																																																				0.682	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		15	14						15	14	---	---	---	---
