#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		4	14	0	0	0	0.001168	0	4	14				
LDHD	197257	broad.mit.edu	37	16	75149130	75149130	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr16:75149130C>T	ENST00000450168.2	-	3	343	c.293G>A	c.(292-294)gGc>gAc	p.G98D	LDHD_ENST00000300051.4_Missense_Mutation_p.G98D	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						AAGCCCGGTGCCGGTGCCGAA	0.672																																						ENST00000300051.4																			0				endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						c.(292-294)gGc>gAc		lactate dehydrogenase D							71.0	73.0	72.0					16																	75149130		2198	4300	6498	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75149130C>T	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.293G>A	16.37:g.75149130C>T	ENSP00000417011:p.Gly98Asp					LDHD_ENST00000450168.2_Missense_Mutation_p.G98D	p.G98D	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN			3	339	-			98			FAD-binding PCMH-type.			Missense_Mutation	SNP	ENST00000450168.2	37	c.293G>A	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953578	0.92660	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.98455	-4.94;-4.94	5.05	5.05	0.67936	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.107189	0.64402	N	0.000005	D	0.99369	0.9778	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.98512	1.0619	10	0.87932	D	0	-26.3232	18.4077	0.90541	0.0:1.0:0.0:0.0	.	98;98	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	D	98	ENSP00000417011:G98D;ENSP00000300051:G98D	ENSP00000300051:G98D	G	-	2	0	LDHD	73706631	1.000000	0.71417	0.982000	0.44146	0.831000	0.47069	5.248000	0.65421	2.363000	0.80096	0.462000	0.41574	GGC		0.672	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		4	133	0	0	0	0.009096	0	4	133				
OR5K4	403278	broad.mit.edu	37	3	98073605	98073605	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:98073605G>A	ENST00000354924.2	+	1	908	c.908G>A	c.(907-909)aGg>aAg	p.R303K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAAATTATGAGGAATTATAAC	0.249																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(907-909)aGg>aAg		olfactory receptor, family 5, subfamily K, member 4							74.0	93.0	86.0					3																	98073605		2165	4249	6414	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073605G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.908G>A	3.37:g.98073605G>A	ENSP00000347003:p.Arg303Lys					RP11-325B23.2_ENST00000508616.1_lincRNA	p.R303K	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	908	+			303						Missense_Mutation	SNP	ENST00000354924.2	37	c.908G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	0.435	-0.901539	0.02453	.	.	ENSG00000196098	ENST00000354924	T	0.37235	1.21	4.83	-2.44	0.06502	.	1.519390	0.04912	N	0.453335	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34576	-0.9823	10	0.02654	T	1	2.8877	12.6707	0.56866	0.326:0.0:0.674:0.0	.	303	A6NMS3	OR5K4_HUMAN	K	303	ENSP00000347003:R303K	ENSP00000347003:R303K	R	+	2	0	OR5K4	99556295	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-1.709000	0.01890	-0.535000	0.06307	-0.310000	0.09108	AGG		0.249	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			60	138	0	0	0	0.014410	0	60	138				
FBXO38	81545	broad.mit.edu	37	5	147803622	147803622	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:147803622T>C	ENST00000340253.5	+	13	1848	c.1680T>C	c.(1678-1680)aaT>aaC	p.N560N	FBXO38_ENST00000394370.3_Silent_p.N560N|FBXO38_ENST00000296701.6_Silent_p.N560N|FBXO38_ENST00000513826.1_Silent_p.N560N			Q6PIJ6	FBX38_HUMAN	F-box protein 38	560					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTGGAAATAATACTCCAG	0.413																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1678-1680)aaT>aaC		F-box protein 38							192.0	163.0	173.0					5																	147803622		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147803622T>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1680T>C	5.37:g.147803622T>C						FBXO38_ENST00000394370.3_Silent_p.N560N|FBXO38_ENST00000513826.1_Silent_p.N560N|FBXO38_ENST00000296701.6_Silent_p.N560N	p.N560N			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1848	+			560					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.1680T>C																																																																																					0.413	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		6	59	0	0	0	0.001168	0	6	59				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		4	112	0	0	0	0.009096	0	4	112				
CIC	23152	broad.mit.edu	37	19	42791394	42791394	+	Splice_Site	SNP	T	T	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:42791394T>G	ENST00000575354.2	+	3	492		c.e3+2		CIC_ENST00000572681.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGATGATGCGTGAGTTCCCTG	0.652			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.e4+2		capicua transcriptional repressor							46.0	42.0	43.0					19																	42791394		2203	4300	6503	SO:0001630	splice_region_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791394T>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.452+2T>G	19.37:g.42791394T>G						CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000575354.2_Splice_Site				Q96RK0	CIC_HUMAN			4	3247	+		Prostate(69;0.00682)						Q7LGI1|Q9UEG5|Q9Y6T1	Splice_Site	SNP	ENST00000575354.2	37		CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.732526	0.69189	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1907	0.48683	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIC	47483234	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.884000	0.63135	1.750000	0.51863	0.397000	0.26171	.		0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		Intron	3	14	0	0	0	0.009096	0	3	14				
MAGI2	9863	broad.mit.edu	37	7	77762326	77762326	+	Missense_Mutation	SNP	G	G	A	rs148526889		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:77762326G>A	ENST00000354212.4	-	18	3336	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	MAGI2_ENST00000419488.1_Missense_Mutation_p.A1014V|MAGI2_ENST00000522391.1_Missense_Mutation_p.A1028V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1028	Pro-rich.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTCTGCTGCGCCATGGGACT	0.622																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3082-3084)gCg>gTg		membrane associated guanylate kinase, WW and PDZ domain containing 2		G	VAL/ALA	0,4406		0,0,2203	112.0	126.0	121.0		3083	5.8	1.0	7	dbSNP_134	121	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MAGI2	NM_012301.3	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1028/1456	77762326	3,13003	2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77762326G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3083C>T	7.37:g.77762326G>A	ENSP00000346151:p.Ala1028Val					MAGI2_ENST00000522391.1_Missense_Mutation_p.A1028V|MAGI2_ENST00000419488.1_Missense_Mutation_p.A1014V	p.A1028V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			18	3336	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1028			Pro-rich.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3083C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425476	0.43020	0.0	3.49E-4	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.12672	2.77;2.78;2.66	5.76	5.76	0.90799	.	0.000000	0.36234	U	0.002710	T	0.15003	0.0362	L	0.32530	0.975	0.80722	D	1	P;P;D	0.62365	0.952;0.884;0.991	B;B;B	0.43508	0.278;0.422;0.403	T	0.01245	-1.1407	10	0.35671	T	0.21	.	19.5547	0.95338	0.0:0.0:1.0:0.0	.	1028;1014;1028	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	V	1014;1028;1028;1028	ENSP00000405766:A1014V;ENSP00000346151:A1028V;ENSP00000428389:A1028V	ENSP00000346151:A1028V	A	-	2	0	MAGI2	77600262	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.224000	0.78042	2.726000	0.93360	0.655000	0.94253	GCG		0.622	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		5	236	0	0	0	0.000602	0	5	236				
GPR85	54329	broad.mit.edu	37	7	112723671	112723671	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:112723671A>G	ENST00000297146.3	-	3	1709	c.1106T>C	c.(1105-1107)gTt>gCt	p.V369A	GPR85_ENST00000424100.1_Missense_Mutation_p.V369A|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.V369A|GPR85_ENST00000501255.2_Missense_Mutation_p.V369A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	369					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTCATATAACACAGTAAGG	0.423																																						ENST00000501255.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1105-1107)gTt>gCt		G protein-coupled receptor 85							87.0	88.0	87.0					7																	112723671		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112723671A>G	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.1106T>C	7.37:g.112723671A>G	ENSP00000297146:p.Val369Ala					GPR85_ENST00000424100.1_Missense_Mutation_p.V369A|GPR85_ENST00000297146.2_Missense_Mutation_p.V369A|GPR85_ENST00000449591.1_Missense_Mutation_p.V369A	p.V369A	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN			3	1729	-			369					Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.1106T>C	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271902	0.59649	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	P	0.51266	0.664	T	0.41305	-0.9516	10	0.31617	T	0.26	.	14.9933	0.71406	1.0:0.0:0.0:0.0	.	369	P60893	GPR85_HUMAN	A	369	ENSP00000445808:V369A;ENSP00000297146:V369A;ENSP00000396763:V369A;ENSP00000401178:V369A	ENSP00000297146:V369A	V	-	2	0	GPR85	112510907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.195000	0.70347	0.477000	0.44152	GTT		0.423	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			25	167	0	0	0	0.003330	0	25	167				
WDR49	151790	broad.mit.edu	37	3	167246909	167246909	+	Silent	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:167246909A>G	ENST00000308378.3	-	10	1586	c.1281T>C	c.(1279-1281)tcT>tcC	p.S427S	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.S252S|WDR49_ENST00000453925.2_Silent_p.S491S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	427										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTTATCAGTAGACATAATAA	0.353																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1279-1281)tcT>tcC		WD repeat domain 49							98.0	95.0	96.0					3																	167246909		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167246909A>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1281T>C	3.37:g.167246909A>G						WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.S491S|WDR49_ENST00000476376.1_Silent_p.S252S	p.S427S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			10	1586	-			427					Q8N297	Silent	SNP	ENST00000308378.3	37	c.1281T>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	6.327	0.428410	0.11987	.	.	ENSG00000174776	ENST00000472600;ENST00000493061	.	.	.	5.52	4.39	0.52855	.	.	.	.	.	T	0.49115	0.1538	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47420	-0.9119	4	.	.	.	.	4.91	0.13816	0.6896:0.1905:0.1199:0.0	.	.	.	.	P	503;65	.	.	L	-	2	0	WDR49	168729603	1.000000	0.71417	0.969000	0.41365	0.649000	0.38597	1.016000	0.29976	2.101000	0.63845	0.460000	0.39030	CTA		0.353	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		11	44	0	0	0	0.008291	0	11	44				
CECR2	27443	broad.mit.edu	37	22	18020229	18020229	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr22:18020229C>T	ENST00000400585.2	+	14	1573	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	CECR2_ENST00000400573.5_Missense_Mutation_p.R520W|CECR2_ENST00000262608.8_Missense_Mutation_p.R521W			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	562					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGAGAAAAGACGGAGTCGGGC	0.527																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1561-1563)Cgg>Tgg		cat eye syndrome chromosome region, candidate 2							36.0	43.0	41.0					22																	18020229		1932	4133	6065	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18020229C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1135C>T	22.37:g.18020229C>T	ENSP00000383428:p.Arg379Trp					CECR2_ENST00000400573.4_Missense_Mutation_p.R520W|CECR2_ENST00000400585.2_Missense_Mutation_p.R379W	p.R521W	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	13	1561	+		all_epithelial(15;0.139)	562			Bromo.		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1561C>T		.	.	.	.	.	.	.	.	.	.	C	19.77	3.888531	0.72524	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28255	1.74;1.74;1.62	5.95	2.31	0.28768	.	0.261594	0.25575	N	0.029725	T	0.34193	0.0889	L	0.32530	0.975	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.56434	0.798;0.798;0.798	T	0.09250	-1.0683	10	0.72032	D	0.01	-25.4131	10.0789	0.42377	0.4179:0.4874:0.0947:0.0	.	562;379;520	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	W	379;520;521	ENSP00000383428:R379W;ENSP00000383417:R520W;ENSP00000262608:R521W	ENSP00000262608:R521W	R	+	1	2	CECR2	16400229	0.999000	0.42202	0.674000	0.29902	0.924000	0.55760	2.139000	0.42149	0.798000	0.33994	0.491000	0.48974	CGG		0.527	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		6	36	0	0	0	0.001168	0	6	36				
FOSL2	2355	broad.mit.edu	37	2	28627127	28627127	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:28627127C>T	ENST00000264716.4	+	2	1119	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	FOSL2_ENST00000545753.1_Missense_Mutation_p.P47S|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.P61S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	86					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCCCCCTGCCGGGCCTGGC	0.647																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(256-258)Ccg>Tcg		FOS-like antigen 2							108.0	104.0	106.0					2																	28627127		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28627127C>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.256C>T	2.37:g.28627127C>T	ENSP00000264716:p.Pro86Ser					FOSL2_ENST00000545753.1_Missense_Mutation_p.P47S|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.P61S	p.P86S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			2	1119	+	Acute lymphoblastic leukemia(172;0.155)		86					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.256C>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640881	0.47153	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.79749	-1.29;-0.34;-1.27;-1.3	5.32	5.32	0.75619	.	0.217950	0.48286	D	0.000189	T	0.76234	0.3959	L	0.42529	1.33	0.49051	D	0.999743	B	0.26363	0.147	B	0.18263	0.021	T	0.73770	-0.3878	10	0.54805	T	0.06	-19.77	18.9807	0.92754	0.0:1.0:0.0:0.0	.	86	P15408	FOSL2_HUMAN	S	61;86;47;47	ENSP00000368939:P61S;ENSP00000264716:P86S;ENSP00000396497:P47S;ENSP00000439303:P47S	ENSP00000264716:P86S	P	+	1	0	FOSL2	28480631	0.973000	0.33851	1.000000	0.80357	0.994000	0.84299	1.575000	0.36493	2.485000	0.83878	0.563000	0.77884	CCG		0.647	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		4	138	0	0	0	0.000602	0	4	138				
OR5H14	403273	broad.mit.edu	37	3	97868884	97868884	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:97868884A>G	ENST00000437310.1	+	1	715	c.655A>G	c.(655-657)Ata>Gta	p.I219V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATATCTTACATATTTGTCCT	0.318																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(655-657)Ata>Gta		olfactory receptor, family 5, subfamily H, member 14							55.0	55.0	55.0					3																	97868884		2202	4297	6499	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868884A>G		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.655A>G	3.37:g.97868884A>G	ENSP00000401706:p.Ile219Val						p.I219V	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	715	+			219					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.655A>G	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	0.698	-0.791725	0.02884	.	.	ENSG00000236032	ENST00000437310	T	0.00023	8.99	2.49	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.463936	0.18120	N	0.151061	T	0.00073	0.0002	N	0.04260	-0.245	0.09310	N	1	B	0.13594	0.008	B	0.23275	0.045	T	0.01222	-1.1414	10	0.19147	T	0.46	.	5.8092	0.18457	0.7623:0.0:0.0:0.2376	.	219	A6NHG9	O5H14_HUMAN	V	219	ENSP00000401706:I219V	ENSP00000401706:I219V	I	+	1	0	OR5H14	99351574	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-0.025000	0.12413	0.161000	0.19458	0.164000	0.16699	ATA		0.318	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			23	34	0	0	0	0.002780	0	23	34				
IGHV4-28	28400	broad.mit.edu	37	14	106780540	106780540	+	RNA	SNP	C	C	T	rs200147760		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr14:106780540C>T	ENST00000390612.2	-	0	395									immunoglobulin heavy variable 4-28																		CGGCCGTGTCCACGGCGGTCA	0.597																																						ENST00000390612.2																			0																				191.0	182.0	185.0					14																	106780540		1980	4145	6125			0							g.chr14:106780540C>T	X05714		14q32.33	2012-02-08			ENSG00000211952	ENSG00000211952		"""Immunoglobulins / IGH locus"""	5645	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152062		14.37:g.106780540C>T														0	395	-									RNA	SNP	ENST00000390612.2	37																																																																																						0.597	IGHV4-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325156.1	NG_001019		5	368	0	0	0	0.006214	0	5	368				
TTN	7273	broad.mit.edu	37	2	179589234	179589234	+	Silent	SNP	C	C	T	rs367929968		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:179589234C>T	ENST00000591111.1	-	70	20141	c.19917G>A	c.(19915-19917)ccG>ccA	p.P6639P	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.P6956P|TTN_ENST00000342992.6_Silent_p.P5712P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12241	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCGTCATCGGTCCTGCCT	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20866-20868)ccG>ccA		titin		C	,,,	0,3962		0,0,1981	65.0	62.0	63.0		,17136,,	-6.7	0.4	2		63	2,8306		0,2,4152	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6133	TT,TC,CC		0.0241,0.0,0.0163	,,,	,5712/33424,,	179589234	2,12268	1981	4154	6135	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179589234C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19917G>A	2.37:g.179589234C>T						TTN_ENST00000591111.1_Silent_p.P6639P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.P5712P|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	p.P6956P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		72	21092	-			6639			Ig-like 51.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.20868G>A																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	36	0	0	0	0.004990	0	16	36				
PGLYRP1	8993	broad.mit.edu	37	19	46526067	46526067	+	Silent	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:46526067G>A	ENST00000008938.4	-	1	256	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	71					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCACGAGGCGGGGGTGT	0.652																																						ENST00000008938.4																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10						c.(211-213)gcC>gcT		peptidoglycan recognition protein 1							38.0	35.0	36.0					19																	46526067		2203	4299	6502	SO:0001819	synonymous_variant	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46526067G>A	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.213C>T	19.37:g.46526067G>A							p.A71A	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	1	256	-		all_neural(266;0.113)|Ovarian(192;0.127)	71					Q4VB36	Silent	SNP	ENST00000008938.4	37	c.213C>T	CCDS12680.1																																																																																				0.652	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		9	22	0	0	0	0.004482	0	9	22				
ATP9A	10079	broad.mit.edu	37	20	50256040	50256040	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr20:50256040C>T	ENST00000338821.5	-	15	1774	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T	ATP9A_ENST00000402822.1_Missense_Mutation_p.A383T|ATP9A_ENST00000311637.5_Missense_Mutation_p.A368T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	504					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGTACCAGGGCCACCTAAACA	0.567											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1510-1512)Gcc>Acc		ATPase, class II, type 9A							83.0	66.0	72.0					20																	50256040		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50256040C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1510G>A	20.37:g.50256040C>T	ENSP00000342481:p.Ala504Thr		OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_ENST00000402822.1_Missense_Mutation_p.A383T|ATP9A_ENST00000311637.5_Missense_Mutation_p.A368T	p.A504T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			15	1774	-			504					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1510G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722628	0.89298	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.86956	-2.19;-2.19;-2.19	5.26	5.26	0.73747	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052084	0.85682	D	0.000000	D	0.95326	0.8483	H	0.94847	3.59	0.80722	D	1	B;D	0.59767	0.221;0.986	B;D	0.65573	0.131;0.936	D	0.96515	0.9381	10	0.87932	D	0	-35.5257	18.8519	0.92235	0.0:1.0:0.0:0.0	.	383;504	O75110-2;O75110	.;ATP9A_HUMAN	T	368;504;383	ENSP00000309086:A368T;ENSP00000342481:A504T;ENSP00000385875:A383T	ENSP00000309086:A368T	A	-	1	0	ATP9A	49689447	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.914000	0.63348	2.452000	0.82932	0.609000	0.83330	GCC		0.567	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		11	44	0	0	0	0.008291	0	11	44				
SPATA31E1	286234	broad.mit.edu	37	9	90501369	90501369	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr9:90501369C>T	ENST00000325643.5	+	4	2033	c.1967C>T	c.(1966-1968)cCt>cTt	p.P656L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	656					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGCTACAGCCTGATGGGGAA	0.622																																						ENST00000325643.5																			0											c.(1966-1968)cCt>cTt		SPATA31 subfamily E, member 1							32.0	39.0	37.0					9																	90501369		2203	4299	6502	SO:0001583	missense	286234							g.chr9:90501369C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1967C>T	9.37:g.90501369C>T	ENSP00000322640:p.Pro656Leu						p.P656L	NM_178828.4	NP_849150.3					4	2033	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1967C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.600783	0.00849	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.09630	2.96	2.43	0.472	0.16758	.	0.911097	0.09061	N	0.854390	T	0.06234	0.0161	N	0.16368	0.405	0.09310	N	1	P;P	0.45715	0.865;0.461	P;B	0.45639	0.488;0.224	T	0.08330	-1.0727	10	0.02654	T	1	.	4.6911	0.12781	0.0:0.6679:0.0:0.3321	.	656;308	Q6ZUB1;Q8NA33	CI079_HUMAN;.	L	656;308	ENSP00000322640:P656L	ENSP00000322640:P656L	P	+	2	0	C9orf79	89691189	0.014000	0.17966	0.000000	0.03702	0.003000	0.03518	0.400000	0.20932	0.120000	0.18254	0.557000	0.71058	CCT		0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		11	68	0	0	0	0.010729	0	11	68				
IGSF9	57549	broad.mit.edu	37	1	159900616	159900616	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:159900616A>G	ENST00000368094.1	-	14	1876	c.1679T>C	c.(1678-1680)tTg>tCg	p.L560S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.L544S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	560	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCACTGCCAAGGACACCCA	0.617																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1678-1680)tTg>tCg		immunoglobulin superfamily, member 9							50.0	48.0	49.0					1																	159900616		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159900616A>G	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1679T>C	1.37:g.159900616A>G	ENSP00000357073:p.Leu560Ser					IGSF9_ENST00000361509.3_Missense_Mutation_p.L544S|IGSF9_ENST00000493195.1_5'UTR	p.L560S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1876	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	560			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000368094.1	37	c.1679T>C	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716636	0.68844	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.57752	0.38;0.38	4.65	4.65	0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.33916	N	0.004435	T	0.51193	0.1660	L	0.41710	1.295	0.40749	D	0.9829	D	0.89917	1.0	D	0.73380	0.98	T	0.51826	-0.8656	9	.	.	.	-6.8539	12.0682	0.53601	1.0:0.0:0.0:0.0	.	560	Q9P2J2	TUTLA_HUMAN	S	544;560	ENSP00000355049:L544S;ENSP00000357073:L560S	.	L	-	2	0	IGSF9	158167240	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	5.647000	0.67923	1.944000	0.56390	0.379000	0.24179	TTG		0.617	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		10	38	0	0	0	0.006214	0	10	38				
PCDHGA2	56113	broad.mit.edu	37	5	140720793	140720793	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:140720793C>G	ENST00000394576.2	+	1	2255	c.2255C>G	c.(2254-2256)aCc>aGc	p.T752S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	752					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGCAGACCTATTCCCAC	0.612																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2254-2256)aCc>aGc									73.0	77.0	76.0					5																	140720793		2203	4298	6501	SO:0001583	missense	0							g.chr5:140720793C>G	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2255C>G	5.37:g.140720793C>G	ENSP00000378077:p.Thr752Ser					PCDHGA1_ENST00000517417.1_Intron	p.T752S	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2255	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2255C>G	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	5.593	0.294202	0.10567	.	.	ENSG00000081853	ENST00000394576	T	0.48836	0.8	5.39	4.51	0.55191	.	0.000000	0.42548	U	0.000692	T	0.45256	0.1333	L	0.39898	1.24	0.19300	N	0.999977	B;B	0.26744	0.158;0.13	B;B	0.36808	0.233;0.05	T	0.37033	-0.9723	10	0.26408	T	0.33	.	15.6676	0.77242	0.0:0.8621:0.1379:0.0	.	752;752	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	S	752	ENSP00000378077:T752S	ENSP00000378077:T752S	T	+	2	0	PCDHGA2	140700977	0.000000	0.05858	1.000000	0.80357	0.088000	0.18126	0.216000	0.17585	1.256000	0.44068	-0.479000	0.04858	ACC		0.612	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		20	131	0	0	0	0.009535	0	20	131				
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G	rs201001946		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652																																						ENST00000557932.1																			3	Substitution - Missense(3)	p.L386V(3)	prostate(2)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515335C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515335C>G														0	1181	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	c	1.538	-0.542507	0.04053	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.125321	0.53938	D	0.000056	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-11.5249	7.9382	0.29941	0.0:1.0:0.0:0.0	.	.	.	.	V	395;386	.	.	L	+	1	2	WASH3P	100332858	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	1.146000	0.31589	0.863000	0.35553	0.184000	0.17185	CTG		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	46	0	0	0	0.009096	0	3	46				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	45	0	0	0	0.012213	0	32	45				
C17orf53	78995	broad.mit.edu	37	17	42231994	42231994	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr17:42231994G>A	ENST00000319977.4	+	6	1760	c.1523G>A	c.(1522-1524)aGc>aAc	p.S508N	C17orf53_ENST00000245382.6_Missense_Mutation_p.S432N|C17orf53_ENST00000585683.1_Missense_Mutation_p.S507N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	508										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTGACTCGGAGCACAATGGAC	0.552																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1522-1524)aGc>aAc		chromosome 17 open reading frame 53							134.0	114.0	120.0					17																	42231994		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42231994G>A	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1523G>A	17.37:g.42231994G>A	ENSP00000313500:p.Ser508Asn					C17orf53_ENST00000245382.6_Missense_Mutation_p.S432N|C17orf53_ENST00000585683.1_Missense_Mutation_p.S507N	p.S508N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	6	1760	+		Breast(137;0.0364)|Prostate(33;0.0376)	508					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.1523G>A	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666095	0.67700	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.49432	0.78;0.95	6.04	6.04	0.98038	.	0.203085	0.50627	D	0.000104	T	0.45357	0.1338	L	0.53249	1.67	0.35533	D	0.802411	B;B;B	0.25955	0.138;0.137;0.138	B;B;B	0.28139	0.044;0.086;0.044	T	0.50898	-0.8773	10	0.33141	T	0.24	-13.6397	13.9964	0.64405	0.0:0.2531:0.7469:0.0	.	507;432;508	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	N	508;432	ENSP00000313500:S508N;ENSP00000245382:S432N	ENSP00000245382:S432N	S	+	2	0	C17orf53	39587520	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.347000	0.52200	2.873000	0.98535	0.561000	0.74099	AGC		0.552	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		12	102	0	0	0	0.001855	0	12	102				
MATK	4145	broad.mit.edu	37	19	3783831	3783831	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:3783831T>C	ENST00000310132.6	-	6	961	c.563A>G	c.(562-564)aAc>aGc	p.N188S	MATK_ENST00000395045.2_Missense_Mutation_p.N189S|MATK_ENST00000585778.1_Missense_Mutation_p.N188S|MATK_ENST00000395040.2_Missense_Mutation_p.N147S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	188	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCATGAGGTTGCAGAAGAA	0.637																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(562-564)aAc>aGc		megakaryocyte-associated tyrosine kinase							58.0	49.0	52.0					19																	3783831		2203	4299	6502	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783831T>C	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.563A>G	19.37:g.3783831T>C	ENSP00000308734:p.Asn188Ser					MATK_ENST00000585778.1_Missense_Mutation_p.N188S|MATK_ENST00000395045.2_Missense_Mutation_p.N189S|MATK_ENST00000395040.2_Missense_Mutation_p.N147S	p.N188S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	961	-		Hepatocellular(1079;0.137)	188			SH2.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.563A>G	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	t	19.48	3.836255	0.71373	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.18960	2.18;2.18;2.18	4.8	4.8	0.61643	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	N	0.04994	-0.135	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.16541	-1.0399	10	0.13470	T	0.59	-39.9167	13.5442	0.61693	0.0:0.0:0.0:1.0	.	188;189;188	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	S	189;188;147	ENSP00000378485:N189S;ENSP00000308734:N188S;ENSP00000378481:N147S	ENSP00000308734:N188S	N	-	2	0	MATK	3734831	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.503000	0.81632	1.797000	0.52628	0.454000	0.30748	AAC		0.637	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		6	47	0	0	0	0.001984	0	6	47				
PTPN4	5775	broad.mit.edu	37	2	120718482	120718482	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:120718482G>A	ENST00000263708.2	+	23	3004	c.2233G>A	c.(2233-2235)Ggc>Agc	p.G745S	PTPN4_ENST00000544261.1_Missense_Mutation_p.G378S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	745	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.G745S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGGGAACAAGGCTCCTCTAT	0.393																																						ENST00000263708.2																			1	Substitution - Missense(1)	p.G745S(1)	kidney(1)	endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(2233-2235)Ggc>Agc		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						167.0	149.0	155.0					2																	120718482		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120718482G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2233G>A	2.37:g.120718482G>A	ENSP00000263708:p.Gly745Ser					PTPN4_ENST00000544261.1_Missense_Mutation_p.G378S	p.G745S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			23	3004	+			745			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2233G>A	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.678767|2.678767	0.47886|0.47886	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	T;T|.	0.15139|.	2.45;2.45|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.045294|.	0.85682|.	D|.	0.000000|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	P|.	0.56216|.	0.794|.	T|T	0.52041|0.52041	-0.8628|-0.8628	10|5	0.23891|.	T|.	0.37|.	.|.	20.0118|20.0118	0.97458|0.97458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	745|.	P29074|.	PTN4_HUMAN|.	S|K	745;378|28	ENSP00000263708:G745S;ENSP00000445841:G378S|.	ENSP00000263708:G745S|.	G|R	+|+	1|2	0|0	PTPN4|PTPN4	120434952|120434952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.659000|6.659000	0.74412|0.74412	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	GGC|AGG		0.393	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			55	83	0	0	0	0.014410	0	55	83				
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G	rs567541195	byFrequency	TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGGGAATAATACGGCCATCCA	0.522													.|||	3	0.000599042	0.0	0.0043	5008	,	,		20782	0.0		0.0	False		,,,				2504	0.0					ENST00000567960.1																			0																																																			0							g.chr16:90162379A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162379A>G						TUBB8P7_ENST00000564451.1_RNA								0	1115	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	187	0	0	0	0.000602	0	5	187				
CXCR2	3579	broad.mit.edu	37	2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	rs75759064		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:218999633G>A	ENST00000318507.2	+	3	536	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19612	0.0		0.0	False		,,,				2504	0.0					ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(109-111)Gcc>Acc		chemokine (C-X-C motif) receptor 2		G	THR/ALA,THR/ALA	0,4406		0,0,2203	138.0	134.0	135.0		109,109	-0.2	0.0	2	dbSNP_131	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CXCR2	NM_001168298.1,NM_001557.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	37/361,37/361	218999633	1,13005	2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999633G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.109G>A	2.37:g.218999633G>A	ENSP00000319635:p.Ala37Thr						p.A37T	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	536	+			37					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.109G>A	CCDS2408.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.924	0.961740	0.18583	0.0	1.16E-4	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.29	-0.235	0.13071	.	1.705500	0.03116	N	0.163122	T	0.20780	0.0500	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.16041	-1.0416	10	0.32370	T	0.25	.	6.1886	0.20512	0.152:0.0:0.2775:0.5705	.	37	P25025	CXCR2_HUMAN	T	37	ENSP00000413686:A37T;ENSP00000392348:A37T;ENSP00000319635:A37T;ENSP00000415148:A37T;ENSP00000392698:A37T	ENSP00000319635:A37T	A	+	1	0	CXCR2	218707878	0.000000	0.05858	0.027000	0.17364	0.060000	0.15804	0.060000	0.14342	-0.270000	0.09285	-0.225000	0.12378	GCC		0.448	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		7	212	0	0	0	0.001984	0	7	212				
IGF2R	3482	broad.mit.edu	37	6	160497010	160497010	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr6:160497010T>C	ENST00000356956.1	+	36	5446	c.5298T>C	c.(5296-5298)tgT>tgC	p.C1766C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1766					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CGTTTCACTGTAAGAGAGGTG	0.468																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5296-5298)tgT>tgC		insulin-like growth factor 2 receptor							176.0	160.0	166.0					6																	160497010		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160497010T>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5298T>C	6.37:g.160497010T>C							p.C1766C	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	36	5446	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1766					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.5298T>C	CCDS5273.1																																																																																				0.468	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		21	159	0	0	0	0.010504	0	21	159				
CUL4B	8450	broad.mit.edu	37	X	119691896	119691896	+	Splice_Site	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chrX:119691896T>C	ENST00000404115.3	-	4	1012		c.e4-2		CUL4B_ENST00000371322.5_Splice_Site|CUL4B_ENST00000336592.6_Splice_Site	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGGCTTATCTAGATGATATG	0.313																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e2-2		cullin 4B							136.0	114.0	121.0					X																	119691896		2203	4300	6503	SO:0001630	splice_region_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119691896T>C	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.611-2A>G	X.37:g.119691896T>C						CUL4B_ENST00000404115.3_Splice_Site|CUL4B_ENST00000336592.6_Splice_Site		NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			2	618	-								B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Splice_Site	SNP	ENST00000404115.3	37		CCDS35379.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894690	0.72639	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3201	0.60428	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL4B	119575924	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.015000	0.88690	1.808000	0.52836	0.486000	0.48141	.		0.313	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588	Intron	11	14	0	0	0	0.013537	0	11	14				
COBL	23242	broad.mit.edu	37	7	51096959	51096959	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:51096959G>A	ENST00000265136.7	-	10	1999	c.1834C>T	c.(1834-1836)Cgt>Tgt	p.R612C	COBL_ENST00000395542.2_Missense_Mutation_p.R694C	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	612					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.R612C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAGGCCACACGGATTCCTTTT	0.527																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			1	Substitution - Missense(1)	p.R612C(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2080-2082)Cgt>Tgt		cordon-bleu WH2 repeat protein							86.0	81.0	83.0					7																	51096959		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096959G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1834C>T	7.37:g.51096959G>A	ENSP00000265136:p.Arg612Cys					COBL_ENST00000265136.7_Missense_Mutation_p.R612C	p.R694C			O75128	COBL_HUMAN			12	2264	-	Glioma(55;0.08)		612					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2080C>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.52|16.52	3.145719|3.145719	0.57044|0.57044	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	5.7|5.7	0.657|0.657	0.17850|0.17850	.|.	.|1.867390	.|0.02939	.|N	.|0.140267	T|T	0.29783|0.29783	0.0744|0.0744	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|D;D;D;P;D	.|0.69078	.|0.997;0.997;0.997;0.924;0.994	.|P;P;B;B;P	.|0.50049	.|0.627;0.627;0.424;0.409;0.629	T|T	0.32107|0.32107	-0.9919|-0.9919	5|10	.|0.54805	.|T	.|0.06	.|.	8.8814|8.8814	0.35376|0.35376	0.0:0.0922:0.3544:0.5533|0.0:0.0922:0.3544:0.5533	.|.	.|612;669;612;694;154	.|O75128-3;O75128-7;O75128;O75128-2;O75128-6	.|.;.;COBL_HUMAN;.;.	L|C	587|612;504;497;694;110	.|ENSP00000265136:R612C;ENSP00000401204:R504C;ENSP00000413498:R497C;ENSP00000378912:R694C	.|ENSP00000265136:R612C	P|R	-|-	2|1	0|0	COBL|COBL	51064453|51064453	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.413000|0.413000	0.21148|0.21148	0.181000|0.181000	0.19994|0.19994	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.527	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		20	100	0	0	0	0.010504	0	20	100				
SPATA9	83890	broad.mit.edu	37	5	94994605	94994605	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:94994605T>C	ENST00000274432.8	-	5	628	c.487A>G	c.(487-489)Aat>Gat	p.N163D	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	163					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AGCACAGCATTAACACAGACT	0.348																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(487-489)Aat>Gat		spermatogenesis associated 9							106.0	103.0	104.0					5																	94994605		2203	4300	6503	SO:0001583	missense	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:94994605T>C	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.487A>G	5.37:g.94994605T>C	ENSP00000274432:p.Asn163Asp					RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	p.N163D	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	5	628	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	163					A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	c.487A>G	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044119	0.55110	.	.	ENSG00000145757	ENST00000274432	T	0.30714	1.52	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000008	T	0.41351	0.1155	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.35919	-0.9769	10	0.87932	D	0	-23.107	11.6607	0.51345	0.0:0.0:0.0:1.0	.	163	Q9BWV2	SPAT9_HUMAN	D	163	ENSP00000274432:N163D	ENSP00000274432:N163D	N	-	1	0	SPATA9	95020361	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	3.748000	0.55142	2.258000	0.74832	0.519000	0.50382	AAT		0.348	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		21	85	0	0	0	0.014323	0	21	85				
DBT	1629	broad.mit.edu	37	1	100696303	100696303	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:100696303G>A	ENST00000370132.4	-	4	432	c.419C>T	c.(418-420)aCg>aTg	p.T140M	DBT_ENST00000370131.3_Missense_Mutation_p.T140M	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	140					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TAAAGCTTCCGTTTCTATGTC	0.328																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(418-420)aCg>aTg		dihydrolipoamide branched chain transacylase E2							60.0	62.0	62.0					1																	100696303		2202	4298	6500	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100696303G>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.419C>T	1.37:g.100696303G>A	ENSP00000359151:p.Thr140Met					DBT_ENST00000370131.3_Missense_Mutation_p.T140M	p.T140M	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	4	432	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	140					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.419C>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717920	0.68844	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.23147	1.92;1.92	5.1	5.1	0.69264	Single hybrid motif (1);	0.044892	0.85682	D	0.000000	T	0.05960	0.0155	N	0.08118	0	0.80722	D	1	P	0.36944	0.574	B	0.27608	0.081	T	0.13522	-1.0506	10	0.62326	D	0.03	-14.6598	12.7376	0.57234	0.0867:0.0:0.9133:0.0	.	140	P11182	ODB2_HUMAN	M	140	ENSP00000359151:T140M;ENSP00000359150:T140M	ENSP00000359150:T140M	T	-	2	0	DBT	100468891	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.327000	0.72910	2.508000	0.84585	0.563000	0.77884	ACG		0.328	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		14	21	0	0	0	0.002450	0	14	21				
ZBED4	9889	broad.mit.edu	37	22	50280050	50280050	+	Missense_Mutation	SNP	G	G	A	rs55681922		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr22:50280050G>A	ENST00000216268.5	+	2	3217	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	914						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGATGTCCGTCGAGTGTAA	0.582																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2740-2742)Gtc>Atc		zinc finger, BED-type containing 4							102.0	81.0	88.0					22																	50280050		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280050G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2740G>A	22.37:g.50280050G>A	ENSP00000216268:p.Val914Ile						p.V914I	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3217	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	914					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.2740G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424862	0.01126	.	.	ENSG00000100426	ENST00000216268	T	0.21734	1.99	5.95	-10.3	0.00346	Ribonuclease H-like (1);	0.378221	0.27851	N	0.017593	T	0.05044	0.0135	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25152	-1.0140	10	0.05620	T	0.96	-11.3739	20.4959	0.99207	0.8054:0.0:0.1946:0.0	rs55681922	914	O75132	ZBED4_HUMAN	I	914	ENSP00000216268:V914I	ENSP00000216268:V914I	V	+	1	0	ZBED4	48666054	0.006000	0.16342	0.000000	0.03702	0.008000	0.06430	0.559000	0.23485	-1.862000	0.01151	-0.140000	0.14226	GTC		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		13	62	0	0	0	0.002450	0	13	62				
NPY1R	4886	broad.mit.edu	37	4	164246627	164246627	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr4:164246627T>C	ENST00000296533.2	-	3	1514	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	NPY1R_ENST00000509586.1_Missense_Mutation_p.Q85R	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	328					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAGTCTCTCTGGAAGTTTTT	0.428																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(982-984)cAg>cGg		neuropeptide Y receptor Y1							110.0	121.0	118.0					4																	164246627		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246627T>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.983A>G	4.37:g.164246627T>C	ENSP00000354652:p.Gln328Arg					NPY1R_ENST00000509586.1_Missense_Mutation_p.Q85R	p.Q328R	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1514	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	328					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.983A>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422535	0.43020	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.27720	1.65;1.65	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.44829	0.1312	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.68765	0.96	T	0.29212	-1.0019	10	0.07482	T	0.82	.	15.5707	0.76333	0.0:0.0:0.0:1.0	.	328	P25929	NPY1R_HUMAN	R	328;85	ENSP00000354652:Q328R;ENSP00000427284:Q85R	ENSP00000354652:Q328R	Q	-	2	0	NPY1R	164466077	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.086000	0.64474	2.074000	0.62210	0.533000	0.62120	CAG		0.428	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			25	95	0	0	0	0.003330	0	25	95				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	86	0	0	0	0.003080	0	6	86				
MYO3B	140469	broad.mit.edu	37	2	171264279	171264279	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:171264279G>A	ENST00000408978.4	+	22	2718	c.2575G>A	c.(2575-2577)Gat>Aat	p.D859N	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.D859N|MYO3B_ENST00000334231.6_Missense_Mutation_p.D868N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	859	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTCCCTGCCGATGTGGTTGT	0.463																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(2602-2604)Gat>Aat		myosin IIIB							195.0	191.0	192.0					2																	171264279		1911	4132	6043	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171264279G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2575G>A	2.37:g.171264279G>A	ENSP00000386213:p.Asp859Asn					MYO3B_ENST00000409044.3_Missense_Mutation_p.D859N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D859N|MYO3B_ENST00000602629.1_3'UTR	p.D868N			Q8WXR4	MYO3B_HUMAN			22	2602	+			859			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2602G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826408	0.71143	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.988;0.951;0.993	D	0.84239	0.0471	10	0.72032	D	0.01	.	19.3758	0.94508	0.0:0.0:1.0:0.0	.	859;859;859	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	N	859;859;858;868;868	ENSP00000386497:D859N;ENSP00000386213:D859N;ENSP00000446237:D868N;ENSP00000335100:D868N	ENSP00000314213:D858N	D	+	1	0	MYO3B	170972525	1.000000	0.71417	0.995000	0.50966	0.085000	0.17905	9.679000	0.98649	2.577000	0.86979	0.655000	0.94253	GAT		0.463	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			6	184	0	0	0	0.001984	0	6	184				
LRRIQ1	84125	broad.mit.edu	37	12	85518209	85518209	+	Missense_Mutation	SNP	A	A	G	rs372812401		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr12:85518209A>G	ENST00000393217.2	+	17	3980	c.3919A>G	c.(3919-3921)Att>Gtt	p.I1307V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1307										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGCAAGCAGTATTCCCACCAT	0.373																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3919-3921)Att>Gtt		leucine-rich repeats and IQ motif containing 1		A	VAL/ILE	0,4406		0,0,2203	166.0	182.0	177.0		3919	-1.6	0.0	12		177	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRIQ1	NM_001079910.1	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1307/1723	85518209	1,13005	2203	4300	6503	SO:0001583	missense	84125							g.chr12:85518209A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3919A>G	12.37:g.85518209A>G	ENSP00000376910:p.Ile1307Val						p.I1307V	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	3980	+			1307					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3919A>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	3.917	-0.018993	0.07681	0.0	1.16E-4	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.48522	0.81	5.33	-1.64	0.08318	.	0.890365	0.09465	N	0.798431	T	0.16981	0.0408	N	0.03608	-0.345	0.09310	N	1	B;B	0.15141	0.004;0.012	B;B	0.11329	0.006;0.006	T	0.19614	-1.0300	10	0.17832	T	0.49	.	0.4905	0.00563	0.4218:0.1397:0.16:0.2785	.	1307;1282	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	1307;1282;1307	ENSP00000376910:I1307V	ENSP00000256007:I1307V	I	+	1	0	LRRIQ1	84042340	0.001000	0.12720	0.000000	0.03702	0.425000	0.31504	0.297000	0.19101	-0.202000	0.10268	-0.326000	0.08463	ATT		0.373	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		7	320	0	0	0	0.004482	0	7	320				
EHHADH	1962	broad.mit.edu	37	3	184910182	184910182	+	Silent	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:184910182G>A	ENST00000231887.3	-	7	2079	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Silent_p.S572S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	668					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			ACCCAACTGTGGAAGCATAGA	0.473																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(2002-2004)tcC>tcT		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						91.0	92.0	91.0					3																	184910182		2203	4300	6503	SO:0001819	synonymous_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910182G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.2004C>T	3.37:g.184910182G>A						EHHADH_ENST00000456310.1_Silent_p.S572S	p.S668S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	2079	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		668					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	c.2004C>T	CCDS33901.1																																																																																				0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			4	71	0	0	0	0.009096	0	4	71				
LATS2	26524	broad.mit.edu	37	13	21549263	21549263	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr13:21549263C>T	ENST00000382592.4	-	8	3418	c.3013G>A	c.(3013-3015)Gta>Ata	p.V1005I	LATS2_ENST00000542899.1_Missense_Mutation_p.V1005I	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCTTCATCTACGGGGTCGAAA	0.557																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(3013-3015)Gta>Ata		large tumor suppressor kinase 2							204.0	191.0	195.0					13																	21549263		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21549263C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3013G>A	13.37:g.21549263C>T	ENSP00000372035:p.Val1005Ile					LATS2_ENST00000542899.1_Missense_Mutation_p.V1005I	p.V1005I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	8	3418	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1005			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000382592.4	37	c.3013G>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672128	0.29693	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.57436	0.4;0.4	5.96	5.12	0.69794	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.185890	0.36591	N	0.002517	T	0.46619	0.1402	L	0.57536	1.79	0.54753	D	0.999981	B	0.27951	0.195	B	0.23150	0.044	T	0.38415	-0.9662	10	0.25751	T	0.34	.	12.0482	0.53491	0.0:0.8624:0.0:0.1376	.	1005	Q9NRM7	LATS2_HUMAN	I	1005	ENSP00000372035:V1005I;ENSP00000441817:V1005I	ENSP00000372035:V1005I	V	-	1	0	LATS2	20447263	0.998000	0.40836	0.031000	0.17742	0.044000	0.14063	3.778000	0.55371	1.523000	0.49018	0.655000	0.94253	GTA		0.557	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			32	154	0	0	0	0.013726	0	32	154				
ATG2A	23130	broad.mit.edu	37	11	64674138	64674138	+	Splice_Site	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:64674138T>C	ENST00000377264.3	-	20	3094	c.2982A>G	c.(2980-2982)cgA>cgG	p.R994R	ATG2A_ENST00000421419.2_Splice_Site_p.R994R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	994					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCCTCACACCTCGGTGGTAGA	0.617																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.e20+1		autophagy related 2A							82.0	81.0	82.0					11																	64674138		2201	4297	6498	SO:0001630	splice_region_variant	23130						protein binding	g.chr11:64674138T>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2983+1A>G	11.37:g.64674138T>C						ATG2A_ENST00000377264.3_Splice_Site_p.R994_splice	p.R994_splice			Q2TAZ0	ATG2A_HUMAN			20	3096	-			994					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Splice_Site	SNP	ENST00000377264.3	37	c.2983_splice	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397571	0.42512	.	.	ENSG00000110046	ENST00000418259	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	T	0.70168	0.3193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69487	-0.5132	4	.	.	.	.	13.6605	0.62363	0.0:0.0:0.0:1.0	.	.	.	.	G	796	.	.	S	-	1	0	ATG2A	64430714	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	2.784000	0.47774	2.172000	0.68678	0.533000	0.62120	AGC		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	Silent	13	112	0	0	0	0.001855	0	13	112				
URB2	9816	broad.mit.edu	37	1	229773892	229773892	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:229773892G>A	ENST00000258243.2	+	4	3668	c.3532G>A	c.(3532-3534)Gcc>Acc	p.A1178T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1178						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTTTCAGGCAGCCTTGCAGTT	0.498																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3532-3534)Gcc>Acc		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							153.0	155.0	154.0					1																	229773892		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773892G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3532G>A	1.37:g.229773892G>A	ENSP00000258243:p.Ala1178Thr						p.A1178T	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	3668	+			1178					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3532G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227910	0.79576	.	.	ENSG00000135763	ENST00000258243	T	0.33865	1.39	5.65	5.65	0.86999	.	0.054519	0.64402	D	0.000001	T	0.41903	0.1179	L	0.34521	1.04	0.40223	D	0.977754	D	0.69078	0.997	P	0.57152	0.814	T	0.09618	-1.0666	9	.	.	.	-23.4406	13.5447	0.61695	0.0:0.0:0.7285:0.2715	.	1178	Q14146	URB2_HUMAN	T	1178	ENSP00000258243:A1178T	.	A	+	1	0	URB2	227840515	0.431000	0.25546	0.704000	0.30370	0.844000	0.47949	1.556000	0.36288	2.843000	0.97960	0.585000	0.79938	GCC		0.498	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		27	89	0	0	0	0.005443	0	27	89				
ICE1	23379	broad.mit.edu	37	5	5466481	5466481	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:5466481C>G	ENST00000296564.7	+	14	6149	c.5927C>G	c.(5926-5928)tCa>tGa	p.S1976*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1976					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCTATTCTCTCAGAACTAAAA	0.388																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(5926-5928)tCa>tGa		KIAA0947							88.0	79.0	82.0					5																	5466481		1835	4083	5918	SO:0001587	stop_gained	23379							g.chr5:5466481C>G																												ENST00000296564.7:c.5927C>G	5.37:g.5466481C>G	ENSP00000296564:p.Ser1976*						p.S1976*	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			14	6149	+			1976					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.5927C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	48	14.132064	0.99781	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.81	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.0968	7.3719	0.26806	0.1671:0.7491:0.0:0.0838	.	.	.	.	X	1976	.	ENSP00000296564:S1976X	S	+	2	0	KIAA0947	5519481	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.598000	0.36740	1.464000	0.47987	0.557000	0.71058	TCA		0.388	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			7	58	0	0	0	0.001984	0	7	58				
SP110	3431	broad.mit.edu	37	2	231036817	231036817	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:231036817T>C	ENST00000358662.4	-	16	1858	c.1780A>G	c.(1780-1782)Acc>Gcc	p.T594A	AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000595586.2_RNA|SP110_ENST00000258381.6_Missense_Mutation_p.T594A|AC009950.2_ENST00000600787.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	594	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTCTCCAGGGTCTTAGATACA	0.522																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1780-1782)Acc>Gcc		SP110 nuclear body protein							162.0	151.0	155.0					2																	231036817		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231036817T>C	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1780A>G	2.37:g.231036817T>C	ENSP00000351488:p.Thr594Ala					SP110_ENST00000358662.4_Missense_Mutation_p.T594A|AC009950.2_ENST00000594622.1_RNA	p.T594A	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	16	1857	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	594			Bromo.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1780A>G	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	T	8.148	0.786742	0.16189	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.41065	1.01;1.03	3.42	-3.48	0.04739	Bromodomain (2);	.	.	.	.	T	0.11665	0.0284	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25398	-1.0133	9	0.11794	T	0.64	.	1.9129	0.03291	0.1788:0.4476:0.1794:0.1942	.	594;594	Q9HB58;Q9HB58-6	SP110_HUMAN;.	A	594	ENSP00000258381:T594A;ENSP00000351488:T594A	ENSP00000258381:T594A	T	-	1	0	SP110	230745061	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.181000	0.09740	-0.596000	0.05821	-0.371000	0.07208	ACC		0.522	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		5	159	0	0	0	0.000602	0	5	159				
KRT5	3852	broad.mit.edu	37	12	52913647	52913647	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr12:52913647A>G	ENST00000252242.4	-	1	824	c.434T>C	c.(433-435)gTc>gCc	p.V145A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	145	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCTGGTTGACAGTGACCTC	0.602																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(433-435)gTc>gCc		keratin 5							172.0	162.0	165.0					12																	52913647		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913647A>G		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.434T>C	12.37:g.52913647A>G	ENSP00000252242:p.Val145Ala						p.V145A	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	824	-			145			Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.434T>C	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113208	0.77210	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;D	0.97114	-4.25;-1.13;-3.34	5.66	5.66	0.87406	.	0.513918	0.17892	N	0.158472	D	0.98118	0.9379	M	0.87097	2.86	0.31219	N	0.697687	D	0.61080	0.989	P	0.58970	0.849	D	0.97912	1.0309	10	0.87932	D	0	.	11.7636	0.51918	0.9297:0.0:0.0703:0.0	.	145	P13647	K2C5_HUMAN	A	145;110;35;110	ENSP00000252242:V145A;ENSP00000447209:V35A;ENSP00000448041:V110A	ENSP00000252242:V145A	V	-	2	0	KRT5	51199914	.	.	0.890000	0.34922	0.796000	0.44982	.	.	2.157000	0.67596	0.533000	0.62120	GTC		0.602	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			20	99	0	0	0	0.008871	0	20	99				
CDK18	5129	broad.mit.edu	37	1	205492349	205492349	+	Silent	SNP	C	C	T	rs201606302		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:205492349C>T	ENST00000360066.2	+	2	355	c.54C>T	c.(52-54)ccC>ccT	p.P18P	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Silent_p.P18P|CDK18_ENST00000429964.2_Silent_p.P18P	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	16							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGTCAGTGCCCCGCACTGAGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		15791	0.001		0.0	False		,,,				2504	0.0				Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(52-54)ccC>ccT		cyclin-dependent kinase 18							76.0	81.0	79.0					1																	205492349		2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205492349C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.54C>T	1.37:g.205492349C>T						CDK18_ENST00000506784.1_Silent_p.P18P|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Silent_p.P18P	p.P18P	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			2	355	+			16					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.54C>T	CCDS44300.1																																																																																				0.552	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		40	62	0	0	0	0.007835	0	40	62				
CTNNA3	29119	broad.mit.edu	37	10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTCTTTGCGAACTTCCTC	0.423																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(283-285)cGc>cAc		catenin (cadherin-associated protein), alpha 3							113.0	115.0	114.0					10																	69366623		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69366623C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.284G>A	10.37:g.69366623C>T	ENSP00000389714:p.Arg95His					CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H	p.R95H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			3	458	-			95						Missense_Mutation	SNP	ENST00000433211.2	37	c.284G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735826	0.69189	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.66	4.75	0.60458	.	0.381500	0.20044	N	0.100458	T	0.59742	0.2216	L	0.58510	1.815	0.42656	D	0.993463	D;P;P	0.61697	0.99;0.464;0.952	P;B;P	0.58077	0.832;0.22;0.603	T	0.63075	-0.6718	10	0.87932	D	0	-2.4162	13.8737	0.63638	0.0:0.9241:0.0:0.0759	.	95;95;95	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	95	ENSP00000389714:R95H;ENSP00000362849:R95H;ENSP00000441444:R95H;ENSP00000330570:R95H	ENSP00000330570:R95H	R	-	2	0	CTNNA3	69036629	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.816000	0.38992	2.671000	0.90904	0.555000	0.69702	CGC		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		24	102	0	0	0	0.003330	0	24	102				
DLGAP2	9228	broad.mit.edu	37	8	1626399	1626399	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr8:1626399T>A	ENST00000421627.2	+	9	2202	c.2068T>A	c.(2068-2070)Tct>Act	p.S690T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	769					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTTTAAACGTTCTAACAGCGT	0.552																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2068-2070)Tct>Act		discs, large (Drosophila) homolog-associated protein 2							50.0	55.0	53.0					8																	1626399		2076	4194	6270	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626399T>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2068T>A	8.37:g.1626399T>A	ENSP00000400258:p.Ser690Thr						p.S690T	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2202	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	769					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2068T>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125483	0.77436	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.19806	2.12	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.79123	2.44	0.45962	D	0.998785	D;D	0.76494	0.999;0.999	D;D	0.74348	0.972;0.983	T	0.51124	-0.8745	10	0.59425	D	0.04	-9.0878	14.4352	0.67277	0.0:0.0:0.0:1.0	.	755;769	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	T	721;690	ENSP00000400258:S690T	ENSP00000348366:S721T	S	+	1	0	DLGAP2	1613806	1.000000	0.71417	0.997000	0.53966	0.611000	0.37282	7.559000	0.82265	1.810000	0.52873	0.455000	0.32223	TCT		0.552	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		13	82	0	0	0	0.003163	0	13	82				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	88	0	0	0	0.004672	0	3	88				
PTPN13	5783	broad.mit.edu	37	4	87643480	87643480	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr4:87643480T>C	ENST00000411767.2	+	10	1564	c.1501T>C	c.(1501-1503)Ttg>Ctg	p.L501L	PTPN13_ENST00000436978.1_Silent_p.L501L|PTPN13_ENST00000511467.1_Silent_p.L501L|PTPN13_ENST00000316707.6_Silent_p.L501L|PTPN13_ENST00000427191.2_Silent_p.L501L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	501					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGTCTCGGTTGAGCCTATA	0.443																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1501-1503)Ttg>Ctg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							135.0	127.0	130.0					4																	87643480		1931	4141	6072	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87643480T>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1501T>C	4.37:g.87643480T>C						PTPN13_ENST00000511467.1_Silent_p.L501L|PTPN13_ENST00000411767.2_Silent_p.L501L|PTPN13_ENST00000427191.2_Silent_p.L501L|PTPN13_ENST00000316707.6_Silent_p.L501L	p.L501L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	10	1981	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	501					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.1501T>C	CCDS47094.1																																																																																				0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			20	126	0	0	0	0.010504	0	20	126				
ZNF799	90576	broad.mit.edu	37	19	12501372	12501372	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:12501372T>C	ENST00000430385.3	-	4	2040	c.1840A>G	c.(1840-1842)Act>Gct	p.T614A	ZNF799_ENST00000419318.1_Missense_Mutation_p.T582A|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCAGTGTGAGTTTTTTTCCAG	0.408																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1744-1746)Act>Gct		zinc finger protein 799							111.0	116.0	115.0					19																	12501372		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501372T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1840A>G	19.37:g.12501372T>C	ENSP00000411084:p.Thr614Ala					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.T614A	p.T582A			Q96GE5	ZN799_HUMAN			4	2493	-			614						Missense_Mutation	SNP	ENST00000430385.3	37	c.1744A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	9.151	1.016338	0.19355	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08193	3.12;3.24	.	.	.	Zinc finger, C2H2 (1);	.	.	.	.	T	0.05640	0.0148	N	0.21324	0.655	0.21355	N	0.999711	B	0.19200	0.034	B	0.17098	0.017	T	0.37842	-0.9688	7	0.72032	D	0.01	.	.	.	.	.	614	Q96GE5	ZN799_HUMAN	A	582;614	ENSP00000415278:T582A;ENSP00000411084:T614A	ENSP00000415278:T582A	T	-	1	0	ZNF799	12362372	.	.	0.919000	0.36401	0.402000	0.30811	.	.	0.103000	0.17682	0.102000	0.15555	ACT		0.408	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	184	0	0	0	0.009096	0	4	184				
SHC4	399694	broad.mit.edu	37	15	49148220	49148220	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:49148220A>C	ENST00000332408.4	-	8	1600	c.1172T>G	c.(1171-1173)aTg>aGg	p.M391R	SHC4_ENST00000537958.1_Missense_Mutation_p.M105R|SHC4_ENST00000396535.3_Missense_Mutation_p.M148R	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	391	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTTGATCCGCATATCTGAAAC	0.428																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1171-1173)aTg>aGg		SHC (Src homology 2 domain containing) family, member 4							167.0	153.0	158.0					15																	49148220		2197	4294	6491	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49148220A>C	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1172T>G	15.37:g.49148220A>C	ENSP00000329668:p.Met391Arg					SHC4_ENST00000537958.1_Missense_Mutation_p.M105R|SHC4_ENST00000396535.3_Missense_Mutation_p.M148R	p.M391R	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	8	1600	-		all_lung(180;0.00466)	391			CH1.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.1172T>G	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	A	6.521	0.464408	0.12402	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.31510	3.46;1.49;1.51	4.88	3.73	0.42828	.	0.549745	0.17468	N	0.173164	T	0.25419	0.0618	L	0.39245	1.2	0.23823	N	0.996747	B;B	0.25169	0.119;0.017	B;B	0.36464	0.225;0.032	T	0.19128	-1.0315	10	0.46703	T	0.11	-10.9409	2.3876	0.04370	0.6124:0.0:0.1577:0.2299	.	148;391	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	R	391;148;105	ENSP00000329668:M391R;ENSP00000379786:M148R;ENSP00000443300:M105R	ENSP00000329668:M391R	M	-	2	0	SHC4	46935512	0.014000	0.17966	0.915000	0.36163	0.850000	0.48378	0.969000	0.29370	2.048000	0.60808	0.533000	0.62120	ATG		0.428	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		19	138	0	0	0	0.007413	0	19	138				
ULK4	54986	broad.mit.edu	37	3	41795900	41795900	+	Silent	SNP	A	A	G	rs377580198	byFrequency	TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:41795900A>G	ENST00000301831.4	-	22	2736	c.2274T>C	c.(2272-2274)taT>taC	p.Y758Y		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	758					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAATCAAAATATATAGAAGAA	0.383													A|||	3	0.000599042	0.0023	0.0	5008	,	,		16335	0.0		0.0	False		,,,				2504	0.0					ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2272-2274)taT>taC		unc-51 like kinase 4		A		1,3665		0,1,1832	105.0	101.0	102.0		2274	2.3	0.0	3		102	0,8188		0,0,4094	no	coding-synonymous	ULK4	NM_017886.2		0,1,5926	GG,GA,AA		0.0,0.0273,0.0084		758/1276	41795900	1,11853	1833	4094	5927	SO:0001819	synonymous_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41795900A>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2274T>C	3.37:g.41795900A>G							p.Y758Y	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	22	2736	-			758					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	c.2274T>C	CCDS43071.1																																																																																				0.383	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		21	114	0	0	0	0.012319	0	21	114				
SCN2B	6327	broad.mit.edu	37	11	118037639	118037639	+	Missense_Mutation	SNP	G	G	A	rs140034265		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:118037639G>A	ENST00000278947.5	-	4	852	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	204					cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCACCGTCCGTCTTGCCCTC	0.602																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(610-612)aCg>aTg		sodium channel, voltage-gated, type II, beta subunit		G	MET/THR	0,4400		0,0,2200	257.0	184.0	209.0		611	4.1	1.0	11	dbSNP_134	209	2,8590	2.2+/-6.3	0,2,4294	no	missense	SCN2B	NM_004588.4	81	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	benign	204/216	118037639	2,12990	2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118037639G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.611C>T	11.37:g.118037639G>A	ENSP00000278947:p.Thr204Met						p.T204M	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	4	852	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	204					O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.611C>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547448	0.45383	0.0	2.33E-4	ENSG00000149575	ENST00000278947	D	0.97352	-4.35	5.04	4.11	0.48088	.	0.404097	0.28203	N	0.016213	D	0.93054	0.7789	N	0.24115	0.695	0.37391	D	0.912452	B	0.15930	0.015	B	0.09377	0.004	D	0.91120	0.4929	10	0.42905	T	0.14	-14.4638	13.6538	0.62327	0.0763:0.0:0.9237:0.0	.	204	O60939	SCN2B_HUMAN	M	204	ENSP00000278947:T204M	ENSP00000278947:T204M	T	-	2	0	SCN2B	117542849	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	3.475000	0.53136	1.338000	0.45544	0.655000	0.94253	ACG		0.602	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		52	70	0	0	0	0.014410	0	52	70				
ZPBP	11055	broad.mit.edu	37	7	50023024	50023024	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:50023024C>T	ENST00000046087.2	-	7	944	c.875G>A	c.(874-876)gGt>gAt	p.G292D	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291D|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTGGAGAGTACCTTCAATATA	0.353																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(874-876)gGt>gAt		zona pellucida binding protein							82.0	79.0	80.0					7																	50023024		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50023024C>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.875G>A	7.37:g.50023024C>T	ENSP00000046087:p.Gly292Asp					ZPBP_ENST00000419417.1_Missense_Mutation_p.G291D|ZPBP_ENST00000491129.1_5'UTR	p.G292D	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			7	944	-	Glioma(55;0.08)|all_neural(89;0.245)		292					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.875G>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189729	0.38707	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.55588	0.51;0.51	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000010	T	0.56366	0.1980	M	0.70595	2.14	0.48762	D	0.999702	B;B	0.29162	0.235;0.235	B;B	0.32465	0.146;0.146	T	0.52726	-0.8537	9	.	.	.	-16.4978	17.6372	0.88125	0.0:1.0:0.0:0.0	.	291;292	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	D	292;291	ENSP00000046087:G292D;ENSP00000402071:G291D	.	G	-	2	0	ZPBP	49993570	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.300000	0.51834	2.686000	0.91538	0.573000	0.79308	GGT		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	47	0	0	0	0.004672	0	3	47				
TLE3	7090	broad.mit.edu	37	15	70366872	70366872	+	Splice_Site	SNP	C	C	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:70366872C>T	ENST00000558939.1	-	6	1749	c.372G>A	c.(370-372)ggG>ggA	p.G124G	TLE3_ENST00000317509.8_Splice_Site_p.G124G|TLE3_ENST00000559929.1_Silent_p.G124G|TLE3_ENST00000440567.3_Splice_Site_p.G117G|TLE3_ENST00000560589.1_Splice_Site_p.G68G|TLE3_ENST00000558201.1_Splice_Site_p.G130G|TLE3_ENST00000558379.1_Splice_Site_p.G124G|TLE3_ENST00000557907.1_Splice_Site_p.G124G|TLE3_ENST00000451782.2_Splice_Site_p.G124G|TLE3_ENST00000560939.1_Splice_Site_p.G130G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_Silent_p.G58G|TLE3_ENST00000442299.2_Splice_Site_p.G124G|TLE3_ENST00000557997.1_Splice_Site_p.G124G|TLE3_ENST00000559048.1_Splice_Site_p.G130G	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	124	Gln-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCCACGTACCCCGATGATGG	0.557																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e6+1		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							83.0	91.0	88.0					15																	70366872		2186	4287	6473	SO:0001630	splice_region_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70366872C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.372+1G>A	15.37:g.70366872C>T						TLE3_ENST00000442299.2_Splice_Site_p.G124_splice|TLE3_ENST00000557997.1_Splice_Site_p.G124_splice|TLE3_ENST00000558379.1_Splice_Site_p.G124_splice|TLE3_ENST00000560939.1_Splice_Site_p.G130_splice|TLE3_ENST00000317509.8_Splice_Site_p.G124_splice|TLE3_ENST00000451782.2_Splice_Site_p.G124_splice|TLE3_ENST00000558201.1_Splice_Site_p.G130_splice|TLE3_ENST00000539550.1_Silent_p.G58G|TLE3_ENST00000557907.1_Splice_Site_p.G124_splice|TLE3_ENST00000559929.1_Silent_p.G124G|TLE3_ENST00000560589.1_Splice_Site_p.G68_splice|TLE3_ENST00000440567.3_Splice_Site_p.G117_splice|TLE3_ENST00000559048.1_Splice_Site_p.G130_splice|TLE3_ENST00000559191.1_Intron	p.G124_splice			Q04726	TLE3_HUMAN			6	1749	-			124			Gln-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Splice_Site	SNP	ENST00000558939.1	37	c.372_splice	CCDS45293.1																																																																																				0.557	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078	Silent	4	28	0	0	0	0.000602	0	4	28				
UGT1A7	54577	broad.mit.edu	37	2	234591431	234591431	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:234591431T>C	ENST00000373426.3	+	1	848	c.848T>C	c.(847-849)gTg>gCg	p.V283A	UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	283					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	GGAAAGCCAGTGCCTATGGTA	0.368																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(847-849)gTg>gCg									123.0	122.0	122.0					2																	234591431		2202	4298	6500	SO:0001583	missense	0							g.chr2:234591431T>C	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.848T>C	2.37:g.234591431T>C	ENSP00000362525:p.Val283Ala					UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.V283A	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	848	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.848T>C	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.26|13.26	2.183901|2.183901	0.38609|0.38609	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.59364	.|0.27	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	.|.	.|.	.|.	.|.	T|T	0.47451|0.47451	0.1446|0.1446	N|N	0.25485|0.25485	0.75|0.75	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19583	.|0.037;0.037	.|B;B	.|0.25759	.|0.063;0.063	T|T	0.49000|0.49000	-0.8984|-0.8984	5|9	.|0.87932	.|D	.|0	.|.	12.6266|12.6266	0.56634|0.56634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|283;283	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	R|A	140|283	.|ENSP00000362525:V283A	.|ENSP00000362525:V283A	C|V	+|+	1|2	0|0	UGT1A7|UGT1A7	234256170|234256170	0.049000|0.049000	0.20398|0.20398	0.002000|0.002000	0.10522|0.10522	0.045000|0.045000	0.14185|0.14185	2.369000|2.369000	0.44231|0.44231	1.657000|1.657000	0.50732|0.50732	0.397000|0.397000	0.26171|0.26171	TGC|GTG		0.368	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		32	191	0	0	0	0.013726	0	32	191				
DYNC2H1	79659	broad.mit.edu	37	11	103056994	103056994	+	Silent	SNP	T	T	C			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:103056994T>C	ENST00000375735.2	+	42	6801	c.6657T>C	c.(6655-6657)tcT>tcC	p.S2219S	DYNC2H1_ENST00000398093.3_Silent_p.S2219S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2219					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CACGAGAATCTCCTCCAGACT	0.378																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(6655-6657)tcT>tcC		dynein, cytoplasmic 2, heavy chain 1							70.0	62.0	64.0					11																	103056994		1820	4083	5903	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103056994T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6657T>C	11.37:g.103056994T>C						DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.S2219S	p.S2219S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	42	6801	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2219					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.6657T>C	CCDS53701.1																																																																																				0.378	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		8	34	0	0	0	0.006214	0	8	34				
SLC4A2	6522	broad.mit.edu	37	7	150767364	150767364	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:150767364G>T	ENST00000485713.1	+	10	2420	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	SLC4A2_ENST00000461735.1_Missense_Mutation_p.E446D|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E460D|SLC4A2_ENST00000392826.2_Missense_Mutation_p.E451D|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E378D	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	460				LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 7; CAA27556). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGGCTGAGAGTGACCCCC	0.652																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1378-1380)gaG>gaT		solute carrier family 4 (anion exchanger), member 2							53.0	55.0	54.0					7																	150767364		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767364G>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1380G>T	7.37:g.150767364G>T	ENSP00000419412:p.Glu460Asp					SLC4A2_ENST00000392826.2_Missense_Mutation_p.E451D|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E460D|SLC4A2_ENST00000461735.1_Missense_Mutation_p.E446D|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E378D	p.E460D	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	2420	+			460	LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556).				B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1380G>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	g	7.029	0.560317	0.13498	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.07	2.25	0.28309	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.414413	0.26397	N	0.024620	T	0.42787	0.1218	N	0.11818	0.18	0.29012	N	0.886788	B;B;B	0.31054	0.014;0.306;0.302	B;B;B	0.33121	0.011;0.131;0.158	T	0.33929	-0.9849	10	0.13470	T	0.59	.	8.5386	0.33379	0.2634:0.0:0.7366:0.0	.	451;446;460	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	D	460;460;378;451;446	ENSP00000419412:E460D;ENSP00000405600:E460D;ENSP00000311402:E378D;ENSP00000376571:E451D;ENSP00000419164:E446D	ENSP00000311402:E378D	E	+	3	2	SLC4A2	150398297	0.090000	0.21635	0.988000	0.46212	0.852000	0.48524	0.092000	0.15066	0.666000	0.31087	0.550000	0.68814	GAG		0.652	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		10	83	1	0	9.70103e-10	0.008291	1.3176e-09	10	83				
LOC101927533	101927533	broad.mit.edu	37	2	65738847	65738847	+	lincRNA	DEL	T	T	-	rs201837109|rs35572946		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:65738847delT	ENST00000377977.3	+	0	862																											ttttTTGAAATTTTTTTTTTT	0.294																																						ENST00000377977.3																			0																																																			0							g.chr2:65738847delT																													2.37:g.65738847delT														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.294	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121659248	121659249	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:121659248_121659249insA	ENST00000393386.2	+	13	5325_5326	c.4914_4915insA	c.(4915-4917)atafs	p.I1639fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.I779fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1639					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAAGGCAGTTATACCCCTTGT	0.426																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(4912-4917)gttaccfs		protein tyrosine phosphatase, receptor-type, Z polypeptide 1																																				SO:0001589	frameshift_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121659248_121659249insA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4915dupA	7.37:g.121659249_121659249dupA	ENSP00000377047:p.Ile1639fs					PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.T779fs	p.T1639fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			13	5325_5326	+			1639					A4D0W5|C9JFM0|O76043|Q9UDR6	Frame_Shift_Ins	INS	ENST00000393386.2	37	c.4914_4915insA	CCDS34740.1																																																																																				0.426	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		44	64						44	64	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G	rs368999726		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr17:43591984_43591985insG	ENST00000579913.1	-	0	537_538				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTGGGTCATGCGGAGCGAGTTT	0.411																																						ENST00000253803.2																			0																																																			0							g.chr17:43591984_43591985insG	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591986_43591986dupG						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.411	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	90						7	90	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889651	58889662	+	lincRNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs374603250|rs111212420|rs117834183		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538																																						ENST00000432910.1																			0																																																			0							g.chr20:58889651_58889662delCATTCTCCCATT																													20.37:g.58889651_58889662delCATTCTCCCATT								NR_046099.1						0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.538	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			4	4						4	4	---	---	---	---
