#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1		NA																	0					NA																																														0							g.chr1:700532delT																													1.37:g.700532delT		True	False		Somatic	2						NR_033908.1		WXS	Illumina HiSeq	Phase_I					0	1021	-			NA						RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1	0			1:700532
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
PUS3	83480	broad.mit.edu	37	11	125763815	125763816	+	Frame_Shift_Ins	INS	-	-	TCAA			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:125763815_125763816insTCAA	ENST00000530811.1	-	3	1355_1356	c.1310_1311insTTGA	c.(1309-1311)gagfs	p.E437fs	HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Frame_Shift_Ins_p.E437fs|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	437					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AATGTGGGTGCTCAATTCGTCC	0.465																																						ENST00000530811.1		NA																	0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(1309-1311)gagfs		pseudouridylate synthase 3																																				SO:0001589	frameshift_variant	83480					nucleus	RNA binding	g.chr11:125763815_125763816insTCAA	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.1307_1310dupTTGA	11.37:g.125763816_125763819dupTCAA	ENSP00000432386:p.Glu437fs	False	False		Somatic	1				HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Frame_Shift_Ins_p.E437fs	p.E437fs			WXS	Illumina HiSeq	Phase_I	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	1355_1356	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	437					B2RAM0|Q96D17|Q96J23|Q96NB4	Frame_Shift_Ins	INS	ENST00000530811.1	37	c.1310_1311insTTGA	CCDS8466.1																																																																																				0.465	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	0	NM_031307		11:125763815
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
PRPF40B	25766	broad.mit.edu	37	12	50025192	50025200	+	In_Frame_Del	DEL	TCCAGGGAT	TCCAGGGAT	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	TCCAGGGAT	TCCAGGGAT	-	-	TCCAGGGAT	TCCAGGGAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:50025192_50025200delTCCAGGGAT	ENST00000380281.1	+	2	91_99	c.27_35delTCCAGGGAT	c.(25-36)cctccagggatc>ccc	p.PGI10del	PRPF40B_ENST00000261897.1_In_Frame_Del_p.PGI4del|PRPF40B_ENST00000548825.2_In_Frame_Del_p.PGI32del			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	10	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGATGCCCCCTCCAGGGATCCCCCCACCC	0.584																																						ENST00000261897.1		NA																	0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(7-18)cctccagggatc>ccc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)																																				SO:0001651	inframe_deletion	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025192_50025200delTCCAGGGAT	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.27_35delTCCAGGGAT	12.37:g.50025192_50025200delTCCAGGGAT	ENSP00000369634:p.Pro10_Ile12del	True	False		Somatic	1				PRPF40B_ENST00000380281.1_In_Frame_Del_p.PGI10del|PRPF40B_ENST00000548825.2_In_Frame_Del_p.PGI32del	p.PGI4del			WXS	Illumina HiSeq	Phase_I	Q6NWY9	PR40B_HUMAN			2	560_568	+			10			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	In_Frame_Del	DEL	ENST00000380281.1	37	c.9_17delTCCAGGGAT																																																																																					0.584	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	0	NM_012272		12:50025192
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
HNF1B	6928	broad.mit.edu	37	17	36070591	36070597	+	Frame_Shift_Del	DEL	TCACCAT	TCACCAT	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	TCACCAT	TCACCAT	-	-	TCACCAT	TCACCAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:36070591_36070597delTCACCAT	ENST00000225893.4	-	5	1481_1487	c.1120_1126delATGGTGA	c.(1120-1128)atggtgaccfs	p.MVT374fs	HNF1B_ENST00000561193.1_Frame_Shift_Del_p.MVT348fs|HNF1B_ENST00000427275.2_Frame_Shift_Del_p.MVT348fs|HNF1B_ENST00000560016.1_Frame_Shift_Del_p.MVT374fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	374					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GACTGGCTGGTCACCATGGCGCTGTTG	0.536																																					Colon(71;102 1179 9001 27917 43397)	ENST00000560016.1		NA																	0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1120-1128)atggtgaccfs		HNF1 homeobox B																																				SO:0001589	frameshift_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36070591_36070597delTCACCAT	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1120_1126delATGGTGA	17.37:g.36070591_36070597delTCACCAT	ENSP00000225893:p.Met374fs	False	False		Somatic	1				HNF1B_ENST00000225893.4_Frame_Shift_Del_p.MVT374fs|HNF1B_ENST00000427275.2_Frame_Shift_Del_p.MVT348fs|HNF1B_ENST00000561193.1_Frame_Shift_Del_p.MVT348fs	p.MVT374fs			WXS	Illumina HiSeq	Phase_I	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1253_1259	-		Breast(25;0.00765)|Ovarian(249;0.15)	374					B4DKM3|E0YMJ9	Frame_Shift_Del	DEL	ENST00000225893.4	37	c.1120_1126delATGGTGA	CCDS11324.1																																																																																				0.536	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	0	NM_000458		17:36070591
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71																																						ENST00000254325.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc		regulatory factor X, 1 (influences HLA class II expression)																																				SO:0001651	inframe_deletion	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	19.37:g.14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENSP00000254325:p.Gly386_Ser400del	False	False		Somatic	1					p.386_401GGGGGGGGGGGGGGSG>G	NM_002918.4	NP_002909.4	WXS	Illumina HiSeq	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1392_1436	-			386			Gly-rich.			In_Frame_Del	DEL	ENST00000254325.4	37	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	CCDS12301.1																																																																																				0.710	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	NM_002918		19:14083667
SLC4A7	9497	broad.mit.edu	37	3	27473146	27473151	+	In_Frame_Del	DEL	CTGAAA	CTGAAA	-	rs545171853|rs373634200	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CTGAAA	CTGAAA	-	-	CTGAAA	CTGAAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:27473146_27473151delCTGAAA	ENST00000295736.5	-	7	831_836	c.761_766delTTTCAG	c.(760-768)ctttcagcc>ccc	p.254_256LSA>P	SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000445684.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000440156.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000425128.2_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000454389.1_In_Frame_Del_p.263_265LSA>P|SLC4A7_ENST00000428386.1_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	254					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TGGCGGGAGGCTGAAAGGCCTTCCCC	0.388																																						ENST00000295736.5		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(760-768)ctttcagcc>ccc		solute carrier family 4, sodium bicarbonate cotransporter, member 7																																				SO:0001651	inframe_deletion	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27473146_27473151delCTGAAA	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.761_766delTTTCAG	3.37:g.27473146_27473151delCTGAAA	ENSP00000295736:p.Leu254_Ala256delinsPro	True	False		Somatic	1				SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000440156.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000445684.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000425128.2_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000454389.1_In_Frame_Del_p.263_265LSA>P	p.254_256LSA>P	NM_003615.4	NP_003606.3	WXS	Illumina HiSeq	Phase_I	Q9Y6M7	S4A7_HUMAN			7	831_836	-			254					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	In_Frame_Del	DEL	ENST00000295736.5	37	c.761_766delTTTCAG	CCDS33721.1																																																																																				0.388	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	0	NM_003615		3:27473146
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
ZNF181	339318	broad.mit.edu	37	19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:35232275T>C	ENST00000492450.1	+	4	1078	c.989T>C	c.(988-990)tTt>tCt	p.F330S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000392232.3_Missense_Mutation_p.F374S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398																																						ENST00000392232.3		NA																	1	Substitution - Missense(1)	p.F266S(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1120-1122)tTt>tCt		zinc finger protein 181							82.0	81.0	81.0					19																	35232275		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232275T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.989T>C	19.37:g.35232275T>C	ENSP00000420727:p.Phe330Ser	True	False		Somatic	0				ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S	p.F374S			WXS	Illumina HiSeq	Phase_I	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1289	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		330					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1121T>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295411	0.60086	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.47869	0.83;0.83;0.83	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70622	0.3245	M	0.90019	3.08	0.37232	D	0.905749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	9.7095	0.40236	0.0:0.0:0.0:1.0	.	329;330	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	S	374;329;330;329	ENSP00000376065:F374S;ENSP00000420727:F330S;ENSP00000419435:F329S	ENSP00000376065:F374S	F	+	2	0	ZNF181	39924115	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.786000	0.75094	1.604000	0.50143	0.459000	0.35465	TTT		0.398	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	0	NM_001029997		19:35232275
RASGRF1	5923	broad.mit.edu	37	15	79323771	79323771	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:79323771G>A	ENST00000419573.3	-	8	1507	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y411Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	411	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGACTTGGCGTAGTCCAGGC	0.637																																						ENST00000419573.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1231-1233)taC>taT		Ras protein-specific guanine nucleotide-releasing factor 1							92.0	71.0	78.0					15																	79323771		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79323771G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1233C>T	15.37:g.79323771G>A		False	False		Somatic	0				RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y411Y	p.Y411Y	NM_002891.4	NP_002882.3	WXS	Illumina HiSeq	Phase_I	Q13972	RGRF1_HUMAN			8	1507	-			411			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1233C>T	CCDS10309.1																																																																																				0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	0	NM_002891		15:79323771
DMD	1756	broad.mit.edu	37	X	32486730	32486730	+	Missense_Mutation	SNP	C	C	T	rs139772014		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:32486730C>T	ENST00000357033.4	-	23	3253	c.3047G>A	c.(3046-3048)cGg>cAg	p.R1016Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1016					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGATATTTCCGGCTAATTTC	0.433																																						ENST00000357033.4		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(3046-3048)cGg>cAg		dystrophin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3833		0,0,0,1631,571	79.0	71.0	74.0		3023,3047,2678,3035,2678	-5.4	0.0	X	dbSNP_134	74	2,6726		0,1,1,2427,1871	no	missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	43,43,43,43,43	0,1,1,4058,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	benign,benign,benign,benign,benign	1008/3678,1016/3686,893/3563,1012/3682,893/3563	32486730	2,10559	2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32486730C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3047G>A	X.37:g.32486730C>T	ENSP00000354923:p.Arg1016Gln	False	False		Somatic	0				DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q	p.R1016Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina HiSeq	Phase_I	P11532	DMD_HUMAN			23	3253	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1016					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3047G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	2.255	-0.370542	0.05069	0.0	2.97E-4	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.12	-5.38	0.02673	.	0.767750	0.10141	N	0.710788	T	0.21022	0.0506	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.31420	-0.9944	10	0.14252	T	0.57	.	17.6406	0.88135	0.0:0.1026:0.0:0.8974	.	1008;1016;1012	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Q	1008;1012;1016;1016;893	ENSP00000367948:R1012Q;ENSP00000354923:R1016Q	ENSP00000354923:R1016Q	R	-	2	0	DMD	32396651	0.282000	0.24268	0.000000	0.03702	0.004000	0.04260	0.582000	0.23834	-1.546000	0.01717	-0.276000	0.10085	CGG		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	NM_004006		X:32486730
SLC17A7	57030	broad.mit.edu	37	19	49935855	49935855	+	Silent	SNP	G	G	T	rs564881392		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:49935855G>T	ENST00000221485.3	-	9	1242	c.1071C>A	c.(1069-1071)atC>atA	p.I357I	SLC17A7_ENST00000600601.1_Silent_p.I290I|SLC17A7_ENST00000543531.1_Silent_p.I345I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	357					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCTGGCCGCCGATGGGCACGA	0.672																																						ENST00000221485.3		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1069-1071)atC>atA		solute carrier family 17 (vesicular glutamate transporter), member 7							24.0	25.0	25.0					19																	49935855		2203	4299	6502	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49935855G>T	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1071C>A	19.37:g.49935855G>T		False	False		Somatic	0				SLC17A7_ENST00000600601.1_Silent_p.I290I|SLC17A7_ENST00000543531.1_Silent_p.I345I	p.I357I	NM_020309.3	NP_064705.1	WXS	Illumina HiSeq	Phase_I	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	9	1242	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	357					B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1071C>A	CCDS12764.1																																																																																				0.672	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2	0			19:49935855
TNFRSF1B	7133	broad.mit.edu	37	1	12251922	12251922	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:12251922G>T	ENST00000376259.3	+	4	488	c.399G>T	c.(397-399)ggG>ggT	p.G133G	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.G133G|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	133					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	AGCAGGAGGGGTGCCGGCTGT	0.692																																						ENST00000376259.3		NA																	0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(397-399)ggG>ggT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						24.0	25.0	25.0					1																	12251922		2202	4299	6501	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251922G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.399G>T	1.37:g.12251922G>T		True	False		Somatic	0				TNFRSF1B_ENST00000536782.1_Silent_p.G133G|TNFRSF1B_ENST00000492361.1_3'UTR	p.G133G	NM_001066.2	NP_001057.1	WXS	Illumina HiSeq	Phase_I	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	4	488	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	133					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.399G>T	CCDS145.1																																																																																				0.692	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	0	NM_001066		1:12251922
ZNF420	147923	broad.mit.edu	37	19	37618172	37618172	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:37618172A>C	ENST00000337995.3	+	5	494	c.279A>C	c.(277-279)aaA>aaC	p.K93N	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAGCCAAAGGCAAGATGG	0.368																																						ENST00000337995.3		NA																	0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(277-279)aaA>aaC		zinc finger protein 420							90.0	90.0	90.0					19																	37618172		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618172A>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.279A>C	19.37:g.37618172A>C	ENSP00000338770:p.Lys93Asn	True	False		Somatic	0				ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|ZNF585A_ENST00000588723.1_Intron	p.K93N	NM_144689.3	NP_653290.2	WXS	Illumina HiSeq	Phase_I	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	494	+			93					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.279A>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.743139	0.00675	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.07327	3.2;3.36	2.82	-0.616	0.11583	.	.	.	.	.	T	0.03390	0.0098	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43637	-0.9379	9	0.33940	T	0.23	.	0.4456	0.00493	0.4223:0.2249:0.1343:0.2184	.	93	Q8TAQ5	ZN420_HUMAN	N	93	ENSP00000306102:K93N;ENSP00000338770:K93N	ENSP00000306102:K93N	K	+	3	2	ZNF420	42310012	.	.	0.002000	0.10522	0.012000	0.07955	.	.	-0.232000	0.09811	-0.496000	0.04628	AAA		0.368	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	0	NM_144689		19:37618172
DYNC2H1	79659	broad.mit.edu	37	11	103057008	103057008	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:103057008A>T	ENST00000375735.2	+	42	6815	c.6671A>T	c.(6670-6672)cAc>cTc	p.H2224L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2224					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)		CCAGACTTTCACAAACCTATG	0.393																																						ENST00000375735.2		NA																	0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(6670-6672)cAc>cTc		dynein, cytoplasmic 2, heavy chain 1							75.0	66.0	69.0					11																	103057008		1827	4087	5914	SO:0001583	missense	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.chr11:103057008A>T	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.6671A>T	11.37:g.103057008A>T	ENSP00000364887:p.His2224Leu	False	False		Somatic	0				DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L	p.H2224L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	WXS	Illumina HiSeq	Phase_I	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	42	6815	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2224					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6671A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.821861	0.32237	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26660	1.72;1.72	5.61	5.61	0.85477	.	.	.	.	.	T	0.21921	0.0528	L	0.44542	1.39	0.30300	N	0.789519	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.08351	-1.0726	9	0.41790	T	0.15	.	7.9822	0.30190	0.8427:0.0:0.1573:0.0	.	2224;2224	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	2224	ENSP00000364887:H2224L;ENSP00000381167:H2224L	ENSP00000364887:H2224L	H	+	2	0	DYNC2H1	102562218	0.999000	0.42202	0.999000	0.59377	0.965000	0.64279	3.816000	0.55658	2.127000	0.65507	0.454000	0.30748	CAC		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	0	XM_370652		11:103057008
HIST3H3	8290	broad.mit.edu	37	1	228612733	228612733	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228612733C>A	ENST00000366696.1	-	1	293	c.294G>T	c.(292-294)gaG>gaT	p.E98D		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	98					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CCAGGTAAGACTCGCACGCCT	0.602																																						ENST00000366696.1		NA																	0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(292-294)gaG>gaT		histone cluster 3, H3							96.0	87.0	90.0					1																	228612733		2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612733C>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.294G>T	1.37:g.228612733C>A	ENSP00000355657:p.Glu98Asp	False	False		Somatic	0					p.E98D	NM_003493.2	NP_003484.1	WXS	Illumina HiSeq	Phase_I	Q16695	H31T_HUMAN			1	293	-		Prostate(94;0.0724)	98					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.294G>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592525	0.28357	.	.	ENSG00000168148	ENST00000366696	T	0.78595	-1.19	3.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.40064	N	0.001184	D	0.91808	0.7408	H	0.99972	5.13	0.34984	D	0.754365	P	0.48911	0.917	P	0.53988	0.739	D	0.94532	0.7737	10	0.87932	D	0	.	10.0089	0.41975	0.0:0.8982:0.0:0.1017	.	98	Q16695	H31T_HUMAN	D	98	ENSP00000355657:E98D	ENSP00000355657:E98D	E	-	3	2	HIST3H3	226679356	1.000000	0.71417	0.975000	0.42487	0.005000	0.04900	2.261000	0.43276	1.202000	0.43218	-0.162000	0.13425	GAG		0.602	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	0	NM_003493		1:228612733
DHX36	170506	broad.mit.edu	37	3	154018452	154018452	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:154018452C>T	ENST00000496811.1	-	11	1472	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000544526.1_Missense_Mutation_p.M464I|DHX36_ENST00000308361.6_Missense_Mutation_p.M464I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	464					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CATCCTCCATCATTTCTATAA	0.313																																						ENST00000496811.1		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1390-1392)atG>atA		DEAH (Asp-Glu-Ala-His) box polypeptide 36							121.0	116.0	118.0					3																	154018452		2203	4298	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018452C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1392G>A	3.37:g.154018452C>T	ENSP00000417078:p.Met464Ile	False	False		Somatic	0				DHX36_ENST00000544526.1_Missense_Mutation_p.M464I|DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000308361.6_Missense_Mutation_p.M464I	p.M464I	NM_020865.2	NP_065916.2	WXS	Illumina HiSeq	Phase_I	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		11	1472	-			464					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1392G>A	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785057	0.31593	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.75	5.75	0.90469	.	0.149837	0.85682	D	0.000000	T	0.02533	0.0077	L	0.31526	0.94	0.40269	D	0.978263	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.008;0.004	T	0.58364	-0.7649	10	0.21014	T	0.42	.	15.0769	0.72084	0.1418:0.8582:0.0:0.0	.	464;464;464	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	I	464;464;464;464;378	ENSP00000417078:M464I;ENSP00000309296:M464I;ENSP00000444247:M464I;ENSP00000330113:M464I;ENSP00000419862:M378I	ENSP00000309296:M464I	M	-	3	0	DHX36	155501146	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.423000	0.52756	2.866000	0.98385	0.650000	0.86243	ATG		0.313	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	0	NM_020865		3:154018452
KRT18P55	284085	broad.mit.edu	37	17	26604393	26604393	+	RNA	SNP	A	A	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:26604393A>G	ENST00000577198.1	-	0	568				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		AGAGGACAGGACTCAGGTTTT	0.458																																						ENST00000577198.1		NA																	0					NA															56.0	56.0	56.0					17																	26604393		1952	4152	6104			0							g.chr17:26604393A>G			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26604393A>G		True	False		Somatic	0						NR_028334.1		WXS	Illumina HiSeq	Phase_I					0	568	-			NA						RNA	SNP	ENST00000577198.1	37																																																																																						0.458	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	0	NR_028334		17:26604393
LHX6	26468	broad.mit.edu	37	9	124967022	124967022	+	3'UTR	SNP	C	C	T	rs374714258		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:124967022C>T	ENST00000373755.2	-	0	1217				LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000340587.3_Silent_p.P364P|LHX6_ENST00000464484.2_Silent_p.P22P|LHX6_ENST00000541397.2_Silent_p.P353P|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000373754.2_Silent_p.P335P	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						CGGGCAGATGCGGAAGTGCCG	0.682																																						ENST00000340587.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(5)	8						c.(1090-1092)ccG>ccA		LIM homeobox 6							28.0	31.0	30.0					9																	124967022		2203	4299	6502	SO:0001624	3_prime_UTR_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124967022C>T	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.*17G>A	9.37:g.124967022C>T		False	False		Somatic	0				LHX6_ENST00000373754.2_Silent_p.P335P|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000541397.2_Silent_p.P353P|LHX6_ENST00000373755.2_3'UTR|LHX6_ENST00000464484.2_Silent_p.P22P|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000394319.4_3'UTR	p.P364P	NM_199160.3	NP_954629.2	WXS	Illumina HiSeq	Phase_I	Q9UPM6	LHX6_HUMAN			9	1292	-			0					A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	c.1092G>A	CCDS56583.1																																																																																				0.682	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	0	NM_014368		9:124967022
AMFR	267	broad.mit.edu	37	16	56423115	56423115	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:56423115G>C	ENST00000290649.5	-	9	1468	c.1258C>G	c.(1258-1260)Cac>Gac	p.H420D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	420					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAAGAAGTGATTGTGTTGG	0.423																																					Pancreas(2;144 323 39528)	ENST00000290649.5		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1258-1260)Cac>Gac		autocrine motility factor receptor, E3 ubiquitin protein ligase							155.0	145.0	148.0					16																	56423115		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56423115G>C	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1258C>G	16.37:g.56423115G>C	ENSP00000290649:p.His420Asp	False	False		Somatic	0					p.H420D	NM_001144.5	NP_001135.3	WXS	Illumina HiSeq	Phase_I	Q9UKV5	AMFR2_HUMAN			9	1468	-			420					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1258C>G	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738582	0.89573	.	.	ENSG00000159461	ENST00000290649	T	0.16897	2.31	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	M	0.77103	2.36	0.80722	D	1	D	0.59767	0.986	P	0.59487	0.858	T	0.21109	-1.0255	10	0.59425	D	0.04	-30.074	20.33	0.98713	0.0:0.0:1.0:0.0	.	420	Q9UKV5	AMFR2_HUMAN	D	420	ENSP00000290649:H420D	ENSP00000290649:H420D	H	-	1	0	AMFR	54980616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.810000	0.96702	0.585000	0.79938	CAC		0.423	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2	0			16:56423115
MKRN3	7681	broad.mit.edu	37	15	23811532	23811532	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:23811532G>A	ENST00000314520.3	+	1	1079	c.603G>A	c.(601-603)gcG>gcA	p.A201A	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	201					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAAGCTGGGCGGATGCCATTG	0.592																																						ENST00000314520.3		NA																	0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(601-603)gcG>gcA		makorin ring finger protein 3							39.0	45.0	43.0					15																	23811532		2202	4300	6502	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811532G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.603G>A	15.37:g.23811532G>A		False	False		Somatic	0				MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.A201A	NM_005664.3	NP_005655.1	WXS	Illumina HiSeq	Phase_I	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1079	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	201						Silent	SNP	ENST00000314520.3	37	c.603G>A	CCDS10013.1																																																																																				0.592	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	0	NM_005664		15:23811532
ZFHX4	79776	broad.mit.edu	37	8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458										HNSCC(33;0.089)																												ENST00000521891.2		NA																	2	Substitution - Missense(2)	p.R1983H(2)	lung(1)|pancreas(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5947-5949)cGt>cAt		zinc finger homeobox 4							53.0	53.0	53.0					8																	77765105		1889	4117	6006	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765105G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5948G>A	8.37:g.77765105G>A	ENSP00000430497:p.Arg1983His	False	False	HNSCC(33;0.089)	Somatic	0				ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	p.R1983H	NM_024721.4	NP_078997.4	WXS	Illumina HiSeq	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6396	+			1938			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5948G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423068	0.43020	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.78;0.74;0.74	4.2	4.2	0.49525	.	0.000000	0.44483	U	0.000460	T	0.49966	0.1588	M	0.62723	1.935	0.43271	D	0.995226	P;P;P	0.46020	0.796;0.871;0.871	B;B;B	0.42361	0.215;0.385;0.385	T	0.60747	-0.7202	10	0.66056	D	0.02	.	17.142	0.86756	0.0:0.0:1.0:0.0	.	1938;1938;1983	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1983;1983;1938;1938;1957	ENSP00000430497:R1983H;ENSP00000399605:R1938H;ENSP00000050961:R1938H;ENSP00000430848:R1957H	ENSP00000050961:R1938H	R	+	2	0	ZFHX4	77927660	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.860000	0.69546	2.365000	0.80145	0.539000	0.68188	CGT		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	NM_024721		8:77765105
GNAL	2774	broad.mit.edu	37	18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000269162.5_Missense_Mutation_p.G6D|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	6					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGTTTGGGCGGCAACAGCAAG	0.557																																						ENST00000423027.3		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(16-18)gGc>gAc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							96.0	97.0	97.0					18																	11752449		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752449G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.17G>A	18.37:g.11752449G>A	ENSP00000408489:p.Gly6Asp	False	False		Somatic	0				GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D	p.G6D			WXS	Illumina HiSeq	Phase_I	P38405	GNAL_HUMAN			1	338	+			6					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.17G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599844	0.87055	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88975	-2.45;-2.45;-2.45	4.04	4.04	0.47022	.	.	.	.	.	D	0.90783	0.7106	L	0.34521	1.04	0.34358	D	0.690637	D	0.57257	0.979	D	0.69654	0.965	D	0.93188	0.6580	9	0.59425	D	0.04	.	15.6287	0.76885	0.0:0.0:1.0:0.0	.	6	P38405	GNAL_HUMAN	D	6	ENSP00000439023:G6D;ENSP00000269162:G6D;ENSP00000408489:G6D	ENSP00000269162:G6D	G	+	2	0	GNAL	11742449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.928000	0.92853	2.542000	0.85734	0.491000	0.48974	GGC		0.557	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	0	NM_182978, NM_002071		18:11752449
NEB	4703	broad.mit.edu	37	2	152376273	152376273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:152376273G>A	ENST00000172853.10	-	126	17533	c.17386C>T	c.(17386-17388)Cga>Tga	p.R5796*	NEB_ENST00000397345.3_Nonsense_Mutation_p.R7497*|NEB_ENST00000427231.2_Nonsense_Mutation_p.R7497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*			P20929	NEBU_HUMAN	nebulin	5796					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATTTTCTCGGTATTTAACC	0.353																																						ENST00000397345.3		NA																	0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(22489-22491)Cga>Tga		nebulin							228.0	197.0	206.0					2																	152376273		1822	4074	5896	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152376273G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17386C>T	2.37:g.152376273G>A	ENSP00000172853:p.Arg5796*	False	False		Somatic	0				NEB_ENST00000172853.10_Nonsense_Mutation_p.R5796*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000427231.2_Nonsense_Mutation_p.R7497*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*	p.R7497*	NM_001164508.1	NP_001157980	WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	154	22691	-			5796					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.22489C>T		.	.	.	.	.	.	.	.	.	.	G	58	30.674372	0.99977	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	6.16	6.16	0.99307	.	0.109561	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.6708	0.62424	0.0:0.0:0.7491:0.2509	.	.	.	.	X	5796;7497;7497;1845;2227;5796	.	ENSP00000172853:R5796X	R	-	1	2	NEB	152084519	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.539000	0.53604	2.937000	0.99478	0.650000	0.86243	CGA		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543		2:152376273
CYP7A1	1581	broad.mit.edu	37	8	59404241	59404241	+	Silent	SNP	G	G	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:59404241G>C	ENST00000301645.3	-	6	1445	c.1308C>G	c.(1306-1308)ccC>ccG	p.P436P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	436					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCGATCCAAAGGGCATGTAGT	0.353									Neonatal Giant Cell Hepatitis																													ENST00000301645.3		NA																	0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1306-1308)ccC>ccG		cytochrome P450, family 7, subfamily A, polypeptide 1							116.0	125.0	122.0					8																	59404241		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404241G>C	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1308C>G	8.37:g.59404241G>C		True	False		Somatic	0					p.P436P	NM_000780.3	NP_000771.2	WXS	Illumina HiSeq	Phase_I	P22680	CP7A1_HUMAN			6	1445	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	436					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.1308C>G	CCDS6171.1																																																																																				0.353	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	0	NM_000780		8:59404241
IGF1R	3480	broad.mit.edu	37	15	99482481	99482481	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:99482481G>A	ENST00000268035.6	+	18	3960	c.3349G>A	c.(3349-3351)Gga>Aga	p.G1117R	IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCAGATGGCCGGAGAGATTGC	0.438																																						ENST00000268035.6		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3349-3351)Gga>Aga		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						132.0	125.0	127.0					15																	99482481		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99482481G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3349G>A	15.37:g.99482481G>A	ENSP00000268035:p.Gly1117Arg	True	False		Somatic	0				IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R	p.G1117R	NM_000875.3	NP_000866.1	WXS	Illumina HiSeq	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		18	3960	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1117			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3349G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261478	0.95368	.	.	ENSG00000140443	ENST00000268035	D	0.88201	-2.35	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	D	0.85146	0.5630	N	0.00742	-1.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.91434	0.5168	10	0.59425	D	0.04	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	1116;1117	C9J5X1;P08069	.;IGF1R_HUMAN	R	1117	ENSP00000268035:G1117R	ENSP00000268035:G1117R	G	+	1	0	IGF1R	97300004	1.000000	0.71417	0.240000	0.24138	0.986000	0.74619	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	GGA		0.438	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	0	NM_000875		15:99482481
MEF2D	4209	broad.mit.edu	37	1	156437921	156437921	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:156437921G>A	ENST00000348159.4	-	11	1898	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P465L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	473					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCCCGGCTGGGCTGCTGAG	0.706																																						ENST00000348159.4		NA																	0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(1417-1419)cCa>cTa		myocyte enhancer factor 2D							33.0	38.0	37.0					1																	156437921		2201	4296	6497	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156437921G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1418C>T	1.37:g.156437921G>A	ENSP00000271555:p.Pro473Leu	True	False		Somatic	0				MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P465L	p.P473L	NM_005920.2	NP_005911.1	WXS	Illumina HiSeq	Phase_I	Q14814	MEF2D_HUMAN			11	1898	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		473					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.1418C>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075854	0.55646	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.58652	0.32;0.33;0.33;0.72;0.33;0.32	3.83	3.83	0.44106	.	0.187490	0.42420	D	0.000707	T	0.27559	0.0677	N	0.08118	0	0.36720	D	0.881122	P;P;P	0.48911	0.917;0.791;0.867	B;B;P	0.47346	0.401;0.342;0.544	T	0.33240	-0.9876	10	0.66056	D	0.02	-9.2416	8.8543	0.35219	0.0:0.0:0.6507:0.3493	.	478;473;466	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	L	473;472;466;427;466;465	ENSP00000271555:P473L;ENSP00000343159:P472L;ENSP00000357223:P466L;ENSP00000344705:P427L;ENSP00000353803:P466L;ENSP00000388505:P465L	ENSP00000343159:P472L	P	-	2	0	MEF2D	154704545	0.999000	0.42202	0.899000	0.35326	0.845000	0.48019	2.975000	0.49281	1.979000	0.57680	0.313000	0.20887	CCA		0.706	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	0	NM_005920		1:156437921
MYH11	4629	broad.mit.edu	37	16	15841926	15841926	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:15841926C>T	ENST00000300036.5	-	17	2267	c.2158G>A	c.(2158-2160)Gtc>Atc	p.V720I	MYH11_ENST00000396324.3_Missense_Mutation_p.V727I|MYH11_ENST00000452625.2_Missense_Mutation_p.V727I|MYH11_ENST00000576790.2_Missense_Mutation_p.V720I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	720	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTGGAAGACGATCCGGTTG	0.647			T	CBFB	AML																																	ENST00000452625.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2179-2181)Gtc>Atc		myosin, heavy chain 11, smooth muscle							74.0	61.0	65.0					16																	15841926		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841926C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2158G>A	16.37:g.15841926C>T	ENSP00000300036:p.Val720Ile	False	False		Somatic	0				MYH11_ENST00000300036.5_Missense_Mutation_p.V720I|MYH11_ENST00000576790.2_Missense_Mutation_p.V720I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I	p.V727I	NM_001040113.1	NP_001035202.1	WXS	Illumina HiSeq	Phase_I	P35749	MYH11_HUMAN			18	2266	-			720			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2179G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410585	0.42715	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.147580	0.44902	D	0.000402	T	0.61110	0.2321	N	0.26162	0.8	0.80722	D	1	B;B;B;B;B	0.13594	0.008;0.008;0.001;0.008;0.001	B;B;B;B;B	0.17098	0.017;0.01;0.017;0.01;0.01	T	0.59532	-0.7437	10	0.54805	T	0.06	.	16.918	0.86156	0.0:1.0:0.0:0.0	.	727;720;727;720;727	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	720;720;727;727;727	ENSP00000300036:V720I;ENSP00000345136:V720I;ENSP00000379616:V727I;ENSP00000407821:V727I	ENSP00000300036:V720I	V	-	1	0	MYH11	15749427	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.955000	0.63638	2.224000	0.72417	0.561000	0.74099	GTC		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	0	NM_001040113		16:15841926
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4		NA																	2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A		False	False		Somatic	0					p.R122R	NM_177998.1	NP_819056.1	WXS	Illumina HiSeq	Phase_I	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	0	NM_177998		4:4228226
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
WDR70	55100	broad.mit.edu	37	5	37725121	37725121	+	Silent	SNP	G	G	A	rs373785223		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:37725121G>A	ENST00000265107.4	+	16	1839	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	561							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGAAGTCGCATAAACCTG	0.527																																						ENST00000265107.4		NA																	0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1681-1683)tcG>tcA		WD repeat domain 70		G		1,4405	2.1+/-5.4	0,1,2202	114.0	111.0	112.0		1683	-7.6	0.7	5		112	0,8600		0,0,4300	no	coding-synonymous	WDR70	NM_018034.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		561/655	37725121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37725121G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1683G>A	5.37:g.37725121G>A		False	False		Somatic	0					p.S561S	NM_018034.2	NP_060504.1	WXS	Illumina HiSeq	Phase_I	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1839	+	all_lung(31;0.000285)		561					Q9H053	Silent	SNP	ENST00000265107.4	37	c.1683G>A	CCDS34147.1																																																																																				0.527	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	0	NM_018034		5:37725121
PPP2R1B	5519	broad.mit.edu	37	11	111626165	111626165	+	Missense_Mutation	SNP	G	G	A	rs376765814	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:111626165G>A	ENST00000527614.1	-	6	762	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	233					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GCAAGGAGGCGCACTGAATCC	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		16535	0.002		0.0	False		,,,				2504	0.0					ENST00000527614.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(697-699)Cgc>Tgc		protein phosphatase 2, regulatory subunit A, beta		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	87.0	68.0	74.0		697,316,697,697,505	5.5	1.0	11		74	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense	PPP2R1B	NM_001177562.1,NM_001177563.1,NM_002716.4,NM_181699.2,NM_181700.1	180,180,180,180,180	0,3,6495	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	233/557,106/475,233/602,233/668,169/604	111626165	3,12993	2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111626165G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.697C>T	11.37:g.111626165G>A	ENSP00000437193:p.Arg233Cys	False	False		Somatic	0				PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C	p.R233C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	WXS	Illumina HiSeq	Phase_I	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	6	762	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	233					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.697C>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665575	0.88251	4.54E-4	1.16E-4	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;1.0;1.0;0.998;1.0	D	0.88083	0.2808	10	0.87932	D	0	-6.6676	16.8722	0.86043	0.0:0.0:1.0:0.0	.	106;233;72;169;233;233	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	C	233;106;169;233;72;233;106	ENSP00000311344:R233C;ENSP00000410671:R169C;ENSP00000437193:R233C;ENSP00000415759:R72C;ENSP00000343317:R233C;ENSP00000376775:R106C	ENSP00000311344:R233C	R	-	1	0	PPP2R1B	111131375	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.360000	0.79487	2.585000	0.87301	0.655000	0.94253	CGC		0.448	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	0	NM_002716		11:111626165
BAP1	8314	broad.mit.edu	37	3	52439281	52439281	+	Missense_Mutation	SNP	C	C	T	rs143891879		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:52439281C>T	ENST00000460680.1	-	11	1432	c.961G>A	c.(961-963)Gca>Aca	p.A321T	BAP1_ENST00000296288.5_Missense_Mutation_p.A303T	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGGCTTGTGCGCATGAACCA	0.597			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		NA		Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(961-963)Gca>Aca		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		C	THR/ALA	0,4406		0,0,2203	107.0	111.0	109.0		961	-1.8	0.8	3	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAP1	NM_004656.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	321/730	52439281	1,13005	2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439281C>T	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.961G>A	3.37:g.52439281C>T	ENSP00000417132:p.Ala321Thr	False	False		Somatic	0				BAP1_ENST00000296288.5_Missense_Mutation_p.A303T	p.A321T	NM_004656.2	NP_004647.1	WXS	Illumina HiSeq	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1432	-			321					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.961G>A	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956758	0.02267	0.0	1.16E-4	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.55234	0.53;0.53	5.7	-1.84	0.07809	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	1.030140	0.07617	N	0.926461	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	10	0.12430	T	0.62	0.0472	1.5128	0.02500	0.1854:0.2765:0.3343:0.2038	.	321	Q92560	BAP1_HUMAN	T	321;303	ENSP00000417132:A321T;ENSP00000296288:A303T	ENSP00000296288:A303T	A	-	1	0	BAP1	52414321	0.982000	0.34865	0.833000	0.33012	0.079000	0.17450	0.076000	0.14712	-0.819000	0.04323	-3.451000	0.00036	GCA		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	0			3:52439281
CGRRF1	10668	broad.mit.edu	37	14	55004518	55004518	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:55004518T>G	ENST00000216420.7	+	5	781	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	217					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATATTTACTCTTGGCTCAAGG	0.338																																						ENST00000216420.7		NA																	0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(649-651)Ttg>Gtg		cell growth regulator with ring finger domain 1							83.0	80.0	81.0					14																	55004518		2203	4295	6498	SO:0001583	missense	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:55004518T>G	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.649T>G	14.37:g.55004518T>G	ENSP00000216420:p.Leu217Val	False	False		Somatic	0				CGRRF1_ENST00000557512.1_3'UTR	p.L217V	NM_006568.2	NP_006559.1	WXS	Illumina HiSeq	Phase_I	Q99675	CGRF1_HUMAN			5	781	+			217					Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	c.649T>G	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458727	0.26248	.	.	ENSG00000100532	ENST00000216420	T	0.26810	1.71	5.97	3.04	0.35103	.	0.203895	0.42053	D	0.000762	T	0.17789	0.0427	L	0.60455	1.87	0.27023	N	0.964424	B;B	0.31383	0.018;0.321	B;B	0.20577	0.015;0.03	T	0.21415	-1.0246	10	0.15499	T	0.54	-2.8113	5.1776	0.15143	0.1238:0.6109:0.0:0.2653	.	217;217	B2RCX4;Q99675	.;CGRF1_HUMAN	V	217	ENSP00000216420:L217V	ENSP00000216420:L217V	L	+	1	2	CGRRF1	54074268	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.293000	0.43558	0.336000	0.23639	0.477000	0.44152	TTG		0.338	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	0	NM_006568		14:55004518
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5		NA																	2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu	False	False		Somatic	0					p.G487E	NM_001137671.1	NP_001131143.1	WXS	Illumina HiSeq	Phase_I	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	0	XM_496269		18:14513734
ZNF485	220992	broad.mit.edu	37	10	44104721	44104721	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:44104721C>A	ENST00000361807.3	+	4	364	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TCTTCCAAACCAAAACTAATT	0.468																																						ENST00000361807.3		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(169-171)cCa>cAa		zinc finger protein 485							48.0	46.0	47.0					10																	44104721		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104721C>A	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.170C>A	10.37:g.44104721C>A	ENSP00000354694:p.Pro57Gln	True	False		Somatic	0				ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q|ZNF485_ENST00000374437.2_Intron	p.P57Q	NM_145312.3	NP_660355.2	WXS	Illumina HiSeq	Phase_I	Q8NCK3	ZN485_HUMAN			4	364	+			57			KRAB.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.170C>A	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980972	0.34942	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.00986	5.47;5.47;5.47	3.04	2.11	0.27256	Krueppel-associated box (3);	.	.	.	.	T	0.01695	0.0054	M	0.76328	2.33	0.80722	D	1	B	0.31548	0.328	B	0.34138	0.176	T	0.53732	-0.8397	9	0.52906	T	0.07	.	7.8094	0.29221	0.0:0.8675:0.0:0.1325	.	57	Q8NCK3	ZN485_HUMAN	Q	57	ENSP00000354694:P57Q;ENSP00000393570:P57Q;ENSP00000363558:P57Q	ENSP00000354694:P57Q	P	+	2	0	ZNF485	43424727	0.395000	0.25254	0.629000	0.29254	0.510000	0.34073	0.455000	0.21843	0.599000	0.29845	0.455000	0.32223	CCA		0.468	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	0	NM_145312		10:44104721
TIAM2	26230	broad.mit.edu	37	6	155575617	155575617	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:155575617C>T	ENST00000461783.3	+	28	5651	c.4378C>T	c.(4378-4380)Cgt>Tgt	p.R1460C	TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1460	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAACTTCAGGCGTCACATAAA	0.458																																						ENST00000461783.3		NA																	0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4378-4380)Cgt>Tgt		T-cell lymphoma invasion and metastasis 2							150.0	132.0	138.0					6																	155575617		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155575617C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4378C>T	6.37:g.155575617C>T	ENSP00000437188:p.Arg1460Cys	False	False		Somatic	0				TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|RP11-477D19.2_ENST00000435295.1_RNA	p.R1460C			WXS	Illumina HiSeq	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	28	5651	+		Ovarian(120;0.196)	1460			PH 2.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4378C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400918	0.83120	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.13778	3.1;2.94;3.1;2.91;3.04;2.94;2.92;2.69;2.56	5.66	4.77	0.60923	.	0.051437	0.85682	D	0.000000	T	0.25382	0.0617	M	0.66939	2.045	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.994	T	0.03077	-1.1075	10	0.72032	D	0.01	.	14.0455	0.64702	0.151:0.849:0.0:0.0	.	796;1489;1484;1460	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	C	1460;1706;1489;1460;836;1484;1489;772;796;385	ENSP00000437188:R1460C;ENSP00000407746:R1489C;ENSP00000327315:R1460C;ENSP00000356142:R836C;ENSP00000353528:R1484C;ENSP00000433348:R1489C;ENSP00000407183:R772C;ENSP00000435335:R796C;ENSP00000275246:R385C	ENSP00000275246:R385C	R	+	1	0	TIAM2	155617309	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.413000	0.59795	1.342000	0.45619	0.650000	0.86243	CGT		0.458	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	NM_012454		6:155575617
QSER1	79832	broad.mit.edu	37	11	32956817	32956817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:32956817G>A	ENST00000399302.2	+	4	3961	c.3626G>A	c.(3625-3627)gGt>gAt	p.G1209D	QSER1_ENST00000527788.1_Missense_Mutation_p.G970D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1209										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAAACTGGCGGTAACAGTCCA	0.423																																						ENST00000399302.2		NA																	0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3625-3627)gGt>gAt		glutamine and serine rich 1							121.0	119.0	120.0					11																	32956817		1868	4102	5970	SO:0001583	missense	79832							g.chr11:32956817G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3626G>A	11.37:g.32956817G>A	ENSP00000382241:p.Gly1209Asp	False	False		Somatic	0				QSER1_ENST00000527788.1_Missense_Mutation_p.G970D	p.G1209D	NM_001076786.1	NP_001070254.1	WXS	Illumina HiSeq	Phase_I	Q2KHR3	QSER1_HUMAN			4	3961	+	Breast(20;0.158)		1209					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3626G>A	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.800|1.800	-0.477377|-0.477377	0.04414|0.04414	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.25912|.	2.1;1.77|.	5.31|5.31	-3.69|-3.69	0.04450|0.04450	.|.	1.567240|.	0.03777|.	N|.	0.260673|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B;B|.	0.14438|.	0.01;0.007;0.0|.	B;B;B|.	0.16722|.	0.016;0.005;0.001|.	T|T	0.35992|0.35992	-0.9766|-0.9766	10|5	0.51188|.	T|.	0.08|.	.|.	1.3943|1.3943	0.02257|0.02257	0.192:0.2993:0.2876:0.2211|0.192:0.2993:0.2876:0.2211	.|.	970;970;1209|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	D|I	1209;970;970|230	ENSP00000382241:G1209D;ENSP00000432766:G970D|.	ENSP00000078652:G970D|.	G|V	+|+	2|1	0|0	QSER1|QSER1	32913393|32913393	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.313000|-0.313000	0.08103|0.08103	-0.633000|-0.633000	0.05545|0.05545	0.467000|0.467000	0.42956|0.42956	GGT|GTA		0.423	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	0	NM_024774		11:32956817
XKR4	114786	broad.mit.edu	37	8	56015735	56015735	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:56015735C>A	ENST00000327381.6	+	1	787	c.687C>A	c.(685-687)agC>agA	p.S229R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	229						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGGCCAACAGCGGCAGCAACA	0.647																																						ENST00000327381.6		NA																	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(685-687)agC>agA		XK, Kell blood group complex subunit-related family, member 4							40.0	43.0	42.0					8																	56015735		2202	4297	6499	SO:0001583	missense	114786					integral to membrane		g.chr8:56015735C>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.687C>A	8.37:g.56015735C>A	ENSP00000328326:p.Ser229Arg	False	False		Somatic	0					p.S229R	NM_052898.1	NP_443130.1	WXS	Illumina HiSeq	Phase_I	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	787	+			NA					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.687C>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146600	0.21288	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82984	-1.67	4.54	1.58	0.23477	.	0.630387	0.15645	N	0.251674	T	0.69522	0.3120	N	0.22421	0.69	0.26813	N	0.968955	B	0.27286	0.174	B	0.31751	0.135	T	0.53753	-0.8394	10	0.12103	T	0.63	-2.5041	9.169	0.37069	0.0:0.8629:0.0:0.1371	.	229	Q5GH76	XKR4_HUMAN	R	229	ENSP00000328326:S229R	ENSP00000328326:S229R	S	+	3	2	XKR4	56178289	0.971000	0.33674	0.997000	0.53966	0.916000	0.54674	0.523000	0.22925	0.117000	0.18138	0.555000	0.69702	AGC		0.647	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	0	NM_052898		8:56015735
ASPA	443	broad.mit.edu	37	17	3397713	3397713	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:3397713A>G	ENST00000263080.2	+	5	862	c.704A>G	c.(703-705)gAa>gGa	p.E235G	ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	235					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CCCCGGGATGAAAATGGAGAA	0.343																																						ENST00000263080.2		NA																	0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(703-705)gAa>gGa		aspartoacylase	L-Aspartic Acid(DB00128)						172.0	191.0	185.0					17																	3397713		2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3397713A>G	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.704A>G	17.37:g.3397713A>G	ENSP00000263080:p.Glu235Gly	True	False		Somatic	0				ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron	p.E235G	NM_000049.2	NP_000040.1	WXS	Illumina HiSeq	Phase_I	P45381	ACY2_HUMAN			5	862	+			235						Missense_Mutation	SNP	ENST00000263080.2	37	c.704A>G	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	a	13.26	2.183230	0.38511	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97850	-4.57;-4.57	5.72	3.44	0.39384	.	0.570209	0.20924	N	0.083222	D	0.94434	0.8209	L	0.43646	1.37	0.80722	D	1	B	0.17465	0.022	B	0.15484	0.013	D	0.89317	0.3637	10	0.38643	T	0.18	-6.3778	6.8856	0.24197	0.7727:0.1508:0.0765:0.0	.	235	P45381	ACY2_HUMAN	G	235	ENSP00000409976:E235G;ENSP00000263080:E235G	ENSP00000263080:E235G	E	+	2	0	ASPA	3344463	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	1.983000	0.40648	0.493000	0.27837	0.528000	0.53228	GAA		0.343	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	0	NM_000049		17:3397713
OR9A4	130075	broad.mit.edu	37	7	141618819	141618819	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:141618819C>T	ENST00000548136.1	+	1	203	c.144C>T	c.(142-144)gtC>gtT	p.V48V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCATGATTGTCTGTGTGGATA	0.453																																						ENST00000548136.1		NA																	0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(142-144)gtC>gtT		olfactory receptor, family 9, subfamily A, member 4							186.0	192.0	190.0					7																	141618819		2203	4300	6503	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618819C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.144C>T	7.37:g.141618819C>T		True	False		Somatic	0				MGAM_ENST00000497554.1_Intron	p.V48V	NM_001001656.1	NP_001001656.1	WXS	Illumina HiSeq	Phase_I	Q8NGU2	OR9A4_HUMAN			1	203	+	Melanoma(164;0.0171)		48					B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.144C>T	CCDS43661.1																																																																																				0.453	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	0	NM_001001656		7:141618819
DCDC1	341019	broad.mit.edu	37	11	30926703	30926703	+	Missense_Mutation	SNP	C	C	A	rs553034789		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:30926703C>A	ENST00000597505.1	-	29	4112	c.4113G>T	c.(4111-4113)ttG>ttT	p.L1371F	DCDC1_ENST00000339794.5_Missense_Mutation_p.L450F|DCDC1_ENST00000406071.2_Missense_Mutation_p.L106F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTCACACGACAAATCAACCt	0.363																																						ENST00000597505.1		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4111-4113)ttG>ttT		doublecortin domain containing 1							64.0	60.0	61.0					11																	30926703		2199	4298	6497	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30926703C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4113G>T	11.37:g.30926703C>A	ENSP00000472625:p.Leu1371Phe	True	False		Somatic	0				DCDC1_ENST00000406071.2_Missense_Mutation_p.L106F|DCDC1_ENST00000339794.5_Missense_Mutation_p.L450F	p.L1371F			WXS	Illumina HiSeq	Phase_I	P59894	DCDC1_HUMAN			29	4112	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.4113G>T		.	.	.	.	.	.	.	.	.	.	C	12.70	2.016517	0.35606	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.31	4.12	0.48240	.	0.000000	0.43110	D	0.000601	T	0.63733	0.2536	M	0.71581	2.175	0.26273	N	0.978396	D	0.89917	1.0	D	0.83275	0.996	T	0.56171	-0.8023	8	.	.	.	-8.0964	8.7935	0.34866	0.0:0.0887:0.0:0.9113	.	450	Q6ZRR9	DCDC5_HUMAN	F	106;450	.	.	L	-	3	2	DCDC5	30883279	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	1.008000	0.29872	0.844000	0.35094	-0.290000	0.09829	TTG		0.363	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	NM_181807		11:30926703
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	rs377381152		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	109.0	113.0		607,607,607	2.1	0.0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr	False	False		Somatic	0				IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	p.A203T	NM_203395.2	NP_981932.1	WXS	Illumina HiSeq	Phase_I	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	NM_203395		6:150715311
NLRP9	338321	broad.mit.edu	37	19	56244180	56244180	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:56244180C>T	ENST00000332836.2	-	2	1044	c.1017G>A	c.(1015-1017)acG>acA	p.T339T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCAACCAGCACGTAAAGGGAT	0.413																																						ENST00000332836.2		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1015-1017)acG>acA		NLR family, pyrin domain containing 9							104.0	99.0	101.0					19																	56244180		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244180C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1017G>A	19.37:g.56244180C>T		False	False		Somatic	0					p.T339T	NM_176820.2	NP_789790.2	WXS	Illumina HiSeq	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1044	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	339			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.1017G>A	CCDS12934.1																																																																																				0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	0	NM_176820		19:56244180
XIST	7503	broad.mit.edu	37	X	73065231	73065231	+	lincRNA	SNP	T	T	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:73065231T>C	ENST00000429829.1	-	0	7357					NR_001564.2				X inactive specific transcript (non-protein coding)																		TGTGCAGTTATGCACATTCAT	0.498																																						ENST00000429829.1		NA																	0					NA															225.0	197.0	206.0					X																	73065231		876	1991	2867			0							g.chrX:73065231T>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065231T>C		False	False		Somatic	0						NR_001564.2		WXS	Illumina HiSeq	Phase_I					0	7357	-			NA						RNA	SNP	ENST00000429829.1	37																																																																																						0.498	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	0	NR_001564		X:73065231
TTN	7273	broad.mit.edu	37	2	179436797	179436797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:179436797G>A	ENST00000591111.1	-	276	69363	c.69139C>T	c.(69139-69141)Cgt>Tgt	p.R23047C	TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24688C|TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23047	Fibronectin type-III 67. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GCTGAAACACGGAAAGAGTAT	0.478																																						ENST00000589042.1		NA																	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.(74062-74064)Cgt>Tgt		titin							76.0	70.0	72.0					2																	179436797		1970	4161	6131	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436797G>A	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.69139C>T	2.37:g.179436797G>A	ENSP00000465570:p.Arg23047Cys	False	False		Somatic	0				TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN_ENST00000591111.1_Missense_Mutation_p.R23047C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.R24688C	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	74286	-			23047			Fibronectin type-III 79.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.74062C>T		.	.	.	.	.	.	.	.	.	.	G	11.78	1.740484	0.30865	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.07	5.18	0.71444	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82986	0.5156	H	0.94306	3.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88470	0.3061	9	0.87932	D	0	.	16.9885	0.86347	0.0:0.0:0.8717:0.1283	.	15623;15748;15815;23047	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22120;15623;15815;15748;15621	ENSP00000343764:R22120C;ENSP00000434586:R15623C;ENSP00000340554:R15815C;ENSP00000352154:R15748C	ENSP00000340554:R15815C	R	-	1	0	TTN	179145043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.586000	0.67503	1.556000	0.49512	0.650000	0.86243	CGT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179436797
C10orf90	118611	broad.mit.edu	37	10	128193207	128193207	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:128193207G>A	ENST00000284694.7	-	3	682	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.R285W|C10orf90_ENST00000392694.1_Missense_Mutation_p.R141W|C10orf90_ENST00000356858.3_Missense_Mutation_p.R141W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R188W	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	188	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGATGCCGACCTGGATGG	0.627											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(562-564)Cgg>Tgg		chromosome 10 open reading frame 90							57.0	64.0	61.0					10																	128193207		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193207G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.562C>T	10.37:g.128193207G>A	ENSP00000284694:p.Arg188Trp	False	False		Somatic	0	OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000454341.1_Missense_Mutation_p.R188W|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R141W|C10orf90_ENST00000544758.1_Missense_Mutation_p.R285W|C10orf90_ENST00000392694.1_Missense_Mutation_p.R141W	p.R188W	NM_001004298.2	NP_001004298.2	WXS	Illumina HiSeq	Phase_I	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	682	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	188					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.562C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723044	0.30503	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.26067	2.07;2.07;2.07;2.07;1.76	5.0	0.832	0.18867	.	2.152830	0.01694	N	0.026794	T	0.21427	0.0516	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.21381	0.041;0.041;0.055;0.015;0.022	B;B;B;B;B	0.12156	0.005;0.005;0.007;0.003;0.007	T	0.23868	-1.0176	10	0.45353	T	0.12	1.6789	7.9472	0.29993	0.1028:0.5018:0.3954:0.0	.	285;285;141;188;188	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	W	141;188;188;285;188;141;141	ENSP00000284694:R188W;ENSP00000398786:R188W;ENSP00000444369:R285W;ENSP00000405995:R188W;ENSP00000376459:R141W	ENSP00000284694:R188W	R	-	1	2	C10orf90	128183197	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.302000	0.08221	-0.005000	0.14395	0.655000	0.94253	CGG		0.627	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001004298		10:128193207
ALG1L	200810	broad.mit.edu	37	3	125649457	125649457	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:125649457C>T	ENST00000340333.3	-	5	454	c.291G>A	c.(289-291)gtG>gtA	p.V97V	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	97							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CTTCATGTTTCACCAGCTCAT	0.597																																						ENST00000340333.3		NA																	0				large_intestine(2)|lung(2)	4						c.(289-291)gtG>gtA		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like							51.0	55.0	53.0					3																	125649457		1368	2309	3677	SO:0001819	synonymous_variant	200810						transferase activity, transferring glycosyl groups	g.chr3:125649457C>T	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.291G>A	3.37:g.125649457C>T		True	False		Somatic	0					p.V97V	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	WXS	Illumina HiSeq	Phase_I	Q6GMV1	ALG1L_HUMAN			5	454	-			97					D3DNA5	Silent	SNP	ENST00000340333.3	37	c.291G>A	CCDS33840.1																																																																																				0.597	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	0	NM_001015050		3:125649457
GBA3	57733	broad.mit.edu	37	4	22737642	22737642	+	RNA	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:22737642G>T	ENST00000503442.1	+	0	188				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGTGTCTGGGACACATTTAC	0.448																																						ENST00000508166.1		NA																	0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							112.0	115.0	114.0					4																	22737642		1931	4143	6074			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737642G>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737642G>T		True	False		Somatic	0				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA		NM_020973.4	NP_066024.1	WXS	Illumina HiSeq	Phase_I	Q9H227	GBA3_HUMAN			0	199	+			NA					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.448	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0			4:22737642
GRID2	2895	broad.mit.edu	37	4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:94376883G>A	ENST00000282020.4	+	11	1874	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTTACGACACGTTACATGGAC	0.443																																						ENST00000282020.4		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1615-1617)cGt>cAt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						160.0	144.0	149.0					4																	94376883		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376883G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1616G>A	4.37:g.94376883G>A	ENSP00000282020:p.Arg539His	False	False		Somatic	0				GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	p.R539H	NM_001510.2	NP_001501.2	WXS	Illumina HiSeq	Phase_I	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1874	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	539					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1616G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086141	0.94100	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27402	1.67;1.67	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59198	-0.7499	10	0.66056	D	0.02	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	444;539	E9PH24;O43424	.;GRID2_HUMAN	H	539;444	ENSP00000282020:R539H;ENSP00000421257:R444H	ENSP00000282020:R539H	R	+	2	0	GRID2	94595906	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT		0.443	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	0			4:94376883
SLC35B2	347734	broad.mit.edu	37	6	44223304	44223304	+	Silent	SNP	A	A	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:44223304A>T	ENST00000393812.3	-	4	581	c.438T>A	c.(436-438)ggT>ggA	p.G146G	SLC35B2_ENST00000537814.1_Silent_p.G13G|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000538577.1_Silent_p.G53G|SLC35B2_ENST00000393810.1_Nonstop_Mutation_p.*95R|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	146					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAAAGCGCTCACCCGGTGATG	0.572																																						ENST00000393810.1		NA																	0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(283-285)Tga>Aga		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							88.0	86.0	86.0					6																	44223304		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44223304A>T	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.438T>A	6.37:g.44223304A>T		True	False		Somatic	0				SLC35B2_ENST00000393812.3_Silent_p.G146G|SLC35B2_ENST00000538577.1_Silent_p.G53G|SLC35B2_ENST00000537814.1_Silent_p.G13G|SLC35B2_ENST00000495706.1_5'UTR	p.*95R			WXS	Illumina HiSeq	Phase_I	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	426	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		0					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Nonstop_Mutation	SNP	ENST00000393812.3	37	c.283T>A	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	A	0.730	-0.780181	0.02929	.	.	ENSG00000157593	ENST00000393810	.	.	.	5.79	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.7141	1.3736	0.02215	0.1841:0.2603:0.2932:0.2624	.	.	.	.	R	95	.	.	X	-	1	0	SLC35B2	44331282	0.000000	0.05858	0.182000	0.23118	0.791000	0.44710	-3.600000	0.00418	-2.176000	0.00770	-0.379000	0.06801	TGA		0.572	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2	0			6:44223304
DICER1	23405	broad.mit.edu	37	14	95572489	95572489	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:95572489T>A	ENST00000526495.1	-	20	3167	c.2876A>T	c.(2875-2877)aAa>aTa	p.K959I	DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I|DICER1_ENST00000343455.3_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000556045.1_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	959	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAAGGAAATTTACTGAGTGG	0.373			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(2875-2877)aAa>aTa		dicer 1, ribonuclease type III							107.0	116.0	113.0					14																	95572489		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572489T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2876A>T	14.37:g.95572489T>A	ENSP00000437256:p.Lys959Ile	True	False		Somatic	0				DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I|DICER1_ENST00000343455.3_Missense_Mutation_p.K959I	p.K959I			WXS	Illumina HiSeq	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3167	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	959			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2876A>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418738	0.83559	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.69	4.52	0.55395	Argonaute/Dicer protein, PAZ (4);	0.043854	0.85682	D	0.000000	T	0.22399	0.0540	L	0.31371	0.925	0.80722	D	1	P	0.41748	0.761	P	0.51487	0.671	T	0.01205	-1.1419	10	0.48119	T	0.1	-20.6741	12.8648	0.57934	0.0:0.0:0.1361:0.8639	.	959	Q9UPY3	DICER_HUMAN	I	959	ENSP00000343745:K959I;ENSP00000437256:K959I;ENSP00000376783:K959I;ENSP00000435681:K959I;ENSP00000444719:K959I	ENSP00000343745:K959I	K	-	2	0	DICER1	94642242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.241000	0.72369	0.952000	0.37798	0.533000	0.62120	AAA		0.373	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	0			14:95572489
EMP3	2014	broad.mit.edu	37	19	48833591	48833591	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:48833591C>G	ENST00000270221.6	+	5	657	c.356C>G	c.(355-357)gCc>gGc	p.A119G	EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	119					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTGATCTATGCCATTCACGCC	0.607																																						ENST00000270221.6		NA																	0				lung(1)	1						c.(355-357)gCc>gGc		epithelial membrane protein 3							91.0	88.0	89.0					19																	48833591		2203	4300	6503	SO:0001583	missense	2014				cell growth|negative regulation of cell proliferation	integral to membrane		g.chr19:48833591C>G	U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.356C>G	19.37:g.48833591C>G	ENSP00000270221:p.Ala119Gly	False	False		Somatic	0				EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G	p.A119G	NM_001425.2	NP_001416.1	WXS	Illumina HiSeq	Phase_I	P54852	EMP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	5	657	+		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)	119					Q6FH01	Missense_Mutation	SNP	ENST00000270221.6	37	c.356C>G	CCDS12715.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898759	0.72639	.	.	ENSG00000142227	ENST00000270221	D	0.89123	-2.47	4.35	3.31	0.37934	.	0.115317	0.64402	D	0.000015	T	0.82010	0.4944	N	0.22421	0.69	0.38944	D	0.958205	B	0.30542	0.284	B	0.33568	0.166	T	0.82218	-0.0566	10	0.87932	D	0	.	11.387	0.49791	0.0:0.9088:0.0:0.0912	.	119	P54852	EMP3_HUMAN	G	119	ENSP00000270221:A119G	ENSP00000270221:A119G	A	+	2	0	EMP3	53525403	0.987000	0.35691	0.993000	0.49108	0.837000	0.47467	4.846000	0.62860	1.168000	0.42723	0.561000	0.74099	GCC		0.607	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465613.1	0	NM_001425		19:48833591
DNAH10	196385	broad.mit.edu	37	12	124323215	124323215	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:124323215C>T	ENST00000409039.3	+	28	4786	c.4761C>T	c.(4759-4761)tgC>tgT	p.C1587C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1587	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCACTCTGCGTCCAGGAGC	0.537																																						ENST00000409039.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4759-4761)tgC>tgT		dynein, axonemal, heavy chain 10							97.0	99.0	98.0					12																	124323215		1992	4169	6161	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124323215C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4761C>T	12.37:g.124323215C>T		False	False		Somatic	0					p.C1587C	NM_207437.3	NP_997320.2	WXS	Illumina HiSeq	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	28	4786	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1587			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.4761C>T	CCDS9255.2																																																																																				0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	0			12:124323215
HAUS5	23354	broad.mit.edu	37	19	36104957	36104957	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:36104957C>G	ENST00000203166.5	+	4	240	c.215C>G	c.(214-216)cCa>cGa	p.P72R	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	72					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.P72L(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CAGGACAGTCCACAGGTGAGA	0.537																																						ENST00000203166.5		NA																	1	Substitution - Missense(1)	p.P72L(1)	large_intestine(1)	NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(214-216)cCa>cGa		HAUS augmin-like complex, subunit 5							57.0	60.0	59.0					19																	36104957		2201	4300	6501	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36104957C>G	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.215C>G	19.37:g.36104957C>G	ENSP00000439056:p.Pro72Arg	False	False		Somatic	0				HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R	p.P72R	NM_015302.1	NP_056117.1	WXS	Illumina HiSeq	Phase_I	O94927	HAUS5_HUMAN			4	240	+			72					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.215C>G	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886990	0.72410	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.29917	1.55;1.55	4.98	4.98	0.66077	.	0.281001	0.35407	N	0.003229	T	0.32406	0.0828	N	0.08118	0	0.35460	D	0.796479	D	0.67145	0.996	D	0.67382	0.951	T	0.43893	-0.9363	10	0.39692	T	0.17	-11.1042	13.633	0.62206	0.0:1.0:0.0:0.0	.	72	O94927	HAUS5_HUMAN	R	72	ENSP00000439056:P72R;ENSP00000444373:P72R	ENSP00000439056:P72R	P	+	2	0	HAUS5	40796797	0.955000	0.32602	1.000000	0.80357	0.807000	0.45602	1.249000	0.32839	2.581000	0.87130	0.655000	0.94253	CCA		0.537	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	0			19:36104957
KDM3A	55818	broad.mit.edu	37	2	86693827	86693827	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:86693827C>T	ENST00000409556.1	+	11	1705	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	447			S -> P (in dbSNP:rs34605051). {ECO:0000269|PubMed:17974005}.		androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCTTCCCCATCGGATGTTTCA	0.448																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1339-1341)tCg>tTg		lysine (K)-specific demethylase 3A							110.0	108.0	109.0					2																	86693827		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86693827C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1340C>T	2.37:g.86693827C>T	ENSP00000386660:p.Ser447Leu	False	False		Somatic	0				KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L|KDM3A_ENST00000485171.1_3'UTR	p.S447L			WXS	Illumina HiSeq	Phase_I	Q9Y4C1	KDM3A_HUMAN			11	1705	+			447		S -> P (in dbSNP:rs34605051).			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1340C>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073442	0.36566	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.65	5.65	0.86999	.	0.170906	0.41712	D	0.000825	T	0.42698	0.1214	L	0.27053	0.805	0.09310	N	0.999999	P;P	0.39696	0.683;0.555	B;B	0.29716	0.106;0.049	T	0.45323	-0.9269	10	0.41790	T	0.15	.	16.8834	0.86069	0.0:1.0:0.0:0.0	.	395;447	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	447;447;447;447;395	ENSP00000386660:S447L;ENSP00000323659:S447L;ENSP00000386516:S447L;ENSP00000438324:S395L	ENSP00000323659:S447L	S	+	2	0	KDM3A	86547338	0.450000	0.25697	0.025000	0.17156	0.248000	0.25809	3.021000	0.49651	2.663000	0.90544	0.563000	0.77884	TCG		0.448	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	0	NM_018433		2:86693827
ARHGEF40	55701	broad.mit.edu	37	14	21544779	21544779	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:21544779C>T	ENST00000298694.4	+	7	2021	c.1894C>T	c.(1894-1896)Cca>Tca	p.P632S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P632S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	632						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGATGACCTTCCAACTGAACT	0.517																																						ENST00000298694.4		NA																	0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1894-1896)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 40							168.0	165.0	166.0					14																	21544779		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21544779C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1894C>T	14.37:g.21544779C>T	ENSP00000298694:p.Pro632Ser	False	False		Somatic	0				ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P632S	p.P632S			WXS	Illumina HiSeq	Phase_I	Q8TER5	ARH40_HUMAN			7	2021	+			632					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.1894C>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752913	0.15778	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02682	4.26;4.2	5.76	2.85	0.33270	.	0.418092	0.20631	N	0.088588	T	0.02533	0.0077	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44574	-0.9319	10	0.25106	T	0.35	.	4.7742	0.13171	0.154:0.616:0.1486:0.0814	.	632	Q8TER5	ARH40_HUMAN	S	632	ENSP00000298694:P632S;ENSP00000298693:P632S	ENSP00000298693:P632S	P	+	1	0	ARHGEF40	20614619	0.002000	0.14202	0.122000	0.21767	0.147000	0.21601	1.030000	0.30153	0.776000	0.33473	0.561000	0.74099	CCA		0.517	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1	0			14:21544779
PPP1R3C	5507	broad.mit.edu	37	10	93389939	93389939	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:93389939C>G	ENST00000238994.5	-	2	783	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AAATGCAGAACTCAATTTTCT	0.408																																						ENST00000238994.5		NA																	0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(697-699)gaG>gaC		protein phosphatase 1, regulatory subunit 3C							98.0	91.0	93.0					10																	93389939		2203	4300	6503	SO:0001583	missense	5507						protein serine/threonine phosphatase activity	g.chr10:93389939C>G	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.699G>C	10.37:g.93389939C>G	ENSP00000238994:p.Glu233Asp	False	False		Somatic	0					p.E233D	NM_005398.5	NP_005389.1	WXS	Illumina HiSeq	Phase_I	Q9UQK1	PPR3C_HUMAN			2	783	-		Colorectal(252;0.235)	233			CBM21.|Interaction with EPM2A.			Missense_Mutation	SNP	ENST00000238994.5	37	c.699G>C	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493100	0.64186	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.65916	-0.18	5.73	4.82	0.62117	Putative phosphatase regulatory subunit (2);	0.054846	0.64402	D	0.000001	T	0.78641	0.4315	M	0.87097	2.86	0.58432	D	0.999993	D	0.71674	0.998	D	0.87578	0.998	T	0.79315	-0.1854	10	0.48119	T	0.1	-33.3203	8.699	0.34314	0.0:0.7879:0.0:0.2121	.	233	Q9UQK1	PPR3C_HUMAN	D	233;213;115	ENSP00000238994:E233D	ENSP00000238994:E233D	E	-	3	2	PPP1R3C	93379919	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.666000	0.25097	2.699000	0.92147	0.655000	0.94253	GAG		0.408	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	0	NM_005398		10:93389939
LRRC17	10234	broad.mit.edu	37	7	102585031	102585031	+	Missense_Mutation	SNP	G	G	A	rs117261467	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:102585031G>A	ENST00000339431.4	+	4	1598	c.1303G>A	c.(1303-1305)Gta>Ata	p.V435I	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	435					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGCAAAGCGTAATAATTAC	0.318													G|||	2	0.000399361	0.0	0.0	5008	,	,		19988	0.0		0.001	False		,,,				2504	0.001					ENST00000339431.4		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1303-1305)Gta>Ata		leucine rich repeat containing 17		G	ILE/VAL,,,	0,4406		0,0,2203	63.0	64.0	64.0		1303,,,	6.0	1.0	7	dbSNP_133	64	14,8586	10.5+/-38.8	0,14,4286	yes	missense,intron,utr-3,intron	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	29,,,	0,14,6489	AA,AG,GG		0.1628,0.0,0.1076	possibly-damaging,,,	435/442,,,	102585031	14,12992	2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102585031G>A	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1303G>A	7.37:g.102585031G>A	ENSP00000344242:p.Val435Ile	False	False		Somatic	0				FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000249377.4_3'UTR	p.V435I	NM_001031692.2	NP_001026862.1	WXS	Illumina HiSeq	Phase_I	Q8N6Y2	LRC17_HUMAN			4	1598	+			435					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.1303G>A	CCDS34721.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.8	4.337605	0.81911	0.0	0.001628	ENSG00000128606	ENST00000339431	T	0.59638	0.25	6.03	6.03	0.97812	.	0.000000	0.52532	D	0.000068	T	0.58061	0.2096	M	0.62723	1.935	0.80722	D	1	D	0.58268	0.982	B	0.41374	0.355	T	0.57183	-0.7855	10	0.27785	T	0.31	-22.2805	20.5568	0.99304	0.0:0.0:1.0:0.0	.	435	Q8N6Y2	LRC17_HUMAN	I	435	ENSP00000344242:V435I	ENSP00000344242:V435I	V	+	1	0	LRRC17	102372267	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.860000	0.55995	2.861000	0.98227	0.655000	0.94253	GTA		0.318	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	0	NM_005824		7:102585031
TBC1D9	23158	broad.mit.edu	37	4	141543578	141543578	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:141543578C>T	ENST00000442267.2	-	21	3646	c.3572G>A	c.(3571-3573)cGg>cAg	p.R1191Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1191							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGCTCCGCACCAGGAC	0.662																																						ENST00000442267.2		NA																	0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3571-3573)cGg>cAg		TBC1 domain family, member 9 (with GRAM domain)							30.0	36.0	34.0					4																	141543578		2097	4196	6293	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543578C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3572G>A	4.37:g.141543578C>T	ENSP00000411197:p.Arg1191Gln	False	False		Somatic	0					p.R1191Q	NM_015130.2	NP_055945.2	WXS	Illumina HiSeq	Phase_I	Q6ZT07	TBCD9_HUMAN			21	3646	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1191					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3572G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101168	0.56183	.	.	ENSG00000109436	ENST00000442267	T	0.07908	3.15	5.01	4.17	0.49024	.	0.055070	0.85682	D	0.000000	T	0.03959	0.0111	N	0.12182	0.205	0.58432	D	0.999999	D	0.57257	0.979	B	0.36378	0.223	T	0.53380	-0.8447	10	0.13108	T	0.6	.	13.3474	0.60582	0.0:0.9239:0.0:0.0761	.	1191	Q6ZT07	TBCD9_HUMAN	Q	1191	ENSP00000411197:R1191Q	ENSP00000411197:R1191Q	R	-	2	0	TBC1D9	141763028	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	5.760000	0.68793	1.109000	0.41680	0.655000	0.94253	CGG		0.662	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	0	NM_015130		4:141543578
MCF2L	23263	broad.mit.edu	37	13	113678964	113678964	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr13:113678964G>A	ENST00000375608.3	+	4	318	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000397030.1_Missense_Mutation_p.R90Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCAGGTGGGCGGGGGCAGGAC	0.612																																						ENST00000397030.1		NA																	0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(268-270)cGg>cAg		MCF.2 cell line derived transforming sequence-like							55.0	56.0	56.0					13																	113678964		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113678964G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.260G>A	13.37:g.113678964G>A	ENSP00000364758:p.Arg87Gln	True	False		Somatic	0				MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q	p.R90Q			WXS	Illumina HiSeq	Phase_I	O15068	MCF2L_HUMAN			3	306	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	87			CRAL-TRIO.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.269G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.122466	0.94429	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000433807;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397024	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.16	4.16	0.48862	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.83774	2.66	0.46981	D	0.999278	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.84359	0.0537	10	0.87932	D	0	.	15.586	0.76482	0.0:0.0:1.0:0.0	.	55;57;114;55;87	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.;.;.;.;MCF2L_HUMAN	Q	87;87;114;90;57;57;61;61;63;63;28;55;55;55	ENSP00000364758:R87Q;ENSP00000401422:R87Q;ENSP00000364754:R114Q;ENSP00000380225:R90Q;ENSP00000440374:R57Q;ENSP00000397285:R61Q;ENSP00000364751:R61Q;ENSP00000407722:R63Q;ENSP00000386551:R28Q;ENSP00000405639:R55Q;ENSP00000364747:R55Q	ENSP00000364747:R55Q	R	+	2	0	MCF2L	112726965	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.629000	0.67798	2.037000	0.60232	0.462000	0.41574	CGG		0.612	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	0			13:113678964
ABCA12	26154	broad.mit.edu	37	2	215891634	215891634	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:215891634C>T	ENST00000272895.7	-	10	1309	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	364					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAAGAGGGCATCTTCAAAG	0.353																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7		NA																	0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1090-1092)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 12							108.0	118.0	115.0					2																	215891634		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215891634C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1090G>A	2.37:g.215891634C>T	ENSP00000272895:p.Ala364Thr	True	False		Somatic	0				ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T|AC072062.3_ENST00000437897.3_RNA	p.A364T	NM_173076.2	NP_775099.2	WXS	Illumina HiSeq	Phase_I	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	10	1309	-		Renal(323;0.127)	364					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1090G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673387	0.29693	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.47528	0.84;0.84	5.78	2.97	0.34412	.	0.691400	0.13955	N	0.351234	T	0.22898	0.0553	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05886	-1.0858	10	0.19590	T	0.45	.	5.212	0.15322	0.1525:0.6287:0.0:0.2188	.	364;46	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	364;46	ENSP00000272895:A364T;ENSP00000374312:A46T	ENSP00000272895:A364T	A	-	1	0	ABCA12	215599879	0.993000	0.37304	0.962000	0.40283	0.878000	0.50629	0.882000	0.28186	0.766000	0.33244	0.655000	0.94253	GCC		0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	0	NM_173076		2:215891634
NBPF10	100132406	broad.mit.edu	37	1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	rs77113202		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483																																						ENST00000342960.5		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)gCg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324377C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3572C>A	1.37:g.145324377C>A	ENSP00000345684:p.Ala1191Glu	False	False		Somatic	0				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	p.A1191E	NM_001039703.4	NP_001034792.4	WXS	Illumina HiSeq	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3607	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3572C>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.756002	0.00085	.	.	ENSG00000163386	ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.00162	-1.95	0.09310	N	1	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.02654	T	1	.	.	.	.	.	.	.	.	E	1191	ENSP00000345684:A1191E	ENSP00000345684:A1191E	A	+	2	0	NBPF10	144035734	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.161000	0.16481	-1.406000	0.02045	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001039703		1:145324377
KMT2C	58508	broad.mit.edu	37	7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:151933008G>A	ENST00000262189.6	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S888F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	888					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATCCAGACCCACGGCC	0.453																																						ENST00000355193.2		NA																	0					NA						c.(2662-2664)tCt>tTt		lysine (K)-specific methyltransferase 2C							32.0	33.0	33.0					7																	151933008		2202	4298	6500	SO:0001583	missense	58508							g.chr7:151933008G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2663C>T	7.37:g.151933008G>A	ENSP00000262189:p.Ser888Phe	False	False		Somatic	0				KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F	p.S888F			WXS	Illumina HiSeq	Phase_I					16	2881	-			NA					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2663C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243507	0.58995	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87412	-2.24;-2.25	5.1	5.1	0.69264	.	0.000000	0.42172	D	0.000746	D	0.92341	0.7570	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.93043	0.6459	10	0.87932	D	0	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	888	Q8NEZ4	MLL3_HUMAN	F	888	ENSP00000262189:S888F;ENSP00000347325:S888F	ENSP00000262189:S888F	S	-	2	0	MLL3	151563941	1.000000	0.71417	0.953000	0.39169	0.963000	0.63663	7.232000	0.78116	2.530000	0.85305	0.650000	0.86243	TCT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3	0			7:151933008
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:7578235T>G	ENST00000269305.4	-	6	803	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000420246.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATCCAAATACTCCACACG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(613-615)tAt>tCt	Other conserved DNA damage response genes	tumor protein p53							136.0	121.0	126.0					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>C	17.37:g.7578235T>G	ENSP00000269305:p.Tyr205Ser	True	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S	p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	746	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.614A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897640	0.72639	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92738	3.34	0.58432	D	0.999999	P;D;P;P;D;P;P	0.58268	0.766;0.982;0.89;0.954;0.974;0.853;0.943	P;P;P;P;P;P;P	0.61940	0.714;0.829;0.681;0.781;0.896;0.781;0.623	D	0.97292	0.9925	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205S;ENSP00000352610:Y205S;ENSP00000269305:Y205S;ENSP00000398846:Y205S;ENSP00000391127:Y205S;ENSP00000391478:Y205S;ENSP00000425104:Y73S;ENSP00000423862:Y112S	ENSP00000269305:Y205S	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578235
CLCA1	1179	broad.mit.edu	37	1	86961301	86961301	+	Missense_Mutation	SNP	C	C	T	rs373476030		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:86961301C>T	ENST00000234701.3	+	13	2407	c.2056C>T	c.(2056-2058)Cgg>Tgg	p.R686W	CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	686					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CGCAGCCAGACGGAGAGTGAT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20857	0.0		0.001	False		,,,				2504	0.0					ENST00000234701.3		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2056-2058)Cgg>Tgg		chloride channel accessory 1		C	TRP/ARG	0,4406		0,0,2203	92.0	89.0	90.0		2056	3.8	0.0	1		90	2,8598	2.2+/-6.3	0,2,4298	no	missense	CLCA1	NM_001285.3	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	686/915	86961301	2,13004	2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86961301C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2056C>T	1.37:g.86961301C>T	ENSP00000234701:p.Arg686Trp	False	False		Somatic	0				CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W	p.R686W			WXS	Illumina HiSeq	Phase_I	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	13	2407	+		Lung NSC(277;0.239)	686					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2056C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959770	0.34565	0.0	2.33E-4	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.03152	4.03;4.03	5.69	3.76	0.43208	.	0.549745	0.17770	N	0.162617	T	0.01523	0.0049	L	0.31926	0.97	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.43360	-0.9396	10	0.44086	T	0.13	-0.0463	16.1222	0.81365	0.0:0.747:0.253:0.0	.	686	A8K7I4	CLCA1_HUMAN	W	686	ENSP00000234701:R686W;ENSP00000378200:R686W	ENSP00000234701:R686W	R	+	1	2	CLCA1	86733889	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.487000	0.22356	0.816000	0.34421	-0.175000	0.13238	CGG		0.453	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	0	NM_001285		1:86961301
TSHZ3	57616	broad.mit.edu	37	19	31770055	31770055	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31770055C>T	ENST00000240587.4	-	2	971	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	215					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCCTTACAGCGGAACTTGCT	0.612																																						ENST00000240587.4		NA																	0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(643-645)cGc>cAc		teashirt zinc finger homeobox 3							108.0	99.0	102.0					19																	31770055		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770055C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.644G>A	19.37:g.31770055C>T	ENSP00000240587:p.Arg215His	False	False		Somatic	0					p.R215H	NM_020856.2	NP_065907.2	WXS	Illumina HiSeq	Phase_I	Q63HK5	TSH3_HUMAN			2	971	-	Esophageal squamous(110;0.226)		215					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.644G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245903	0.80024	.	.	ENSG00000121297	ENST00000240587	T	0.15139	2.45	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.37561	1.115	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01858	-1.1259	10	0.42905	T	0.14	-25.4075	19.2151	0.93774	0.0:1.0:0.0:0.0	.	215	Q63HK5	TSH3_HUMAN	H	215	ENSP00000240587:R215H	ENSP00000240587:R215H	R	-	2	0	TSHZ3	36461895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.509000	0.84616	0.655000	0.94253	CGC		0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	NM_020856		19:31770055
ADAMTSL4	54507	broad.mit.edu	37	1	150527952	150527952	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:150527952C>T	ENST00000369038.2	+	6	1483	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R428C			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	428					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGTGGCTTCCGCTTCTATGT	0.607																																						ENST00000271643.4		NA																	0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1282-1284)Cgc>Tgc		ADAMTS-like 4							86.0	76.0	79.0					1																	150527952		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150527952C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1282C>T	1.37:g.150527952C>T	ENSP00000358034:p.Arg428Cys	False	False		Somatic	0				ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C|RP11-54A4.2_ENST00000442435.2_RNA	p.R428C	NM_019032.4	NP_061905.2	WXS	Illumina HiSeq	Phase_I	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1518	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		428					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1282C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291565	0.80914	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.68765	3.82;3.82;-0.35;3.82	4.69	4.69	0.59074	.	.	.	.	.	T	0.77631	0.4159	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.997;0.999	T	0.80717	-0.1258	9	0.87932	D	0	.	15.1631	0.72801	0.0:1.0:0.0:0.0	.	451;451;428;428	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	C	428;428;451;428	ENSP00000358037:R428C;ENSP00000271643:R428C;ENSP00000358035:R451C;ENSP00000358034:R428C	ENSP00000271643:R428C	R	+	1	0	ADAMTSL4	148794576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.720000	0.54933	2.426000	0.82243	0.561000	0.74099	CGC		0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	0	NM_019032		1:150527952
ARHGAP44	9912	broad.mit.edu	37	17	12883530	12883530	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:12883530G>A	ENST00000379672.5	+	19	2219	c.1919G>A	c.(1918-1920)aGt>aAt	p.S640N	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S640N|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S634N|ARHGAP44_ENST00000578087.1_3'UTR	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	640					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCAGACCAGAGTCCTCACACC	0.642																																						ENST00000379672.5		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(1918-1920)aGt>aAt		Rho GTPase activating protein 44							29.0	36.0	33.0					17																	12883530		1947	4154	6101	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12883530G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1919G>A	17.37:g.12883530G>A	ENSP00000368994:p.Ser640Asn	False	False		Somatic	0				ARHGAP44_ENST00000578087.1_3'UTR|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S634N|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S640N	p.S640N	NM_014859.4	NP_055674.4	WXS	Illumina HiSeq	Phase_I	Q17R89	RHG44_HUMAN			19	2219	+			640					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.1919G>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754676	0.89843	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T	0.35789	1.38;1.29	4.87	4.87	0.63330	.	0.092219	0.64402	D	0.000001	T	0.56352	0.1979	L	0.57536	1.79	0.58432	D	0.999997	D;D;D;D	0.71674	0.981;0.991;0.998;0.981	D;D;D;D	0.80764	0.954;0.988;0.994;0.954	T	0.59069	-0.7523	10	0.87932	D	0	.	15.5477	0.76118	0.0:0.0:1.0:0.0	.	634;98;296;640	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	N	640;296;634;98	ENSP00000368994:S640N;ENSP00000342566:S634N	ENSP00000262444:S98N	S	+	2	0	ARHGAP44	12824255	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.915000	0.75770	2.537000	0.85549	0.555000	0.69702	AGT		0.642	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	0	NM_014859		17:12883530
MLLT3	4300	broad.mit.edu	37	9	20414334	20414334	+	Silent	SNP	G	G	A	rs553184543	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:20414334G>A	ENST00000380338.4	-	5	796	c.510C>T	c.(508-510)agC>agT	p.S170S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S167S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	170	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctac	0.537			T	MLL	ALL								G|||	2	0.000399361	0.0008	0.0	5008	,	,		12442	0.0		0.0	False		,,,				2504	0.001					ENST00000380338.4		NA		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(508-510)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	17.0	15.0					9																	20414334		1758	3576	5334	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414334G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.510C>T	9.37:g.20414334G>A		True	False		Somatic	0				MLLT3_ENST00000429426.2_Silent_p.S167S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S170S	NM_004529.2	NP_004520.2	WXS	Illumina HiSeq	Phase_I	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	796	-			170			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.510C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	0	NM_004529		9:20414334
INADL	10207	broad.mit.edu	37	1	62455974	62455974	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:62455974A>C	ENST00000371158.2	+	28	3919	c.3805A>C	c.(3805-3807)Att>Ctt	p.I1269L	INADL_ENST00000543708.1_Missense_Mutation_p.I53L|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.I1269L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1269	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGGTGGGAATTAACCCGGA	0.428																																						ENST00000371158.2		NA																	0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3805-3807)Att>Ctt		InaD-like (Drosophila)							100.0	94.0	96.0					1																	62455974		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62455974A>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3805A>C	1.37:g.62455974A>C	ENSP00000360200:p.Ile1269Leu	False	False		Somatic	0				INADL_ENST00000543708.1_Missense_Mutation_p.I53L|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.I1269L	p.I1269L	NM_176877.2	NP_795352	WXS	Illumina HiSeq	Phase_I	Q8NI35	INADL_HUMAN			28	3919	+			1269			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3805A>C	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175730	0.78564	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.84	5.84	0.93424	PDZ/DHR/GLGF (4);	0.078603	0.51477	D	0.000096	T	0.61664	0.2365	L	0.56396	1.775	0.80722	D	1	B;P;D;D;D	0.57571	0.028;0.911;0.966;0.973;0.98	P;D;D;D;D	0.81914	0.592;0.986;0.991;0.995;0.995	T	0.61028	-0.7145	10	0.48119	T	0.1	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	53;728;1269;1269;1269	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	L	1269;1269;1269;1269;53;53	ENSP00000360200:I1269L;ENSP00000326199:I1269L;ENSP00000307496:I53L;ENSP00000445790:I53L	ENSP00000307496:I53L	I	+	1	0	INADL	62228562	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.256000	0.72473	2.228000	0.72767	0.533000	0.62120	ATT		0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	0	NM_170605		1:62455974
LHX9	56956	broad.mit.edu	37	1	197889248	197889248	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:197889248C>T	ENST00000367387.4	+	2	746	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_ENST00000367391.1_Silent_p.S98S|LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000367390.3_Silent_p.S98S|LHX9_ENST00000337020.2_Silent_p.S107S	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	107	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S107S(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557																																						ENST00000367390.3		NA																	2	Substitution - coding silent(2)	p.S107S(1)|p.S98S(1)	lung(2)	endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(292-294)tcC>tcT		LIM homeobox 9							217.0	205.0	209.0					1																	197889248		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197889248C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.321C>T	1.37:g.197889248C>T		False	False		Somatic	0				LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S|LHX9_ENST00000367387.4_Silent_p.S107S|LHX9_ENST00000367391.1_Silent_p.S98S	p.S98S	NM_001014434.1	NP_001014434.1	WXS	Illumina HiSeq	Phase_I	Q9NQ69	LHX9_HUMAN			3	321	+			107			LIM zinc-binding 1.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.294C>T	CCDS1393.1																																																																																				0.557	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	0	NM_020204		1:197889248
USP10	9100	broad.mit.edu	37	16	84806216	84806216	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:84806216G>A	ENST00000219473.7	+	12	2181	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	USP10_ENST00000570191.1_Missense_Mutation_p.V694I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	690	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAAACGATTCGTTTATGAGAA	0.443																																						ENST00000219473.7		NA																	0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2068-2070)Gtt>Att		ubiquitin specific peptidase 10							164.0	157.0	159.0					16																	84806216		1919	4142	6061	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84806216G>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2068G>A	16.37:g.84806216G>A	ENSP00000219473:p.Val690Ile	True	False		Somatic	0				USP10_ENST00000570191.1_Missense_Mutation_p.V694I	p.V690I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	WXS	Illumina HiSeq	Phase_I	Q14694	UBP10_HUMAN			12	2181	+			690					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.2068G>A	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353656	0.24512	.	.	ENSG00000103194	ENST00000219473	T	0.30448	1.53	4.38	4.38	0.52667	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.33293	1	0.80722	D	1	D;P	0.57571	0.98;0.914	P;P	0.49683	0.572;0.619	T	0.03807	-1.1002	10	0.30854	T	0.27	-17.0169	16.2965	0.82776	0.0:0.0:1.0:0.0	.	694;690	Q14694-3;Q14694	.;UBP10_HUMAN	I	690	ENSP00000219473:V690I	ENSP00000219473:V690I	V	+	1	0	USP10	83363717	1.000000	0.71417	0.796000	0.32109	0.335000	0.28730	9.178000	0.94855	2.157000	0.67596	0.563000	0.77884	GTT		0.443	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1	0			16:84806216
UTRN	7402	broad.mit.edu	37	6	144759999	144759999	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:144759999A>C	ENST00000367545.3	+	11	1360	c.1360A>C	c.(1360-1362)Aaa>Caa	p.K454Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	454	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGATGATGTAAAATCTCTACA	0.433																																						ENST00000367545.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1360-1362)Aaa>Caa		utrophin							89.0	87.0	88.0					6																	144759999		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144759999A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1360A>C	6.37:g.144759999A>C	ENSP00000356515:p.Lys454Gln	True	False		Somatic	0					p.K454Q	NM_007124.2	NP_009055.2	WXS	Illumina HiSeq	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	11	1360	+		Ovarian(120;0.218)	454			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1360A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	3.826	-0.036673	0.07497	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47869	0.83	5.41	-8.38	0.00973	.	1.903270	0.02816	N	0.124960	T	0.07143	0.0181	N	0.00926	-1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.11329	0.006	T	0.09487	-1.0672	10	0.26408	T	0.33	.	16.917	0.86154	0.1863:0.6844:0.1293:0.0	.	454	P46939	UTRO_HUMAN	Q	454	ENSP00000356515:K454Q	ENSP00000356499:K454Q	K	+	1	0	UTRN	144801692	0.904000	0.30761	0.000000	0.03702	0.000000	0.00434	0.546000	0.23284	-1.159000	0.02807	-1.164000	0.01763	AAA		0.433	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	0			6:144759999
IGF2R	3482	broad.mit.edu	37	6	160517606	160517606	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:160517606C>T	ENST00000356956.1	+	45	6939	c.6791C>T	c.(6790-6792)gCc>gTc	p.A2264V	IGF2R_ENST00000475584.1_3'UTR|RP11-288H12.3_ENST00000569097.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2264					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)	CACGAGACTGCCGACTGCCAG	0.537																																						ENST00000356956.1		NA																	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.(6790-6792)gCc>gTc		insulin-like growth factor 2 receptor							169.0	140.0	150.0					6																	160517606		2203	4300	6503	SO:0001583	missense	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.chr6:160517606C>T	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.6791C>T	6.37:g.160517606C>T	ENSP00000349437:p.Ala2264Val	True	False		Somatic	0				IGF2R_ENST00000475584.1_3'UTR	p.A2264V	NM_000876.2	NP_000867	WXS	Illumina HiSeq	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	45	6939	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2264					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6791C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481500	0.63849	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.69	4.82	0.62117	Mannose-6-phosphate receptor, binding (1);	0.169864	0.51477	D	0.000085	T	0.02571	0.0078	M	0.83692	2.655	0.35229	D	0.776725	P	0.43231	0.801	B	0.41036	0.346	T	0.48896	-0.8994	10	0.30078	T	0.28	-15.7351	16.1287	0.81412	0.1347:0.8653:0.0:0.0	.	2264	P11717	MPRI_HUMAN	V	2264	ENSP00000349437:A2264V	ENSP00000349437:A2264V	A	+	2	0	IGF2R	160437596	1.000000	0.71417	0.963000	0.40424	0.347000	0.29111	5.962000	0.70364	1.389000	0.46526	-0.169000	0.13324	GCC		0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	NM_000876		6:160517606
ACLY	47	broad.mit.edu	37	17	40030190	40030190	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:40030190G>A	ENST00000352035.2	-	23	2646	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	ACLY_ENST00000393896.2_Missense_Mutation_p.S829L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L|ACLY_ENST00000590151.1_Missense_Mutation_p.S839L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	839					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGTCATGAACGAGGCAGGTTT	0.587																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2		NA																NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2515-2517)tCg>tTg		ATP citrate lyase							50.0	45.0	47.0					17																	40030190		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40030190G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2516C>T	17.37:g.40030190G>A	ENSP00000253792:p.Ser839Leu	False	False		Somatic	0				ACLY_ENST00000590151.1_Missense_Mutation_p.S839L|ACLY_ENST00000393896.2_Missense_Mutation_p.S829L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L	p.S839L	NM_001096.2	NP_001087.2	WXS	Illumina HiSeq	Phase_I	P53396	ACLY_HUMAN			23	2646	-		Breast(137;0.000143)	839					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2516C>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265036	0.95399	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.76	5.76	0.90799	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.978;0.959;0.994;0.994;0.978	T	0.19321	-1.0309	10	0.35671	T	0.21	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	568;883;893;829;839	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	839;893;829;568;829	ENSP00000253792:S839L;ENSP00000345398:S829L;ENSP00000445349:S568L;ENSP00000377474:S829L	ENSP00000253792:S839L	S	-	2	0	ACLY	37283716	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.720000	0.98763	2.732000	0.93576	0.655000	0.94253	TCG		0.587	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	0	NM_001096		17:40030190
CAND2	23066	broad.mit.edu	37	3	12869094	12869094	+	Silent	SNP	C	C	T	rs367749511		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12869094C>T	ENST00000456430.2	+	13	3407	c.3366C>T	c.(3364-3366)taC>taT	p.Y1122Y	CAND2_ENST00000295989.5_Silent_p.Y1005Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1122					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACCACTACGACATCCGGG	0.562																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(3364-3366)taC>taT		cullin-associated and neddylation-dissociated 2 (putative)		C	,	1,4065		0,1,2032	108.0	108.0	108.0		3366,3015	-6.0	0.9	3		108	0,8350		0,0,4175	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6207	TT,TC,CC		0.0,0.0246,0.0081	,	1122/1237,1005/1120	12869094	1,12415	2033	4175	6208	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12869094C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3366C>T	3.37:g.12869094C>T		False	False		Somatic	0				CAND2_ENST00000295989.5_Silent_p.Y1005Y	p.Y1122Y	NM_001162499.1	NP_001155971.1	WXS	Illumina HiSeq	Phase_I	O75155	CAND2_HUMAN			13	3407	+			1122					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.3366C>T	CCDS54554.1																																																																																				0.562	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	XM_371617		3:12869094
RPL32	6161	broad.mit.edu	37	3	12877678	12877678	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12877678C>T	ENST00000429711.2	-	4	422	c.323G>A	c.(322-324)cGc>cAc	p.R108H	RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H|RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	108					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GATGGCTTTGCGGTTCTTGGA	0.507																																						ENST00000429711.2		NA																	0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(322-324)cGc>cAc		ribosomal protein L32							74.0	66.0	68.0					3																	12877678		2203	4298	6501	SO:0001583	missense	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12877678C>T	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.323G>A	3.37:g.12877678C>T	ENSP00000416429:p.Arg108His	False	False		Somatic	0				RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H|RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H	p.R108H	NM_000994.3	NP_000985.1	WXS	Illumina HiSeq	Phase_I	P62910	RL32_HUMAN			4	422	-			108					B2R4Q3|P02433	Missense_Mutation	SNP	ENST00000429711.2	37	c.323G>A	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323886	0.81580	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.58969	1.84	0.80722	D	1	B	0.19817	0.039	B	0.22386	0.039	T	0.62553	-0.6830	9	0.48119	T	0.1	0.0875	17.0408	0.86489	0.0:1.0:0.0:0.0	.	108	P62910	RL32_HUMAN	H	108;108;126;108;108;108	.	ENSP00000339064:R126H	R	-	2	0	RPL32	12852678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.916000	0.69981	2.684000	0.91462	0.655000	0.94253	CGC		0.507	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	0	NM_000994		3:12877678
PEG3	5178	broad.mit.edu	37	19	57327998	57327998	+	Silent	SNP	G	G	A	rs143113379	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:57327998G>A	ENST00000326441.9	-	10	2175	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.R478R|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.R480R|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGTTTCCCCGCGCtcacgtt	0.463																																						ENST00000326441.9		NA																	0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1810-1812)cgC>cgT		paternally expressed 3		A	,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	89.0	74.0	79.0		1812,1434,1812,1440,,,1812,	-3.9	0.0	19	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,	604/1589,478/1463,604/1589,480/1465,,,604/1589,	57327998	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327998G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1812C>T	19.37:g.57327998G>A		True	False		Somatic	0				PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.R478R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.R480R|ZIM2_ENST00000391708.3_Intron	p.R604R	NM_006210.2	NP_006201.1	WXS	Illumina HiSeq	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2175	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	604					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1812C>T	CCDS12948.1																																																																																				0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	0			19:57327998
C9orf139	401563	broad.mit.edu	37	9	139929195	139929195	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:139929195T>A	ENST00000314330.2	+	3	1776	c.262T>A	c.(262-264)Tgt>Agt	p.C88S	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	88										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCTTCCTGTTTGTGCTGCCAG	0.677																																						ENST00000314330.2		NA																	0				cervix(1)|lung(2)	3						c.(262-264)Tgt>Agt		chromosome 9 open reading frame 139							49.0	54.0	52.0					9																	139929195		2200	4294	6494	SO:0001583	missense	401563							g.chr9:139929195T>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.262T>A	9.37:g.139929195T>A	ENSP00000318119:p.Cys88Ser	True	False		Somatic	0					p.C88S	NM_207511.1	NP_997394.1	WXS	Illumina HiSeq	Phase_I	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1776	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	88					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.262T>A	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	t	9.954	1.221083	0.22457	.	.	ENSG00000180539	ENST00000314330	T	0.55052	0.54	2.95	2.95	0.34219	.	.	.	.	.	T	0.41834	0.1176	N	0.08118	0	0.24195	N	0.995533	P	0.50272	0.933	P	0.52909	0.713	T	0.19257	-1.0311	9	0.87932	D	0	.	7.6935	0.28581	0.0:0.0:0.0:1.0	.	88	Q6ZV77	CI139_HUMAN	S	88	ENSP00000318119:C88S	ENSP00000318119:C88S	C	+	1	0	C9orf139	139049016	0.991000	0.36638	0.956000	0.39512	0.072000	0.16883	2.380000	0.44327	1.588000	0.49971	0.241000	0.17934	TGT		0.677	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	0	NM_207511		9:139929195
PLD5	200150	broad.mit.edu	37	1	242271086	242271086	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:242271086C>T	ENST00000536534.2	-	8	1367	c.1126G>A	c.(1126-1128)Gtt>Att	p.V376I	PLD5_ENST00000442594.2_Missense_Mutation_p.V284I|PLD5_ENST00000427495.1_Missense_Mutation_p.V314I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	376						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGAACTCTAACGCTTCGTAAA	0.358																																						ENST00000536534.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1126-1128)Gtt>Att		phospholipase D family, member 5							98.0	101.0	100.0					1																	242271086		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242271086C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1126G>A	1.37:g.242271086C>T	ENSP00000440896:p.Val376Ile	False	False		Somatic	0				PLD5_ENST00000442594.2_Missense_Mutation_p.V284I|PLD5_ENST00000427495.1_Missense_Mutation_p.V314I	p.V376I			WXS	Illumina HiSeq	Phase_I	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		8	1367	-	Melanoma(84;0.242)		NA					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1126G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329054	0.41197	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.38240	1.15;1.15;1.15	5.38	5.38	0.77491	Phospholipase D/viral envelope (1);	0.067526	0.64402	D	0.000014	T	0.24851	0.0603	L	0.33245	0.995	0.47659	D	0.999489	B;B;B	0.29115	0.108;0.233;0.108	B;B;B	0.20384	0.014;0.029;0.009	T	0.06552	-1.0820	10	0.42905	T	0.14	-16.1879	8.703	0.34338	0.0:0.8646:0.0:0.1354	.	284;376;314	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	I	314;284;376	ENSP00000401285:V314I;ENSP00000414188:V284I;ENSP00000440896:V376I	ENSP00000401285:V314I	V	-	1	0	PLD5	240337709	0.962000	0.33011	0.995000	0.50966	0.992000	0.81027	2.078000	0.41567	2.497000	0.84241	0.643000	0.83706	GTT		0.358	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	0	NM_152666		1:242271086
IL4R	3566	broad.mit.edu	37	16	27356274	27356274	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:27356274C>A	ENST00000395762.2	+	5	553	c.294C>A	c.(292-294)aaC>aaA	p.N98K	IL4R_ENST00000170630.2_Missense_Mutation_p.N98K|IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	98					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGCGGATAACTATACACTGG	0.642																																						ENST00000395762.2		NA																	0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(292-294)aaC>aaA		interleukin 4 receptor							107.0	91.0	97.0					16																	27356274		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27356274C>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.294C>A	16.37:g.27356274C>A	ENSP00000379111:p.Asn98Lys	False	False		Somatic	0				IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K|IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K	p.N98K	NM_000418.3	NP_000409.1	WXS	Illumina HiSeq	Phase_I	P24394	IL4RA_HUMAN			5	553	+			98					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.294C>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	c	9.462	1.093474	0.20471	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	3.4	-1.07	0.09968	Interleukin-4 receptor alpha chain, N-terminal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.766520	0.01326	N	0.011099	T	0.09024	0.0223	N	0.22421	0.69	0.09310	N	1	B;P;B	0.40578	0.346;0.722;0.298	B;B;B	0.30316	0.05;0.114;0.029	T	0.15752	-1.0426	10	0.06494	T	0.89	.	2.2459	0.04031	0.1909:0.3504:0.3448:0.1138	.	83;98;98	B4E076;P24394;P24394-2	.;IL4RA_HUMAN;.	K	98;98;98;98;83;98	ENSP00000410322:N98K;ENSP00000379111:N98K;ENSP00000441667:N98K;ENSP00000370309:N83K;ENSP00000170630:N98K	ENSP00000170630:N98K	N	+	3	2	IL4R	27263775	0.006000	0.16342	0.000000	0.03702	0.021000	0.10359	0.000000	0.12993	-0.159000	0.11021	-0.642000	0.03964	AAC		0.642	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4	0			16:27356274
TSHZ3	57616	broad.mit.edu	37	19	31769290	31769290	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31769290A>C	ENST00000240587.4	-	2	1736	c.1409T>G	c.(1408-1410)gTc>gGc	p.V470G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	470					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCCTTCTTGACCTCCACATT	0.532																																						ENST00000240587.4		NA																	0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1408-1410)gTc>gGc		teashirt zinc finger homeobox 3							154.0	155.0	155.0					19																	31769290		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769290A>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1409T>G	19.37:g.31769290A>C	ENSP00000240587:p.Val470Gly	False	False		Somatic	0					p.V470G	NM_020856.2	NP_065907.2	WXS	Illumina HiSeq	Phase_I	Q63HK5	TSH3_HUMAN			2	1736	-	Esophageal squamous(110;0.226)		470					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1409T>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	10.78	1.445905	0.25987	.	.	ENSG00000121297	ENST00000240587	T	0.38560	1.13	5.55	5.55	0.83447	.	0.238434	0.37669	N	0.001998	T	0.24005	0.0581	N	0.08118	0	0.58432	D	0.999998	P	0.36733	0.567	B	0.33521	0.165	T	0.10268	-1.0637	10	0.23891	T	0.37	-29.7855	15.7178	0.77681	1.0:0.0:0.0:0.0	.	470	Q63HK5	TSH3_HUMAN	G	470	ENSP00000240587:V470G	ENSP00000240587:V470G	V	-	2	0	TSHZ3	36461130	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.930000	0.92872	2.099000	0.63709	0.533000	0.62120	GTC		0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	NM_020856		19:31769290
HECTD1	25831	broad.mit.edu	37	14	31575880	31575880	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:31575880C>T	ENST00000399332.1	-	38	7686	c.7198G>A	c.(7198-7200)Ggg>Agg	p.G2400R	HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2400	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTGGAGGCCCAGAACCTGAT	0.378																																						ENST00000399332.1		NA																	0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(7198-7200)Ggg>Agg		HECT domain containing E3 ubiquitin protein ligase 1							90.0	84.0	86.0					14																	31575880		1869	4111	5980	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31575880C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7198G>A	14.37:g.31575880C>T	ENSP00000382269:p.Gly2400Arg	True	False		Somatic	0				HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R	p.G2400R	NM_015382.2	NP_056197.2	WXS	Illumina HiSeq	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7686	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2400			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.7198G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519115	0.85495	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332	T;T	0.41758	0.99;0.99	5.81	5.81	0.92471	HECT (4);	0.000000	0.64402	U	0.000001	T	0.64560	0.2609	M	0.77103	2.36	0.80722	D	1	D	0.58620	0.983	P	0.58266	0.836	T	0.66638	-0.5873	10	0.66056	D	0.02	-8.2215	20.0695	0.97716	0.0:1.0:0.0:0.0	.	2400	Q9ULT8	HECD1_HUMAN	R	2400;2402;2400	ENSP00000450697:G2400R;ENSP00000382269:G2400R	ENSP00000261312:G2402R	G	-	1	0	HECTD1	30645631	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.484000	0.81180	2.738000	0.93877	0.655000	0.94253	GGG		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	0			14:31575880
PREX2	80243	broad.mit.edu	37	8	69033248	69033248	+	Missense_Mutation	SNP	C	C	T	rs143386950		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:69033248C>T	ENST00000288368.4	+	30	3965	c.3688C>T	c.(3688-3690)Cgg>Tgg	p.R1230W		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1230					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCAGCGTCCGGACTCTTGC	0.383																																						ENST00000288368.4		NA																	0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3688-3690)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	73.0	74.0		3688	5.8	1.0	8	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PREX2	NM_024870.2	101	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	1230/1607	69033248	3,13003	2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69033248C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3688C>T	8.37:g.69033248C>T	ENSP00000288368:p.Arg1230Trp	False	False		Somatic	0					p.R1230W	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina HiSeq	Phase_I	Q70Z35	PREX2_HUMAN			30	3965	+			1230					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3688C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154857	0.94686	2.27E-4	2.33E-4	ENSG00000046889	ENST00000288368	T	0.37752	1.18	5.82	5.82	0.92795	.	0.203092	0.44483	D	0.000444	T	0.34279	0.0892	N	0.22421	0.69	0.52501	D	0.99995	P	0.48694	0.914	P	0.44561	0.453	T	0.14448	-1.0472	10	0.72032	D	0.01	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	1230	Q70Z35	PREX2_HUMAN	W	1230	ENSP00000288368:R1230W	ENSP00000288368:R1230W	R	+	1	2	PREX2	69195802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.666000	0.61554	2.752000	0.94435	0.655000	0.94253	CGG		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	0	NM_025170		8:69033248
PCBP3	54039	broad.mit.edu	37	21	47355186	47355186	+	Silent	SNP	G	G	A	rs576585779	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:47355186G>A	ENST00000400314.1	+	14	1214	c.876G>A	c.(874-876)ccG>ccA	p.P292P	PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400308.1_Silent_p.P266P|PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000400310.1_Silent_p.P272P|PCBP3_ENST00000400304.1_Silent_p.P282P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	292					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGCCCACCGGCCAGCACTC	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		17881	0.001		0.0	False		,,,				2504	0.002					ENST00000400314.1		NA																	0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(874-876)ccG>ccA		poly(rC) binding protein 3							62.0	70.0	67.0					21																	47355186		2075	4200	6275	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47355186G>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.876G>A	21.37:g.47355186G>A		False	False		Somatic	0				PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400308.1_Silent_p.P266P|PCBP3_ENST00000400304.1_Silent_p.P282P|PCBP3_ENST00000400310.1_Silent_p.P272P	p.P292P			WXS	Illumina HiSeq	Phase_I	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	14	1214	+	all_hematologic(128;0.24)		292					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.876G>A	CCDS42974.2																																																																																				0.582	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	0			21:47355186
MORC1	27136	broad.mit.edu	37	3	108746697	108746697	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:108746697G>T	ENST00000483760.1	-	17	1648	c.1605C>A	c.(1603-1605)ggC>ggA	p.G535G	MORC1_ENST00000232603.5_Silent_p.G535G					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCTCATGGTGCCCAGTGGGA	0.398																																						ENST00000232603.5		NA																	0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1603-1605)ggC>ggA		MORC family CW-type zinc finger 1							158.0	147.0	151.0					3																	108746697		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108746697G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1605C>A	3.37:g.108746697G>T		True	False		Somatic	0				MORC1_ENST00000483760.1_Silent_p.G535G	p.G535G	NM_014429.3	NP_055244.3	WXS	Illumina HiSeq	Phase_I	Q86VD1	MORC1_HUMAN			17	1687	-			535						Silent	SNP	ENST00000483760.1	37	c.1605C>A																																																																																					0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	0			3:108746697
WNT3A	89780	broad.mit.edu	37	1	228238515	228238515	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228238515G>A	ENST00000284523.1	+	3	550	c.472G>A	c.(472-474)Gac>Aac	p.D158N	WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	158					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTGTAGCGAGGACATCGAGTT	0.657																																						ENST00000284523.1		NA																	0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(472-474)Gac>Aac		wingless-type MMTV integration site family, member 3A							114.0	109.0	110.0					1																	228238515		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228238515G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.472G>A	1.37:g.228238515G>A	ENSP00000284523:p.Asp158Asn	False	False		Somatic	0				WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N	p.D158N	NM_033131.3	NP_149122.1	WXS	Illumina HiSeq	Phase_I	P56704	WNT3A_HUMAN			3	550	+		Prostate(94;0.0405)	158					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.472G>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233798	0.22626	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.73469	-0.75;-0.75	4.78	3.85	0.44370	.	0.056503	0.64402	D	0.000002	T	0.60261	0.2255	N	0.12853	0.265	0.80722	D	1	B;B	0.21309	0.054;0.034	B;B	0.37833	0.259;0.084	T	0.51779	-0.8662	10	0.02654	T	1	.	14.9341	0.70938	0.0:0.144:0.856:0.0	.	158;158	P56704;Q3SY79	WNT3A_HUMAN;.	N	158	ENSP00000284523:D158N;ENSP00000355715:D158N	ENSP00000284523:D158N	D	+	1	0	WNT3A	226305138	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.927000	0.87577	1.010000	0.39314	0.591000	0.81541	GAC		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	0	NM_033131		1:228238515
LILRA3	11026	broad.mit.edu	37	19	54803682	54803682	+	Silent	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:54803682T>G	ENST00000251390.3	-	3	233	c.142A>C	c.(142-144)Agg>Cgg	p.R48R	LILRA3_ENST00000391745.1_Silent_p.R65R|LILRA3_ENST00000391744.3_Silent_p.R48R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	48	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGACACCTGAGGGTCACA	0.547																																						ENST00000391745.1		NA																	0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(193-195)Agg>Cgg		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							89.0	79.0	82.0					19																	54803682		2194	4157	6351	SO:0001819	synonymous_variant	0							g.chr19:54803682T>G	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.142A>C	19.37:g.54803682T>G		False	False		Somatic	0				LILRA3_ENST00000391744.3_Silent_p.R48R|LILRA3_ENST00000251390.3_Silent_p.R48R	p.R65R			WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(193;0.105)	7	509	-	Ovarian(34;0.19)		NA					J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.193A>C	CCDS12887.1																																																																																				0.547	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1	0			19:54803682
TRIM42	287015	broad.mit.edu	37	3	140406735	140406735	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:140406735C>T	ENST00000286349.3	+	3	1402	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	404						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTAGAAGTGTCCAGGCAGAAG	0.433																																						ENST00000286349.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1210-1212)tCc>tTc		tripartite motif containing 42							100.0	98.0	99.0					3																	140406735		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406735C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1211C>T	3.37:g.140406735C>T	ENSP00000286349:p.Ser404Phe	False	False		Somatic	0					p.S404F	NM_152616.4	NP_689829.3	WXS	Illumina HiSeq	Phase_I	Q8IWZ5	TRI42_HUMAN			3	1402	+			404					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1211C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134764	0.37728	.	.	ENSG00000155890	ENST00000286349	T	0.39229	1.09	5.33	3.43	0.39272	.	0.666605	0.14463	N	0.318026	T	0.19525	0.0469	N	0.08118	0	0.28555	N	0.911407	B	0.33379	0.41	B	0.28916	0.096	T	0.03784	-1.1004	10	0.56958	D	0.05	-11.2766	5.5628	0.17154	0.1968:0.7047:0.0:0.0985	.	404	Q8IWZ5	TRI42_HUMAN	F	404	ENSP00000286349:S404F	ENSP00000286349:S404F	S	+	2	0	TRIM42	141889425	0.985000	0.35326	1.000000	0.80357	0.991000	0.79684	1.214000	0.32419	2.676000	0.91093	0.555000	0.69702	TCC		0.433	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	NM_152616		3:140406735
MDN1	23195	broad.mit.edu	37	6	90432759	90432759	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:90432759T>C	ENST00000369393.3	-	40	5997	c.5882A>G	c.(5881-5883)gAc>gGc	p.D1961G	MDN1_ENST00000428876.1_Missense_Mutation_p.D1961G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1961					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGGACTGGTCAACCAGCAT	0.478																																						ENST00000369393.3		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5881-5883)gAc>gGc		MDN1, midasin homolog (yeast)							150.0	165.0	160.0					6																	90432759		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432759T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5882A>G	6.37:g.90432759T>C	ENSP00000358400:p.Asp1961Gly	False	False		Somatic	0				MDN1_ENST00000428876.1_Missense_Mutation_p.D1961G	p.D1961G			WXS	Illumina HiSeq	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	5997	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1961					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5882A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114971	0.56505	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39997	1.05;1.05	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	L	0.56769	1.78	0.80722	D	1	B	0.19200	0.034	B	0.27076	0.076	T	0.10177	-1.0641	10	0.36615	T	0.2	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1961	Q9NU22	MDN1_HUMAN	G	1961	ENSP00000358400:D1961G;ENSP00000413970:D1961G	ENSP00000358400:D1961G	D	-	2	0	MDN1	90489480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.367000	0.80283	0.528000	0.53228	GAC		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0			6:90432759
GART	2618	broad.mit.edu	37	21	34878358	34878358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:34878358G>A	ENST00000381831.3	-	19	2769	c.2506C>T	c.(2506-2508)Caa>Taa	p.Q836*	GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836*|GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	836	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATATCAATTTGTGCAGAGCTA	0.418																																						ENST00000381831.3		NA																	0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(2506-2508)Caa>Taa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						129.0	117.0	121.0					21																	34878358		2203	4300	6503	SO:0001587	stop_gained	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34878358G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2506C>T	21.37:g.34878358G>A	ENSP00000371253:p.Gln836*	True	False		Somatic	0				GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836*|GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*	p.Q836*	NM_001136005.1	NP_001129477.1	WXS	Illumina HiSeq	Phase_I	P22102	PUR2_HUMAN			19	2769	-			836			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Nonsense_Mutation	SNP	ENST00000381831.3	37	c.2506C>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492713	0.96339	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	.	.	.	6.17	1.05	0.20165	.	0.719210	0.14613	N	0.308899	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.0033	11.6304	0.51171	0.1168:0.5242:0.359:0.0	.	.	.	.	X	100;836;836;836;388	.	ENSP00000371236:Q836X	Q	-	1	0	GART	33800228	0.634000	0.27190	0.002000	0.10522	0.413000	0.31143	1.309000	0.33539	-0.070000	0.12908	-0.150000	0.13652	CAA		0.418	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	0	NM_000819		21:34878358
TAP1	6890	broad.mit.edu	37	6	32820990	32820990	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:32820990C>T	ENST00000354258.4	-	1	765	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	202					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCATAACTGACAACGAAGGCG	0.657																																						ENST00000354258.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(604-606)Gtc>Atc		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							25.0	22.0	23.0					6																	32820990		1509	2708	4217	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32820990C>T		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.604G>A	6.37:g.32820990C>T	ENSP00000346206:p.Val202Ile	False	False		Somatic	0				PSMB9_ENST00000395330.1_Intron	p.V202I	NM_000593.5	NP_000584.2	WXS	Illumina HiSeq	Phase_I	Q03518	TAP1_HUMAN			1	765	-			202					Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.604G>A	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341922	0.24339	.	.	ENSG00000168394	ENST00000354258	D	0.86865	-2.18	4.34	0.387	0.16259	.	2.688260	0.01391	N	0.013250	T	0.55513	0.1925	N	0.14661	0.345	0.50632	D	0.999887	B	0.12013	0.005	B	0.04013	0.001	T	0.54344	-0.8308	10	0.15499	T	0.54	.	3.2607	0.06848	0.097:0.3375:0.4054:0.1601	.	202	Q03518	TAP1_HUMAN	I	202	ENSP00000346206:V202I	ENSP00000346206:V202I	V	-	1	0	TAP1	32928968	0.868000	0.29978	0.048000	0.18961	0.012000	0.07955	0.734000	0.26101	-0.139000	0.11414	-0.185000	0.12909	GTC		0.657	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	0	NM_000593		6:32820990
NOL4	8715	broad.mit.edu	37	18	31538269	31538269	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:31538269G>A	ENST00000261592.5	-	7	1467	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	NOL4_ENST00000538587.1_Silent_p.D316D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000535475.1_Silent_p.D235D|NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000535384.1_Silent_p.D105D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	390						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AATCGTCATGGTCCTCGTGGT	0.493																																						ENST00000261592.5		NA																	0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1168-1170)gaC>gaT		nucleolar protein 4							275.0	234.0	248.0					18																	31538269		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31538269G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1170C>T	18.37:g.31538269G>A		False	False		Somatic	0				NOL4_ENST00000535475.1_Silent_p.D235D|NOL4_ENST00000535384.1_Silent_p.D105D|NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D	p.D390D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	WXS	Illumina HiSeq	Phase_I	O94818	NOL4_HUMAN			7	1467	-			390					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1170C>T	CCDS11907.2																																																																																				0.493	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	NM_003787		18:31538269
CNBP	7555	broad.mit.edu	37	3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A	rs190320743		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448																																						ENST00000422453.2		NA																	0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(505-507)Cgg>Tgg		CCHC-type zinc finger, nucleic acid binding protein							177.0	165.0	169.0					3																	128889325		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128889325G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.505C>T	3.37:g.128889325G>A	ENSP00000410619:p.Arg169Trp	True	False		Somatic	0				CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W	p.R169W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	WXS	Illumina HiSeq	Phase_I	P62633	CNBP_HUMAN			5	665	-			169					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.505C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570676	0.65765	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.128051	0.52532	D	0.000070	D	0.83589	0.5287	M	0.82823	2.61	0.58432	D	0.999993	D;D;D	0.76494	0.994;0.993;0.999	P;P;D	0.72338	0.837;0.821;0.977	D	0.84859	0.0818	9	0.87932	D	0	-16.7435	18.1659	0.89727	0.0:0.0:1.0:0.0	.	152;162;169	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	W	162;169;170;164;152;159;171	.	ENSP00000410619:R169W	R	-	1	2	CNBP	130372015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.894000	0.99253	0.591000	0.81541	CGG		0.448	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	0	NM_003418		3:128889325
PCDHB13	56123	broad.mit.edu	37	5	140594777	140594777	+	Missense_Mutation	SNP	C	C	T	rs148992616		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:140594777C>T	ENST00000341948.4	+	1	1269	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A361V(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAACGCGCCTGAAACT	0.448																																						ENST00000341948.4		NA																	1	Substitution - Missense(1)	p.A361V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1081-1083)gCg>gTg									195.0	183.0	187.0					5																	140594777		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594777C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1082C>T	5.37:g.140594777C>T	ENSP00000345491:p.Ala361Val	False	False		Somatic	0					p.A361V	NM_018933.2	NP_061756.1	WXS	Illumina HiSeq	Phase_I	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1269	+			361			Cadherin 4.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1082C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	16.74	3.206586	0.58343	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.03663	3.85	3.5	2.59	0.31030	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.08447	0.0210	M	0.66506	2.035	0.09310	N	1	P	0.48911	0.917	P	0.49252	0.604	T	0.15752	-1.0426	9	0.66056	D	0.02	.	8.1381	0.31067	0.0:0.7799:0.0:0.2201	.	361	Q9Y5F0	PCDBD_HUMAN	V	361	ENSP00000345491:A361V	ENSP00000345491:A361V	A	+	2	0	PCDHB13	140574961	0.000000	0.05858	0.000000	0.03702	0.835000	0.47333	1.135000	0.31454	0.550000	0.28991	0.298000	0.19748	GCG		0.448	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	0	NM_018933		5:140594777
