#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GPATCH4	54865	broad.mit.edu	37	1	156565214	156565214	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:156565214T>C	ENST00000438976.2	-	8	949	c.919A>G	c.(919-921)Aag>Gag	p.K307E	GPATCH4_ENST00000368232.4_Missense_Mutation_p.K302E|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	302							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCCCATCTTCTCCTCTTCA	0.537																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(904-906)Aag>Gag		G patch domain containing 4							241.0	232.0	235.0					1																	156565214		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565214T>C	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.919A>G	1.37:g.156565214T>C	ENSP00000396441:p.Lys307Glu		Somatic				GPATCH4_ENST00000438976.2_Missense_Mutation_p.K307E	p.K302E	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	WXS	Illumina GAIIx	Phase_I	Q5T3I0	GPTC4_HUMAN			8	1036	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		302					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.904A>G	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	T	9.566	1.119799	0.20877	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976	T;T	0.43294	0.95;0.95	4.84	0.438	0.16560	.	1.997720	0.02395	N	0.080114	T	0.08403	0.0209	N	0.20807	0.61	0.19775	N	0.999959	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08371	-1.0725	10	0.11794	T	0.64	.	4.5203	0.11956	0.1524:0.5536:0.0:0.294	.	307;302	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	E	302;302;307	ENSP00000357215:K302E;ENSP00000396441:K307E	ENSP00000357212:K302E	K	-	1	0	GPATCH4	154831838	0.000000	0.05858	0.000000	0.03702	0.510000	0.34073	-0.310000	0.08135	-0.017000	0.14103	0.455000	0.32223	AAG		0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		25	172	25	172	---	---	---	---
FCGR2A	2212	broad.mit.edu	37	1	161479821	161479821	+	Silent	SNP	C	C	A	rs368752463		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:161479821C>A	ENST00000271450.6	+	4	614	c.576C>A	c.(574-576)ggC>ggA	p.G192G	FCGR2A_ENST00000367972.4_Silent_p.G191G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	192	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACATAGGCTACACGCTGT	0.512																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(574-576)ggC>ggA		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						118.0	101.0	107.0					1																	161479821		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479821C>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.576C>A	1.37:g.161479821C>A			Somatic				FCGR2A_ENST00000367972.4_Silent_p.G191G	p.G192G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	WXS	Illumina GAIIx	Phase_I	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	614	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		192			Ig-like C2-type 2.		Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.576C>A	CCDS44264.1																																																																																				0.512	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		12	89	12	89	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98351131	98351131	+	Silent	SNP	C	C	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:98351131C>T	ENST00000264972.5	+	9	1253	c.1038C>T	c.(1036-1038)tgC>tgT	p.C346C	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000451498.2_Silent_p.C39C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACTTGGCTGCGGCAACTTTG	0.627																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1036-1038)tgC>tgT		zeta-chain (TCR) associated protein kinase 70kDa							150.0	127.0	135.0					2																	98351131		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351131C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1038C>T	2.37:g.98351131C>T			Somatic				ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.C39C	p.C346C	NM_001079.3	NP_001070.2	WXS	Illumina GAIIx	Phase_I	P43403	ZAP70_HUMAN			9	1253	+			346			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1038C>T	CCDS33254.1																																																																																				0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			35	136	35	136	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120918486	120918486	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:120918486T>C	ENST00000263713.5	+	21	2037	c.1823T>C	c.(1822-1824)cTc>cCc	p.L608P	EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	608					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAG	0.393																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1822-1824)cTc>cCc		erythrocyte membrane protein band 4.1 like 5							137.0	143.0	141.0					2																	120918486		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120918486T>C	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1823T>C	2.37:g.120918486T>C	ENSP00000263713:p.Leu608Pro		Somatic				EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR	p.L608P	NM_020909.3	NP_065960.2	WXS	Illumina GAIIx	Phase_I	Q9HCM4	E41L5_HUMAN			21	2037	+			608					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1823T>C	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492300	0.44352	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	D;D;D	0.82433	-1.59;-1.61;-1.6	5.4	4.24	0.50183	.	0.824612	0.10499	N	0.667479	T	0.70098	0.3185	L	0.27053	0.805	0.19575	N	0.999969	P;B;B	0.34757	0.467;0.34;0.229	B;B;B	0.30495	0.116;0.116;0.04	T	0.58429	-0.7638	10	0.29301	T	0.29	.	7.4194	0.27063	0.0:0.0962:0.0:0.9038	.	608;608;608	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	P	608	ENSP00000263713:L608P;ENSP00000393856:L608P;ENSP00000390439:L608P	ENSP00000263713:L608P	L	+	2	0	EPB41L5	120634956	0.009000	0.17119	0.010000	0.14722	0.551000	0.35334	0.899000	0.28417	2.160000	0.67779	0.533000	0.62120	CTC		0.393	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		3	167	3	167	---	---	---	---
USP37	57695	broad.mit.edu	37	2	219353074	219353074	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:219353074G>T	ENST00000258399.3	-	15	1955	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000415516.1_Missense_Mutation_p.P443T	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	515	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGGGAGTGGTTTTTTCCTA	0.323																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1543-1545)Cca>Aca		ubiquitin specific peptidase 37							115.0	117.0	116.0					2																	219353074		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219353074G>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1543C>A	2.37:g.219353074G>T	ENSP00000258399:p.Pro515Thr		Somatic				USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000415516.1_Missense_Mutation_p.P443T	p.P515T	NM_020935.2	NP_065986	WXS	Illumina GAIIx	Phase_I	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	15	1955	-		Renal(207;0.0915)	515					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1543C>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498130	0.26861	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.41400	1.0;1.0;1.03;1.0	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.184108	0.47093	D	0.000249	T	0.23451	0.0567	N	0.04880	-0.145	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.15484	0.013;0.006	T	0.06075	-1.0847	10	0.36615	T	0.2	-10.9939	12.8558	0.57884	0.0855:0.0:0.9145:0.0	.	443;515	Q86T82-2;Q86T82	.;UBP37_HUMAN	T	515;515;443;515	ENSP00000258399:P515T;ENSP00000393662:P515T;ENSP00000400902:P443T;ENSP00000396585:P515T	ENSP00000258399:P515T	P	-	1	0	USP37	219061318	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.501000	0.66950	2.587000	0.87381	0.655000	0.94253	CCA		0.323	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		8	85	8	85	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38766807	38766807	+	Splice_Site	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:38766807T>C	ENST00000449082.2	-	17	3087		c.e17-2			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGCTCCTGCTAGTGAGAGAG	0.582																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.e17-2		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						47.0	42.0	44.0					3																	38766807		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38766807T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3088-2A>G	3.37:g.38766807T>C			Somatic						NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3087	-								A6NDQ1	Splice_Site	SNP	ENST00000449082.2	37		CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771639	0.31320	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.38	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.49299	D	0.999778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2116	0.25937	0.3578:0.0:0.0:0.6422	.	.	.	.	.	-1	.	.	.	-	.	.	SCN10A	38741811	0.002000	0.14202	0.303000	0.25071	0.650000	0.38633	0.158000	0.16422	0.261000	0.21753	0.454000	0.30748	.		0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Intron	7	28	7	28	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132196839	132196839	+	Missense_Mutation	SNP	A	A	G	rs387907571		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:132196839A>G	ENST00000260818.6	+	24	2812	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	855					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATTTTTCAATGAGCTTTAT	0.343																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2563-2565)aAt>aGt		DnaJ (Hsp40) homolog, subfamily C, member 13							58.0	61.0	60.0					3																	132196839		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196839A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2564A>G	3.37:g.132196839A>G	ENSP00000260818:p.Asn855Ser		Somatic					p.N855S	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	O75165	DJC13_HUMAN			24	2812	+			855					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2564A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924742	0.73213	.	.	ENSG00000138246	ENST00000260818	T	0.12361	2.69	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.64170	1.965	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.02705	-1.1121	10	0.49607	T	0.09	.	15.7331	0.77822	1.0:0.0:0.0:0.0	.	855	O75165	DJC13_HUMAN	S	855	ENSP00000260818:N855S	ENSP00000260818:N855S	N	+	2	0	DNAJC13	133679529	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.743000	0.91592	2.169000	0.68431	0.528000	0.53228	AAT		0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		5	25	5	25	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146058891	146058891	+	Silent	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:146058891A>C	ENST00000447906.2	-	21	3223	c.3036T>G	c.(3034-3036)gtT>gtG	p.V1012V	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.V947V			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1012					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2839-2841)gtT>gtG		OTU domain containing 4							142.0	149.0	146.0					4																	146058891		2203	4299	6502	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058891A>C		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3036T>G	4.37:g.146058891A>C			Somatic				OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	p.V947V	NM_001102653.1	NP_001096123.1	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			21	2978	-	all_hematologic(180;0.151)		1011					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2841T>G																																																																																					0.388	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	166	3	166	---	---	---	---
SNRPC	6631	broad.mit.edu	37	6	34738121	34738121	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:34738121A>T	ENST00000244520.5	+	5	442	c.304A>T	c.(304-306)Atg>Ttg	p.M102L	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000374017.3_Missense_Mutation_p.M123L	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGCCCTCCCATGATGCCAAT	0.502																																					NSCLC(131;576 1831 5287 11175 13324)	ENST00000374017.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						c.(367-369)Atg>Ttg		small nuclear ribonucleoprotein polypeptide C							95.0	99.0	97.0					6																	34738121		2203	4300	6503	SO:0001583	missense	6631				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding	g.chr6:34738121A>T		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.304A>T	6.37:g.34738121A>T	ENSP00000244520:p.Met102Leu		Somatic				SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000244520.5_Missense_Mutation_p.M102L	p.M123L			WXS	Illumina GAIIx	Phase_I	P09234	RU1C_HUMAN			4	654	+			102						Missense_Mutation	SNP	ENST00000244520.5	37	c.367A>T	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735629	0.69189	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.48522	0.81;0.81;0.81	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.49126	1.545	0.58432	D	0.999999	B	0.27068	0.167	B	0.38194	0.267	T	0.18713	-1.0328	10	0.10902	T	0.67	.	14.738	0.69430	1.0:0.0:0.0:0.0	.	102	P09234	RU1C_HUMAN	L	102;61;123	ENSP00000244520:M102L;ENSP00000363130:M61L;ENSP00000363129:M123L	ENSP00000244520:M102L	M	+	1	0	SNRPC	34846099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.037000	0.93765	1.889000	0.54706	0.523000	0.50628	ATG		0.502	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		16	90	16	90	---	---	---	---
MRPL2	51069	broad.mit.edu	37	6	43023654	43023654	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:43023654G>A	ENST00000388752.3	-	5	1036	c.612C>T	c.(610-612)gcC>gcT	p.A204A	CUL7_ENST00000265348.3_5'Flank|CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	204					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGATATATTGGGCACCCCGGC	0.557																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(610-612)gcC>gcT		mitochondrial ribosomal protein L2							46.0	41.0	43.0					6																	43023654		2203	4300	6503	SO:0001819	synonymous_variant	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023654G>A	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.612C>T	6.37:g.43023654G>A			Somatic				MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	p.A204A	NM_015950.3	NP_057034.2	WXS	Illumina GAIIx	Phase_I	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	5	1036	-		Ovarian(999;0.0014)	204					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Silent	SNP	ENST00000388752.3	37	c.612C>T	CCDS34454.1																																																																																				0.557	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			5	50	5	50	---	---	---	---
DST	667	broad.mit.edu	37	6	56470845	56470845	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:56470845C>G	ENST00000361203.3	-	36	7955	c.7948G>C	c.(7948-7950)Gat>Cat	p.D2650H	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D2324H|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D2650H|DST_ENST00000370769.4_Missense_Mutation_p.D2650H|DST_ENST00000370754.5_Missense_Mutation_p.D2828H			Q03001	DYST_HUMAN	dystonin	2650					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCATTTTATCCAGAAGAATC	0.328																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(8482-8484)Gat>Cat		dystonin							118.0	114.0	115.0					6																	56470845		1823	4080	5903	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56470845C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7948G>C	6.37:g.56470845C>G	ENSP00000354508:p.Asp2650His		Somatic				DST_ENST00000312431.6_Missense_Mutation_p.D2650H|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D2650H|DST_ENST00000361203.3_Missense_Mutation_p.D2650H|DST_ENST00000446842.2_Missense_Mutation_p.D2324H|DST_ENST00000244364.6_Intron	p.D2828H			WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	8481	-	Lung NSC(77;0.103)		2650					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.8482G>C		.	.	.	.	.	.	.	.	.	.	C	13.50	2.256704	0.39896	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82711	-0.15;-0.16;0.79;-1.64;-0.16;-0.45	5.39	1.4	0.22301	.	1.008340	0.07967	N	0.983421	T	0.72684	0.3491	.	.	.	0.29614	N	0.846731	D	0.58268	0.982	P	0.50378	0.639	T	0.60131	-0.7323	8	0.56958	D	0.05	.	4.9388	0.13954	0.147:0.6091:0.0:0.2439	.	2324	Q03001-9	.	H	2828;2650;2324;2650;2650;2324	ENSP00000359790:D2828H;ENSP00000359805:D2650H;ENSP00000393645:D2324H;ENSP00000307959:D2650H;ENSP00000354508:D2650H;ENSP00000404924:D2324H	ENSP00000307959:D2650H	D	-	1	0	DST	56578804	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	0.376000	0.20535	0.356000	0.24157	0.400000	0.26472	GAT		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	64	7	64	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61777895	61777895	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:61777895G>A	ENST00000423902.2	+	38	8876	c.8397G>A	c.(8395-8397)atG>atA	p.M2799I	CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2799					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCCCCTGATGCTGCCAGGAA	0.622																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(8395-8397)atG>atA		chromodomain helicase DNA binding protein 7							27.0	28.0	28.0					8																	61777895		2022	4189	6211	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61777895G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8397G>A	8.37:g.61777895G>A	ENSP00000392028:p.Met2799Ile		Somatic				CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	p.M2799I	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8876	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2799					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8397G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823468	0.71143	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.82711	-1.64;1.93	5.14	5.14	0.70334	.	0.112500	0.64402	D	0.000018	T	0.81964	0.4934	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.77566	-0.2540	10	0.36615	T	0.2	-7.9773	18.5845	0.91183	0.0:0.0:1.0:0.0	.	2799	Q9P2D1	CHD7_HUMAN	I	2799;2799;750	ENSP00000392028:M2799I;ENSP00000437061:M750I	ENSP00000307304:M2799I	M	+	3	0	CHD7	61940449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.205000	0.95048	2.373000	0.80994	0.591000	0.81541	ATG		0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	14	3	14	---	---	---	---
PSAP	5660	broad.mit.edu	37	10	73574941	73574941	+	IGR	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr10:73574941A>C	ENST00000394936.3	-	0	2866				CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000224721.6_Missense_Mutation_p.E3329A|CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ACTGCCTTCGAGCGCAACGCC	0.642																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9985-9987)gAg>gCg		cadherin-related 23							20.0	27.0	25.0					10																	73574941		2162	4248	6410	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73574941A>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574941A>C			Somatic				CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A	p.E3329A	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			69	9991	+			3324					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.9986A>C	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748419	0.69533	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.80304	-1.36	5.14	5.14	0.70334	.	0.065602	0.64402	D	0.000012	D	0.83862	0.5346	L	0.29908	0.895	0.52099	D	0.999947	B;D;P;P	0.61697	0.323;0.99;0.792;0.792	B;D;B;B	0.72982	0.073;0.979;0.257;0.257	D	0.86036	0.1516	10	0.72032	D	0.01	.	14.9831	0.71327	1.0:0.0:0.0:0.0	.	186;221;3289;3324	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	A	3329;3289;3327;1084	ENSP00000381768:E1084A	ENSP00000224721:E3329A	E	+	2	0	CDH23	73244947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.580000	0.90784	1.954000	0.56735	0.533000	0.62120	GAG		0.642	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		4	16	4	16	---	---	---	---
NUP107	57122	broad.mit.edu	37	12	69085781	69085781	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:69085781G>T	ENST00000229179.4	+	5	669	c.337G>T	c.(337-339)Gca>Tca	p.A113S	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.A84S	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	113					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGGCAGCTGCATTTTCATC	0.393																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(337-339)Gca>Tca		nucleoporin 107kDa							83.0	75.0	78.0					12																	69085781		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69085781G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.337G>T	12.37:g.69085781G>T	ENSP00000229179:p.Ala113Ser		Somatic				NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	p.A113S	NM_020401.2	NP_065134.1	WXS	Illumina GAIIx	Phase_I	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		5	669	+	Breast(13;6.25e-06)		113					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.337G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619921	0.28801	.	.	ENSG00000111581	ENST00000229179;ENST00000539906;ENST00000538549	.	.	.	5.5	5.5	0.81552	.	0.205029	0.49916	D	0.000128	T	0.45776	0.1359	L	0.36672	1.1	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.006	T	0.30327	-0.9982	8	.	.	.	-12.6252	11.9696	0.53055	0.0807:0.0:0.9193:0.0	.	84;113	B4DZ67;P57740	.;NU107_HUMAN	S	113;84;13	.	.	A	+	1	0	NUP107	67372048	0.985000	0.35326	1.000000	0.80357	0.934000	0.57294	2.179000	0.42528	2.756000	0.94617	0.563000	0.77884	GCA		0.393	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		6	42	6	42	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112673539	112673539	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:112673539G>A	ENST00000430131.2	-	35	5373	c.4228C>T	c.(4228-4230)Ctc>Ttc	p.L1410F	HECTD4_ENST00000550722.1_Missense_Mutation_p.L1686F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1410					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGGAGAGGAGTTTGGACACA	0.522																																						ENST00000550722.1																			0											c.(5056-5058)Ctc>Ttc		HECT domain containing E3 ubiquitin protein ligase 4							34.0	35.0	35.0					12																	112673539		2026	4191	6217	SO:0001583	missense	283450							g.chr12:112673539G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4228C>T	12.37:g.112673539G>A	ENSP00000404379:p.Leu1410Phe		Somatic				HECTD4_ENST00000430131.2_Missense_Mutation_p.L1410F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F	p.L1686F	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					36	5451	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5056C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.705855	0.96812	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.67171	-0.25;-0.23;-0.25	6.03	6.03	0.97812	.	.	.	.	.	T	0.75012	0.3792	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.76629	-0.2889	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1410	Q9Y4D8	K0614_HUMAN	F	1660;1410;1686	ENSP00000366783:L1660F;ENSP00000404379:L1410F;ENSP00000449784:L1686F	ENSP00000366783:L1660F	L	-	1	0	C12orf51	111157922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.363000	0.97131	2.854000	0.98071	0.655000	0.94253	CTC		0.522	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	20	4	20	---	---	---	---
KIAA0226L	80183	broad.mit.edu	37	13	46918950	46918950	+	Missense_Mutation	SNP	C	C	A	rs530267659	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:46918950C>A	ENST00000429979.1	-	14	2406	c.1802G>T	c.(1801-1803)gGc>gTc	p.G601V	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	601										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACAAATAAAGCCCTTTCCTTG	0.338													C|||	2	0.000399361	0.0	0.0	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.002					ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(1801-1803)gGc>gTc		KIAA0226-like							81.0	72.0	75.0					13																	46918950		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46918950C>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1802G>T	13.37:g.46918950C>A	ENSP00000396935:p.Gly601Val		Somatic				KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378781.3_3'UTR	p.G601V	NM_025113.2	NP_079389.2	WXS	Illumina GAIIx	Phase_I	Q9H714	CM018_HUMAN			14	2406	-			601					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1802G>T	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.643059|4.643059	0.87859|0.87859	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000378797;ENST00000378787|ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T|T;T;T;T	0.42131|0.69175	0.98;0.98|-0.38;-0.36;-0.38;-0.29	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	1.003200|.	0.08035|.	N|.	0.994137|.	D|D	0.86443|0.86443	0.5934|0.5934	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D|D;D;D;D;D	0.61697|0.89917	0.99|1.0;1.0;1.0;1.0;1.0	P|D;D;D;D;D	0.55749|0.97110	0.783|1.0;1.0;0.999;0.999;0.999	D|D	0.88461|0.88461	0.3055|0.3055	10|9	0.14656|0.87932	T|D	0.56|0	-20.6098|-20.6098	19.3377|19.3377	0.94326|0.94326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	550|444;444;601;466;534	Q9H714-4|B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.|.;.;K226L_HUMAN;.;.	S|V	550|601;534;601;444;444;466	ENSP00000368074:A550S;ENSP00000368064:A550S|ENSP00000396935:G601V;ENSP00000368061:G534V;ENSP00000374558:G601V;ENSP00000437501:G466V	ENSP00000368064:A550S|ENSP00000315633:G444V	A|G	-|-	1|2	0|0	KIAA0226L|KIAA0226L	45816951|45816951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.380000|7.380000	0.79704|0.79704	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GCT|GGC		0.338	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		3	25	3	25	---	---	---	---
SLC7A8	23428	broad.mit.edu	37	14	23652104	23652104	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:23652104T>C	ENST00000316902.7	-	1	745	c.20A>G	c.(19-21)cAc>cGc	p.H7R	SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R|C14orf164_ENST00000399910.1_5'Flank	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	7					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTTGTTTCGGTGCCTGGCTCC	0.537																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(19-21)cAc>cGc		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						140.0	150.0	147.0					14																	23652104		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23652104T>C	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.20A>G	14.37:g.23652104T>C	ENSP00000320378:p.His7Arg		Somatic				SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	p.H7R	NM_012244.3	NP_036376.2	WXS	Illumina GAIIx	Phase_I	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	1	745	-	all_cancers(95;4.6e-05)		7					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.20A>G	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486217	0.26686	.	.	ENSG00000092068	ENST00000316902;ENST00000469263;ENST00000524758;ENST00000525062	D;D;D;D	0.93906	-2.56;-2.89;-2.69;-3.31	5.58	5.58	0.84498	.	1.742010	0.02748	N	0.117153	D	0.86389	0.5921	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65471	-0.6160	10	0.15066	T	0.55	.	9.0661	0.36465	0.1637:0.0:0.0:0.8362	.	7;7	E9PLV9;Q9UHI5	.;LAT2_HUMAN	R	7	ENSP00000320378:H7R;ENSP00000435114:H7R;ENSP00000434352:H7R;ENSP00000436665:H7R	ENSP00000320378:H7R	H	-	2	0	SLC7A8	22721944	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.031000	0.41117	2.118000	0.64928	0.459000	0.35465	CAC		0.537	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			6	186	6	186	---	---	---	---
SLC16A13	201232	broad.mit.edu	37	17	6941915	6941915	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:6941915T>A	ENST00000308027.6	+	3	1096	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	263						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTCTGACCTCGTGGGGCGT	0.587																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(787-789)cTc>cAc		solute carrier family 16, member 13							120.0	109.0	113.0					17																	6941915		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941915T>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.788T>A	17.37:g.6941915T>A	ENSP00000309751:p.Leu263His		Somatic					p.L263H	NM_201566.2	NP_963860.1	WXS	Illumina GAIIx	Phase_I	Q7RTY0	MOT13_HUMAN			3	1096	+			263					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.788T>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852844	0.71719	.	.	ENSG00000174327	ENST00000308027	T	0.61274	0.12	5.59	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.376195	0.26761	N	0.022628	T	0.72342	0.3448	M	0.76170	2.325	0.36717	D	0.880962	D	0.76494	0.999	D	0.74674	0.984	T	0.76833	-0.2813	10	0.51188	T	0.08	.	9.9076	0.41386	0.0:0.0812:0.0:0.9188	.	263	Q7RTY0	MOT13_HUMAN	H	263	ENSP00000309751:L263H	ENSP00000309751:L263H	L	+	2	0	SLC16A13	6882639	0.958000	0.32768	0.956000	0.39512	0.980000	0.70556	2.465000	0.45075	0.942000	0.37525	0.455000	0.32223	CTC		0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			12	123	12	123	---	---	---	---
ZNF146	7705	broad.mit.edu	37	19	36728180	36728180	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:36728180A>T	ENST00000443387.2	+	4	1830	c.838A>T	c.(838-840)Aag>Tag	p.K280*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Nonsense_Mutation_p.K280*	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	280	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTTCAGCCAGAAGTCACACCA	0.413																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(838-840)Aag>Tag		zinc finger protein 146							63.0	58.0	60.0					19																	36728180		2203	4300	6503	SO:0001587	stop_gained	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36728180A>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.838A>T	19.37:g.36728180A>T	ENSP00000392095:p.Lys280*		Somatic				ZNF146_ENST00000443387.2_Nonsense_Mutation_p.K280*|ZNF565_ENST00000355114.5_Intron	p.K280*	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	WXS	Illumina GAIIx	Phase_I	Q15072	OZF_HUMAN			3	2287	+	Esophageal squamous(110;0.162)		280			Interaction with TERF2IP.		Q2TB94	Nonsense_Mutation	SNP	ENST00000443387.2	37	c.838A>T	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	A	48	14.576353	0.99801	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.48	4.48	0.54585	.	0.000000	0.42053	D	0.000779	.	.	.	.	.	.	0.37684	D	0.923604	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-10.969	8.5933	0.33701	0.9088:0.0:0.0911:0.0	.	.	.	.	X	280	.	ENSP00000392095:K280X	K	+	1	0	ZNF146	41420020	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	1.706000	0.37878	2.242000	0.73789	0.459000	0.35465	AAG		0.413	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		5	44	5	44	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131212858	131212858	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chrX:131212858G>T	ENST00000298542.4	-	12	1362	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	396					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTCTGGTTTGGAatgctccag	0.478																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1186-1188)tCc>tAc		FERM domain containing 7							184.0	163.0	170.0					X																	131212858		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212858G>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1187C>A	X.37:g.131212858G>T	ENSP00000298542:p.Ser396Tyr		Somatic				FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y	p.S396Y	NM_194277.2	NP_919253.1	WXS	Illumina GAIIx	Phase_I	Q6ZUT3	FRMD7_HUMAN			12	1362	-	Acute lymphoblastic leukemia(192;0.000127)		396					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1187C>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581116	0.28180	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.89343	-2.5;-2.12;-2.22	5.83	5.83	0.93111	.	0.081565	0.52532	D	0.000067	D	0.92606	0.7651	M	0.69823	2.125	0.30639	N	0.756654	D;D	0.64830	0.994;0.99	P;P	0.60682	0.878;0.825	D	0.91378	0.5125	10	0.54805	T	0.06	.	13.2594	0.60097	0.0793:0.0:0.9207:0.0	.	381;396	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Y	276;396;381	ENSP00000359916:S276Y;ENSP00000298542:S396Y;ENSP00000417996:S381Y	ENSP00000298542:S396Y	S	-	2	0	FRMD7	131040539	1.000000	0.71417	0.880000	0.34516	0.066000	0.16364	5.255000	0.65462	2.460000	0.83146	0.600000	0.82982	TCC		0.478	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		40	100	40	100	---	---	---	---
HIST1H2BG	8339	broad.mit.edu	37	6	26216686	26216706	+	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	GATGCCCATGGCCTTGGATGA	-	rs140919872|rs372917727|rs200965546	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	ENST00000244601.3	-	1	166_186	c.166_186delTCATCCAAGGCCATGGGCATC	c.(166-186)tcatccaaggccatgggcatcdel	p.SSKAMGI56del	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	56					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGGAATTCATGATGCCCATGGCCTTGGATGAGATGCCAGTA	0.538																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(166-186)tcatccaaggccatgggcatcdel		histone cluster 1, H2bg																																				SO:0001651	inframe_deletion	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.166_186delTCATCCAAGGCCATGGGCATC	6.37:g.26216686_26216706delGATGCCCATGGCCTTGGATGA	ENSP00000244601:p.Ser56_Ile62del		Somatic					p.SSKAMGI56del	NM_003518.3	NP_003509.1	WXS	Illumina GAIIx	Phase_I	P62807	H2B1C_HUMAN			1	166_186	-		all_hematologic(11;0.196)	56					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000244601.3	37	c.166_186delTCATCCAAGGCCATGGGCATC	CCDS4594.1																																																																																				0.538	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		12	228	12	228	---	---	---	---
PCID2	55795	broad.mit.edu	37	13	113854766	113854766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:113854766delG	ENST00000337344.4	-	2	177	c.101delC	c.(100-102)cctfs	p.P34fs	PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375457.2_Frame_Shift_Del_p.P32fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	34					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGCAACATGAGGATGTTTAAA	0.443																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(94-96)cctfs		PCI domain containing 2							117.0	117.0	117.0					13																	113854766		2203	4300	6503	SO:0001589	frameshift_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854766delG	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.101delC	13.37:g.113854766delG	ENSP00000337405:p.Pro34fs		Somatic				PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000337344.4_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs	p.P32fs	NM_001258213.1	NP_001245142.1	WXS	Illumina GAIIx	Phase_I	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	691	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	34					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Frame_Shift_Del	DEL	ENST00000337344.4	37	c.95delC	CCDS9532.2																																																																																				0.443	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		35	93	35	93	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24619808	24619809	+	Splice_Site	INS	-	-	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:24619808_24619809insG	ENST00000324103.6	+	8	1519_1520	c.1199_1200insG	c.(1198-1203)cagggg>caGgggg	p.QG400fs	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Splice_Site_p.QG249fs|RNF31_ENST00000559275.1_Splice_Site_p.QG249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTTCCCAGCAGGGGGATGCTT	0.52																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1198-1203)cagggg>caGgggg		ring finger protein 31																																				SO:0001630	splice_region_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619808_24619809insG	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1198-1->G	14.37:g.24619813_24619813dupG			Somatic				RNF31_ENST00000559275.1_Splice_Site_p.QG249fs|RNF31_ENST00000382687.3_Splice_Site_p.QG249fs	p.QG400fs	NM_017999.4	NP_060469.4	WXS	Illumina GAIIx	Phase_I	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1519_1520	+			400			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Splice_Site	INS	ENST00000324103.6	37	c.1199_1200insG	CCDS41931.1																																																																																				0.520	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	Frame_Shift_Ins	51	382	51	382	---	---	---	---
