#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SDF4	51150	broad.mit.edu	37	1	1158663	1158663	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr1:1158663C>T	ENST00000360001.6	-	4	800	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	SDF4_ENST00000545427.1_Missense_Mutation_p.A180T|SDF4_ENST00000263741.7_Missense_Mutation_p.A180T			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	180					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AGCCTGATGGCGTCGGCAACC	0.562																																							uc001adh.3		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(538-540)GCC>ACC		stromal cell derived factor 4 isoform 2							294.0	250.0	265.0					1																	1158663		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1158663C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.538G>A	1.37:g.1158663C>T	ENSP00000353094:p.Ala180Thr					SDF4_uc001adg.2_5'Flank|SDF4_uc001adi.3_Missense_Mutation_p.A180T|SDF4_uc009vjv.2_Missense_Mutation_p.A58T|SDF4_uc009vjw.2_RNA|SDF4_uc001adj.1_Missense_Mutation_p.A58T	p.A180T	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	4	867	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	180					B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.538G>A	CCDS30553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.581|9.581	1.123484|1.123484	0.20959|0.20959	.|.	.|.	ENSG00000078808|ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427|ENST00000403997	T;T;T|.	0.09163|.	3.01;3.01;3.01|.	4.59|4.59	3.53|3.53	0.40419|0.40419	EF-hand-like domain (1);|.	0.157235|.	0.53938|.	D|.	0.000042|.	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.14661|0.14661	0.345|0.345	0.28069|0.28069	N|N	0.932649|0.932649	P;P;B|.	0.49862|.	0.929;0.809;0.052|.	B;B;B|.	0.35655|.	0.08;0.207;0.008|.	T|T	0.20240|0.20240	-1.0281|-1.0281	10|5	0.12103|.	T|.	0.63|.	-21.5187|-21.5187	5.2809|5.2809	0.15674|0.15674	0.0:0.1701:0.0:0.8299|0.0:0.1701:0.0:0.8299	.|.	114;180;180|.	B1AME7;Q9BRK5-6;Q9BRK5|.	.;.;CAB45_HUMAN|.	T|H	180|114	ENSP00000353094:A180T;ENSP00000263741:A180T;ENSP00000444451:A180T|.	ENSP00000263741:A180T|.	A|R	-|-	1|2	0|0	SDF4|SDF4	1148526|1148526	1.000000|1.000000	0.71417|0.71417	0.005000|0.005000	0.12908|0.12908	0.005000|0.005000	0.04900|0.04900	4.105000|4.105000	0.57797|0.57797	0.722000|0.722000	0.32252|0.32252	0.543000|0.543000	0.68304|0.68304	GCC|CGC		0.562	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		20	111	0	0	0	0.000375601	0	20	111				
RUNX3	864	broad.mit.edu	37	1	25229017	25229017	+	Missense_Mutation	SNP	C	C	A	rs149811022		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr1:25229017C>A	ENST00000308873.6	-	5	852	c.844G>T	c.(844-846)Gcc>Tcc	p.A282S	RUNX3_ENST00000399916.1_Missense_Mutation_p.A296S|RUNX3_ENST00000338888.3_Missense_Mutation_p.A296S|RUNX3_ENST00000540420.1_Missense_Mutation_p.A189S|RUNX3_ENST00000496967.1_5'Flank	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	282	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGGGCGTGGCGCTGTAGGGG	0.692																																							uc001bjq.2		NA																	0					0						c.(844-846)GCC>TCC		runt-related transcription factor 3 isoform 2							44.0	51.0	49.0					1																	25229017		2202	4298	6500	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229017C>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.844G>T	1.37:g.25229017C>A	ENSP00000308051:p.Ala282Ser					RUNX3_uc010oen.1_Missense_Mutation_p.A229S|RUNX3_uc009vrj.2_Missense_Mutation_p.A296S|RUNX3_uc001bjr.2_Missense_Mutation_p.A296S|RUNX3_uc001bjs.2_RNA	p.A282S	NM_004350	NP_004341	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	5	1255	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	282			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.844G>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540802	0.45280	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.96992	-4.2;-4.19;-4.2;-3.83	4.1	3.03	0.35002	.	0.176586	0.49916	D	0.000121	D	0.92792	0.7708	L	0.54323	1.7	0.45295	D	0.998294	B;P;B	0.40909	0.012;0.732;0.199	B;B;B	0.36666	0.028;0.23;0.108	D	0.89605	0.3837	10	0.14656	T	0.56	-27.09	11.9749	0.53085	0.0:0.9066:0.0:0.0934	.	229;296;282	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	S	296;282;296;189;229	ENSP00000382800:A296S;ENSP00000308051:A282S;ENSP00000343477:A296S;ENSP00000444872:A189S	ENSP00000308051:A282S	A	-	1	0	RUNX3	25101604	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.606000	0.24194	0.913000	0.36797	0.456000	0.33151	GCC		0.692	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		24	66	1	0	4.72057e-08	0.000586117	7.69108e-07	24	66				
RCSD1	92241	broad.mit.edu	37	1	167654689	167654689	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr1:167654689C>T	ENST00000367854.3	+	3	471	c.140C>T	c.(139-141)cCg>cTg	p.P47L	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	47					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CGAAGGAAACCGCCCTGTTCC	0.577																																							uc001gem.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(139-141)CCG>CTG		RCSD domain containing 1							89.0	78.0	82.0					1																	167654689		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167654689C>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.140C>T	1.37:g.167654689C>T	ENSP00000356828:p.Pro47Leu					RCSD1_uc010pli.1_Intron	p.P47L	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN			3	327	+	all_hematologic(923;0.215)		47					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.140C>T	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434496	0.83776	.	.	ENSG00000198771	ENST00000367854;ENST00000361496	T	0.80653	-1.4	5.21	5.21	0.72293	.	0.068321	0.64402	D	0.000015	D	0.87545	0.6204	M	0.68952	2.095	0.38555	D	0.949563	D	0.89917	1.0	D	0.87578	0.998	D	0.88749	0.3249	9	0.87932	D	0	-13.2485	18.7685	0.91882	0.0:1.0:0.0:0.0	.	47	Q6JBY9	CPZIP_HUMAN	L	47	ENSP00000356828:P47L	ENSP00000355291:P47L	P	+	2	0	RCSD1	165921313	0.993000	0.37304	0.998000	0.56505	0.990000	0.78478	3.361000	0.52306	2.415000	0.81967	0.655000	0.94253	CCG		0.577	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		7	46	0	0	0	8.12818e-05	0	7	46				
TNR	7143	broad.mit.edu	37	1	175362964	175362964	+	Silent	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr1:175362964C>T	ENST00000367674.2	-	6	2016	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	TNR_ENST00000263525.2_Silent_p.E436E			Q92752	TENR_HUMAN	tenascin R	436	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGAGAAGGGCTCCCACTGCA	0.463																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1306-1308)GAG>GAA		tenascin R precursor							220.0	215.0	217.0					1																	175362964		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175362964C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1308G>A	1.37:g.175362964C>T						TNR_uc009wwu.1_Silent_p.E436E|TNR_uc010pmz.1_3'UTR	p.E436E	NM_003285	NP_003276	Q92752	TENR_HUMAN			4	1389	-	Renal(580;0.146)		436			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.1308G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874740	0.17395	.	.	ENSG00000116147	ENST00000422274	.	.	.	4.61	3.42	0.39159	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53099	-0.8486	4	.	.	.	.	7.1219	0.25450	0.0:0.7005:0.1673:0.1322	.	.	.	.	T	161	.	.	A	-	1	0	TNR	173629587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.662000	0.25038	2.255000	0.74692	0.643000	0.83706	GCC		0.463	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		15	173	0	0	0	0.000422831	0	15	173				
PPP1R12B	4660	broad.mit.edu	37	1	202391825	202391825	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr1:202391825C>T	ENST00000608999.1	+	3	653	c.500C>T	c.(499-501)cCa>cTa	p.P167L	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.P167L|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.P167L|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.P167L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAGAAGAGCCAGCCATGAAG	0.458																																							uc001gya.1		NA																	0				ovary(3)	3						c.(499-501)CCA>CTA		protein phosphatase 1, regulatory (inhibitor)							71.0	68.0	69.0					1																	202391825		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202391825C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.500C>T	1.37:g.202391825C>T	ENSP00000476755:p.Pro167Leu					PPP1R12B_uc001gxy.2_Missense_Mutation_p.P167L|PPP1R12B_uc009xad.1_Intron|PPP1R12B_uc009xae.1_Missense_Mutation_p.P167L|PPP1R12B_uc001gxz.1_Missense_Mutation_p.P167L	p.P167L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	644	+			167					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.500C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548821	0.45383	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.09	4.18	0.49190	Ankyrin repeat-containing domain (3);	0.102826	0.42821	D	0.000643	T	0.25531	0.0621	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.25312	0.001;0.046;0.123;0.0	B;B;B;B	0.30572	0.001;0.045;0.117;0.001	T	0.08680	-1.0710	10	0.44086	T	0.13	.	9.0251	0.36224	0.1457:0.7791:0.0:0.0752	.	167;167;167;167	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	L	167	ENSP00000384496:P167L;ENSP00000337897:P167L;ENSP00000417159:P167L;ENSP00000349206:P167L	ENSP00000337897:P167L	P	+	2	0	PPP1R12B	200658448	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.754000	0.55189	1.264000	0.44198	-0.216000	0.12614	CCA		0.458	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		13	61	0	0	0	0.000219431	0	13	61				
OR14C36	127066	broad.mit.edu	37	1	248512522	248512522	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr1:248512522G>A	ENST00000317861.1	+	1	446	c.446G>A	c.(445-447)aGt>aAt	p.S149N		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCCCTACTCAGTGGTCTTGTC	0.527																																							uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(445-447)AGT>AAT		olfactory receptor, family 14, subfamily C,							117.0	101.0	106.0					1																	248512522		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512522G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.446G>A	1.37:g.248512522G>A	ENSP00000324534:p.Ser149Asn						p.S149N	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	446	+			149			Helical; Name=4; (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.446G>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120161	0.56613	.	.	ENSG00000177174	ENST00000317861	T	0.37752	1.18	4.05	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.115641	0.37955	N	0.001864	T	0.54647	0.1871	M	0.81341	2.54	0.18873	N	0.999983	D	0.60575	0.988	D	0.66979	0.948	T	0.39683	-0.9602	10	0.52906	T	0.07	.	7.8287	0.29330	0.0:0.2775:0.5637:0.1588	.	149	Q8NHC7	O14CZ_HUMAN	N	149	ENSP00000324534:S149N	ENSP00000324534:S149N	S	+	2	0	OR14C36	246579145	0.000000	0.05858	0.993000	0.49108	0.846000	0.48090	0.142000	0.16096	2.130000	0.65690	0.395000	0.25975	AGT		0.527	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		5	66	0	0	0	0.000602214	0	5	66				
POLR3A	11128	broad.mit.edu	37	10	79779004	79779004	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr10:79779004T>C	ENST00000372371.3	-	9	1342	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	402					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCTCAAGAAATTGATGTTTGC	0.383																																							uc001jzn.2		NA																	0					0						c.(1204-1206)AAT>AGT		polymerase (RNA) III (DNA directed) polypeptide							145.0	131.0	136.0					10																	79779004		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79779004T>C	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1205A>G	10.37:g.79779004T>C	ENSP00000361446:p.Asn402Ser						p.N402S	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		9	1299	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		402					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1205A>G	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839856	0.32513	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67698	-0.28	5.51	1.94	0.25998	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.427833	0.29466	N	0.012061	T	0.47619	0.1455	N	0.20483	0.58	0.21719	N	0.999575	B	0.18741	0.03	B	0.20577	0.03	T	0.25641	-1.0126	9	.	.	.	-5.7205	11.067	0.47980	0.0:0.1958:0.0:0.8042	.	402	O14802	RPC1_HUMAN	S	402	ENSP00000361446:N402S	.	N	-	2	0	POLR3A	79449010	1.000000	0.71417	0.564000	0.28396	0.861000	0.49209	2.655000	0.46707	0.069000	0.16605	-1.481000	0.00988	AAT		0.383	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		9	50	0	0	0	0.000274275	0	9	50				
DMBT1	1755	broad.mit.edu	37	10	124339221	124339221	+	Silent	SNP	T	T	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr10:124339221T>C	ENST00000338354.3	+	10	913	c.807T>C	c.(805-807)aaT>aaC	p.N269N	DMBT1_ENST00000330163.4_Silent_p.N269N|DMBT1_ENST00000368909.3_Silent_p.N269N|DMBT1_ENST00000344338.3_Silent_p.N269N|DMBT1_ENST00000368955.3_Silent_p.N269N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.N269N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	269	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGATGCCAATGTGGTCTGCA	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(805-807)AAT>AAC		deleted in malignant brain tumors 1 isoform b							208.0	207.0	207.0					10																	124339221		1997	4165	6162	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339221T>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.807T>C	10.37:g.124339221T>C						DMBT1_uc001lgl.1_Silent_p.N269N|DMBT1_uc001lgm.1_Silent_p.N269N|DMBT1_uc009xzz.1_Silent_p.N269N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.N121N	p.N269N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	913	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	269			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.807T>C																																																																																					0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		20	289	0	0	0	0.000375601	0	20	289				
DMBT1	1755	broad.mit.edu	37	10	124339277	124339277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr10:124339277A>G	ENST00000338354.3	+	10	969	c.863A>G	c.(862-864)cAg>cGg	p.Q288R	DMBT1_ENST00000330163.4_Missense_Mutation_p.Q288R|DMBT1_ENST00000368909.3_Missense_Mutation_p.Q288R|DMBT1_ENST00000344338.3_Missense_Mutation_p.Q288R|DMBT1_ENST00000368955.3_Missense_Mutation_p.Q288R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.Q288R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	288	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCAGTTTGGCCAG	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(862-864)CAG>CGG		deleted in malignant brain tumors 1 isoform b							111.0	110.0	110.0					10																	124339277		1910	4109	6019	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339277A>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.863A>G	10.37:g.124339277A>G	ENSP00000342210:p.Gln288Arg					DMBT1_uc001lgl.1_Missense_Mutation_p.Q288R|DMBT1_uc001lgm.1_Missense_Mutation_p.Q288R|DMBT1_uc009xzz.1_Missense_Mutation_p.Q288R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.Q140R	p.Q288R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	969	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	288			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.863A>G		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.804512	0.00611	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.07	-6.06	0.02165	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.13329	0.0323	N	0.02192	-0.645	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.001;0.001;0.0;0.002;0.004	T	0.31251	-0.9950	9	0.14252	T	0.57	.	6.99	0.24750	0.6852:0.0923:0.1295:0.0929	.	288;288;288;288;288	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	R	288	ENSP00000342210:Q288R;ENSP00000343175:Q288R;ENSP00000327747:Q288R;ENSP00000357905:Q288R;ENSP00000357951:Q288R;ENSP00000357952:Q288R	ENSP00000331522:Q288R	Q	+	2	0	DMBT1	124329267	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	-0.728000	0.04925	-1.376000	0.02126	-1.572000	0.00871	CAG		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	172	0	0	0	0.000442599	0	7	172				
DMBT1	1755	broad.mit.edu	37	10	124339284	124339284	+	Silent	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr10:124339284C>T	ENST00000338354.3	+	10	976	c.870C>T	c.(868-870)ggC>ggT	p.G290G	DMBT1_ENST00000330163.4_Silent_p.G290G|DMBT1_ENST00000368909.3_Silent_p.G290G|DMBT1_ENST00000344338.3_Silent_p.G290G|DMBT1_ENST00000368955.3_Silent_p.G290G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.G290G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	290	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCAGTTTGGCCAGGGCTCAG	0.597																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(868-870)GGC>GGT		deleted in malignant brain tumors 1 isoform b							94.0	94.0	94.0					10																	124339284		1908	4098	6006	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339284C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.870C>T	10.37:g.124339284C>T						DMBT1_uc001lgl.1_Silent_p.G290G|DMBT1_uc001lgm.1_Silent_p.G290G|DMBT1_uc009xzz.1_Silent_p.G290G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.G142G	p.G290G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	976	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	290			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.870C>T																																																																																					0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	149	0	0	0	0.000274275	0	7	149				
DMBT1	1755	broad.mit.edu	37	10	124377716	124377716	+	Missense_Mutation	SNP	A	A	G	rs374308103		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr10:124377716A>G	ENST00000338354.3	+	38	4794	c.4688A>G	c.(4687-4689)cAg>cGg	p.Q1563R	DMBT1_ENST00000330163.4_Missense_Mutation_p.Q935R|DMBT1_ENST00000368909.3_Missense_Mutation_p.Q1563R|DMBT1_ENST00000344338.3_Missense_Mutation_p.Q1553R|DMBT1_ENST00000368955.3_Missense_Mutation_p.Q1553R|DMBT1_ENST00000359586.6_Missense_Mutation_p.Q414R|DMBT1_ENST00000368956.2_Missense_Mutation_p.Q935R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1563	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCAGTTTGGCCAG	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(4687-4689)CAG>CGG		deleted in malignant brain tumors 1 isoform b		G	ARG/GLN,ARG/GLN,ARG/GLN	0,3898		0,0,1949	159.0	162.0	161.0		2804,4688,4658	-1.4	0.0	10		161	1,8323		0,1,4161	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	43,43,43	0,1,6110	GG,GA,AA		0.012,0.0,0.0082	benign,benign,benign	935/1786,1563/2414,1553/2404	124377716	1,12221	1949	4162	6111	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124377716A>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4688A>G	10.37:g.124377716A>G	ENSP00000342210:p.Gln1563Arg					DMBT1_uc001lgl.1_Missense_Mutation_p.Q1553R|DMBT1_uc001lgm.1_Missense_Mutation_p.Q935R|DMBT1_uc009xzz.1_Missense_Mutation_p.Q1563R|DMBT1_uc010qtx.1_Missense_Mutation_p.Q414R|DMBT1_uc009yab.1_Missense_Mutation_p.Q266R|DMBT1_uc009yac.1_5'Flank	p.Q1563R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			38	4794	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1563			SRCR 12.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.4688A>G		.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058557	0.01950	0.0	1.2E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.12	-1.38	0.09027	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	6.912560	0.01159	N	0.006615	T	0.21881	0.0527	N	0.02192	-0.645	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.0;0.001;0.0;0.0;0.002	B;B;B;B;B;B	0.09377	0.0;0.001;0.002;0.001;0.0;0.004	T	0.27400	-1.0075	10	0.18276	T	0.48	.	13.0512	0.58957	0.6639:0.0:0.3361:0.0	.	414;812;1692;935;1553;1563	F8WEF7;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	R	1563;1692;1563;1563;1563;1563;935;1553;935;935;1563;1553;935;414	ENSP00000342210:Q1563R;ENSP00000343175:Q1553R;ENSP00000327747:Q935R;ENSP00000357905:Q1563R;ENSP00000357951:Q1553R;ENSP00000357952:Q935R;ENSP00000352593:Q414R	ENSP00000331522:Q935R	Q	+	2	0	DMBT1	124367706	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-1.188000	0.03064	-0.953000	0.03645	-1.026000	0.02426	CAG		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	229	0	0	0	0.000157383	0	5	229				
OR52E6	390078	broad.mit.edu	37	11	5862669	5862669	+	Silent	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr11:5862669C>T	ENST00000329322.5	-	1	458	c.459G>A	c.(457-459)agG>agA	p.R153R	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.R157R	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACAAGCTCCTCAGGACAG	0.483																																							uc010qzq.1		NA																	0				central_nervous_system(1)	1						c.(457-459)AGG>AGA		olfactory receptor, family 52, subfamily E,							178.0	163.0	168.0					11																	5862669		2201	4296	6497	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862669C>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.459G>A	11.37:g.5862669C>T						TRIM5_uc001mbq.1_Intron	p.R153R	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	459	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	153			Helical; Name=4; (Potential).		Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.459G>A	CCDS53597.1																																																																																				0.483	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		7	204	0	0	0	8.12818e-05	0	7	204				
LRP4	4038	broad.mit.edu	37	11	46880755	46880755	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr11:46880755G>A	ENST00000378623.1	-	38	5739	c.5497C>T	c.(5497-5499)Cgg>Tgg	p.R1833W	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1833					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGGCCCCCCCGTGAGCTTCGC	0.562																																							uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(5497-5499)CGG>TGG		low density lipoprotein receptor-related protein							104.0	96.0	99.0					11																	46880755		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880755G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5497C>T	11.37:g.46880755G>A	ENSP00000367888:p.Arg1833Trp					uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.R75W	p.R1833W	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5643	-			1833			Cytoplasmic (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.5497C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.832903	0.50951	.	.	ENSG00000134569	ENST00000378623	D	0.91351	-2.83	6.06	2.78	0.32641	.	0.000000	0.85682	D	0.000000	D	0.91307	0.7259	N	0.24115	0.695	0.49582	D	0.999809	D	0.89917	1.0	D	0.74023	0.982	D	0.92346	0.5885	10	0.87932	D	0	.	16.4993	0.84253	0.0:0.0:0.64:0.36	.	1833	O75096	LRP4_HUMAN	W	1833	ENSP00000367888:R1833W	ENSP00000367888:R1833W	R	-	1	2	LRP4	46837331	0.997000	0.39634	0.952000	0.39060	0.298000	0.27526	2.278000	0.43426	0.827000	0.34685	0.655000	0.94253	CGG		0.562	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		22	68	0	0	0	0.000295444	0	22	68				
LOC440040	440040	broad.mit.edu	37	11	49597962	49597962	+	RNA	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr11:49597962G>A	ENST00000527477.1	+	0	566																											TTCATGAGAGGAAGTGTGGGG	0.522																																							uc010rhy.1		NA																	0					0						c.(73-75)AGG>AGA		SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5;																																						440040							g.chr11:49597962G>A																													11.37:g.49597962G>A						LOC440040_uc009ymb.2_Silent_p.R25R	p.R25R	NR_027044						2	553	+									Silent	SNP	ENST00000527477.1	37	c.75G>A																																																																																					0.522	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			4	23	0	0	0	0.000602214	0	4	23				
PIWIL4	143689	broad.mit.edu	37	11	94316616	94316616	+	Silent	SNP	C	C	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr11:94316616C>A	ENST00000299001.6	+	5	727	c.516C>A	c.(514-516)gtC>gtA	p.V172V	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	172					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTCCCAGGTCACAGAGTTGT	0.418																																							uc001pfa.2		NA																	0				skin(1)	1						c.(514-516)GTC>GTA		piwi-like 4							175.0	176.0	176.0					11																	94316616		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94316616C>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.516C>A	11.37:g.94316616C>A						PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.V172V	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			5	727	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	172					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.516C>A	CCDS31656.1																																																																																				0.418	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		32	186	1	0	1.80694e-10	0.000279167	3.0176e-09	32	186				
OVOS2	144203	broad.mit.edu	37	12	31307356	31307356	+	IGR	SNP	T	T	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr12:31307356T>C								RP11-551L14.1 (36951 upstream) : FAM60A (126161 downstream)														p.K242E(2)									ATTTGGGTTTTCCCTTGCACA	0.383																																							uc010sjy.1		NA																	2	Substitution - Missense(2)		lung(2)		NA						c.(724-726)AAA>GAA		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							69.0	69.0	69.0					12																	31307356		1841	4091	5932	SO:0001628	intergenic_variant	0							g.chr12:31307356T>C																													12.37:g.31307356T>C							p.K242E							7	724	-									Missense_Mutation	SNP		37	c.724A>G																																																																																				0	0.383									4	18	0	0	0	0.00024832	0	4	18				
CDK4	1019	broad.mit.edu	37	12	58145430	58145430	+	Missense_Mutation	SNP	C	C	A	rs104894340		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr12:58145430C>A	ENST00000257904.6	-	2	436	c.71G>T	c.(70-72)cGt>cTt	p.R24L	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.R24L	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328). {ECO:0000269|PubMed:7652577, ECO:0000269|PubMed:8528263}.|R -> H (in CMM3). {ECO:0000269|PubMed:9425228}.		cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R24L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTGGGGATCACGGGCCTTGTA	0.557			Mis			melanoma			Hereditary Melanoma																														uc001spv.2		NA	yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma 			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|central_nervous_system(1)	3	GRCh37	CM980320	CDK4	M	rs104894340	c.(70-72)CGT>CTT		cyclin-dependent kinase 4							75.0	73.0	74.0					12																	58145430		2203	4300	6503	SO:0001583	missense	1019	Hereditary_Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58145430C>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.71G>T	12.37:g.58145430C>A	ENSP00000257904:p.Arg24Leu					CDK4_uc010ssb.1_5'UTR|CDK4_uc001spw.2_RNA|uc010ssc.1_RNA	p.R24L	NM_000075	NP_000066	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	298	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		24		R -> H (in CMM3).	Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.71G>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574841	0.96553	.	.	ENSG00000135446	ENST00000257904;ENST00000312990;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T	0.43688	0.96;0.94;2.05;2.05;2.05	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	L	0.38733	1.17	0.80722	D	1	D	0.53151	0.958	P	0.54026	0.74	T	0.44251	-0.9340	10	0.54805	T	0.06	.	17.9543	0.89063	0.0:1.0:0.0:0.0	.	24	P11802	CDK4_HUMAN	L	24	ENSP00000257904:R24L;ENSP00000316889:R24L;ENSP00000449179:R24L;ENSP00000448963:R24L;ENSP00000446763:R24L	ENSP00000257904:R24L	R	-	2	0	CDK4	56431697	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.640000	0.67875	2.855000	0.98099	0.655000	0.94253	CGT		0.557	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		13	29	1	0	4.3838e-07	0.000151284	6.97233e-06	13	29				
SVOP	55530	broad.mit.edu	37	12	109309580	109309580	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr12:109309580G>C	ENST00000299134.5	-	13	1222	c.1223C>G	c.(1222-1224)tCa>tGa	p.S408*		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						ACGGAGTGATGAGAGCACCCA	0.612																																							uc010sxh.1		NA																	0					0						c.(1417-1419)CTC>CTG		SV2 related protein							32.0	37.0	35.0					12																	109309580		2075	4200	6275	SO:0001587	stop_gained	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109309580G>C	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.1223C>G	12.37:g.109309580G>C	ENSP00000299134:p.Ser408*						p.L473L	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			14	1591	-			473			Helical; (Potential).		Q9NPW5	Silent	SNP	ENST00000299134.5	37	c.1419C>G		.	.	.	.	.	.	.	.	.	.	G	10.13	1.265437	0.23136	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.8	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.8801	9.0425	0.36327	0.0736:0.0:0.7804:0.1459	.	.	.	.	X	408	.	.	S	-	2	0	SVOP	107833709	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.471000	0.22100	1.454000	0.47793	0.655000	0.94253	TCA		0.612	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		4	14	0	0	0	0.000602214	0	4	14				
HVCN1	84329	broad.mit.edu	37	12	111099246	111099246	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr12:111099246G>A	ENST00000356742.5	-	3	782	c.29C>T	c.(28-30)aCc>aTc	p.T10I	HVCN1_ENST00000439744.2_5'UTR|HVCN1_ENST00000242607.8_Missense_Mutation_p.T10I|HVCN1_ENST00000548312.1_Missense_Mutation_p.T10I			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	10					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGCCCTGCGGGTGACTGCCTA	0.602																																							uc001trs.1		NA																	0				skin(1)	1						c.(28-30)ACC>ATC		hydrogen voltage-gated channel 1							47.0	44.0	45.0					12																	111099246		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099246G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.29C>T	12.37:g.111099246G>A	ENSP00000349181:p.Thr10Ile					HVCN1_uc001trq.1_Missense_Mutation_p.T10I|HVCN1_uc001trt.1_Missense_Mutation_p.T10I|HVCN1_uc010syd.1_5'UTR	p.T10I	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			4	194	-			10			Cytoplasmic (Potential).		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.29C>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	g	15.46	2.839936	0.51057	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000546713	T;T;T	0.52526	0.67;0.66;0.66	4.2	2.33	0.28932	.	0.513993	0.18052	N	0.153255	T	0.49508	0.1561	M	0.63428	1.95	0.80722	D	1	P;P	0.48503	0.856;0.911	B;P	0.49999	0.31;0.628	T	0.49273	-0.8957	10	0.72032	D	0.01	-29.972	5.5955	0.17325	0.1113:0.2287:0.66:0.0	.	10;10	Q96D96;Q96D96-3	HVCN1_HUMAN;.	I	10	ENSP00000449601:T10I;ENSP00000242607:T10I;ENSP00000349181:T10I	ENSP00000242607:T10I	T	-	2	0	HVCN1	109583629	0.987000	0.35691	0.604000	0.28916	0.945000	0.59286	1.375000	0.34295	0.690000	0.31570	0.457000	0.33378	ACC		0.602	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		5	25	0	0	0	0.000602214	0	5	25				
DIAPH3	81624	broad.mit.edu	37	13	60545013	60545013	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr13:60545013G>C	ENST00000400324.4	-	16	2152	c.1932C>G	c.(1930-1932)atC>atG	p.I644M	DIAPH3_ENST00000400330.1_Missense_Mutation_p.I644M|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I598M|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I633M|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I574M|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I644M	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	644	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCTCATGCTGATTTCAGGTT	0.338																																							uc001vht.2		NA																	0				ovary(2)	2						c.(1930-1932)ATC>ATG		diaphanous homolog 3 isoform a							44.0	45.0	44.0					13																	60545013		1810	4074	5884	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60545013G>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1932C>G	13.37:g.60545013G>C	ENSP00000383178:p.Ile644Met					DIAPH3_uc001vhu.2_Missense_Mutation_p.I381M|DIAPH3_uc001vhv.2_Missense_Mutation_p.I222M	p.I644M	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	16	2151	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	644			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1932C>G	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	9.050	0.991957	0.18966	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	5.27	2.6	0.31112	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.518451	0.21426	N	0.074730	T	0.17280	0.0415	L	0.29908	0.895	0.09310	N	0.999999	P;B;P	0.44195	0.828;0.012;0.602	P;B;P	0.48524	0.532;0.037;0.58	T	0.08911	-1.0699	10	0.33141	T	0.24	.	10.7796	0.46369	0.363:0.0:0.637:0.0	.	381;381;644	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	M	644;644;633;598;574;633;574;598;644;381;644	ENSP00000383178:I644M;ENSP00000383184:I644M;ENSP00000367141:I633M;ENSP00000383173:I574M;ENSP00000383174:I598M;ENSP00000267215:I644M	ENSP00000267214:I381M	I	-	3	3	DIAPH3	59443014	0.998000	0.40836	0.950000	0.38849	0.926000	0.56050	1.113000	0.31184	-0.001000	0.14495	-1.814000	0.00607	ATC		0.338	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		5	40	0	0	0	8.12818e-05	0	5	40				
IPO4	79711	broad.mit.edu	37	14	24652208	24652208	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr14:24652208C>T	ENST00000354464.6	-	23	2571	c.2395G>A	c.(2395-2397)Gtg>Atg	p.V799M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	799					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCCTTGAGCACGCCACAGAGC	0.677																																							uc001wmv.1		NA																	0				kidney(1)	1						c.(2395-2397)GTG>ATG		importin 4							37.0	44.0	42.0					14																	24652208		2137	4241	6378	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24652208C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2395G>A	14.37:g.24652208C>T	ENSP00000346453:p.Val799Met					IPO4_uc001wmt.1_Missense_Mutation_p.V277M|IPO4_uc001wmu.2_Missense_Mutation_p.V461M|IPO4_uc001wmx.1_Missense_Mutation_p.V663M|IPO4_uc001wmy.1_Missense_Mutation_p.V663M|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.V799M	p.V799M	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	23	2526	-			799					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.2395G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	5.781	0.328527	0.10956	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.66995	-0.24	5.89	-6.73	0.01749	Armadillo-like helical (1);Armadillo-type fold (2);	0.544065	0.18231	N	0.147565	T	0.54663	0.1872	M	0.62723	1.935	0.09310	N	0.999996	B;B	0.18610	0.004;0.029	B;B	0.12156	0.004;0.007	T	0.32903	-0.9889	10	0.34782	T	0.22	-0.6757	11.4114	0.49927	0.0:0.6257:0.0976:0.2767	.	799;799	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	M	799;475	ENSP00000346453:V799M	ENSP00000346453:V799M	V	-	1	0	IPO4	23722048	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.563000	0.05943	-1.479000	0.01867	-0.294000	0.09567	GTG		0.677	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		15	56	0	0	0	0.000219431	0	15	56				
G2E3	55632	broad.mit.edu	37	14	31077238	31077238	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr14:31077238A>G	ENST00000206595.6	+	12	1617	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	G2E3_ENST00000553504.1_Missense_Mutation_p.D518G|G2E3_ENST00000438909.2_Missense_Mutation_p.D442G	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	488	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTTTAGATGATGTTTCAGAC	0.343																																							uc001wqk.2		NA																	0				ovary(2)|skin(1)	3						c.(1462-1464)GAT>GGT		G2/M-phase specific E3 ubiquitin ligase							142.0	130.0	134.0					14																	31077238		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31077238A>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1463A>G	14.37:g.31077238A>G	ENSP00000206595:p.Asp488Gly					G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Missense_Mutation_p.D442G	p.D488G	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			12	1617	+			488			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.1463A>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749540	0.89753	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.59364	0.27;0.27;0.27	5.43	5.43	0.79202	HECT (2);	0.046066	0.85682	D	0.000000	T	0.75155	0.3811	M	0.71581	2.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.78283	-0.2264	10	0.72032	D	0.01	-27.027	15.4777	0.75497	1.0:0.0:0.0:0.0	.	488	Q7L622	G2E3_HUMAN	G	488;442;518	ENSP00000206595:D488G;ENSP00000391068:D442G;ENSP00000451653:D518G	ENSP00000206595:D488G	D	+	2	0	G2E3	30146989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.865000	0.87049	2.031000	0.59945	0.482000	0.46254	GAT		0.343	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		10	106	0	0	0	0.000151284	0	10	106				
GNPNAT1	64841	broad.mit.edu	37	14	53250176	53250176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr14:53250176G>C	ENST00000216410.3	-	3	369	c.182C>G	c.(181-183)aCa>aGa	p.T61R	GNPNAT1_ENST00000554230.1_5'UTR|RN7SL588P_ENST00000583393.1_RNA	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	61	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TCCAGTCTCTGTTAGCTGACC	0.318																																							uc001xab.2		NA																	0					0						c.(181-183)ACA>AGA		glucosamine-phosphate N-acetyltransferase 1							67.0	68.0	67.0					14																	53250176		2203	4299	6502	SO:0001583	missense	64841				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53250176G>C	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.182C>G	14.37:g.53250176G>C	ENSP00000216410:p.Thr61Arg						p.T61R	NM_198066	NP_932332	Q96EK6	GNA1_HUMAN			3	437	-	Breast(41;0.176)		61			N-acetyltransferase.	Substrate.		Missense_Mutation	SNP	ENST00000216410.3	37	c.182C>G	CCDS9712.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456978	0.84317	.	.	ENSG00000100522	ENST00000216410;ENST00000557604	.	.	.	5.37	5.37	0.77165	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.84588	0.0665	9	0.52906	T	0.07	-9.0216	19.466	0.94939	0.0:0.0:1.0:0.0	.	61	Q96EK6	GNA1_HUMAN	R	61	.	ENSP00000216410:T61R	T	-	2	0	GNPNAT1	52319926	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.941000	0.87700	2.661000	0.90470	0.460000	0.39030	ACA		0.318	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			3	95	0	0	0	0.000602214	0	3	95				
SLC38A6	145389	broad.mit.edu	37	14	61446337	61446337	+	5'Flank	SNP	T	T	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr14:61446337T>C	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|SLC38A6_ENST00000456840.2_5'Flank|TRMT5_ENST00000261249.6_Silent_p.T93T|RP11-193F5.1_ENST00000553946.1_RNA	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GAATGTTGACTGTCTTTTTAA	0.423																																							uc001xff.3		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(277-279)ACA>ACG		tRNA methyltransferase 5							204.0	205.0	204.0					14																	61446337		2203	4300	6503	SO:0001631	upstream_gene_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61446337T>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446337T>C	Exception_encountered					SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	p.T93T	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	2	370	-			93					C9JWA6|Q86SY5	Silent	SNP	ENST00000267488.4	37	c.279A>G	CCDS9751.1																																																																																				0.423	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			15	192	0	0	0	0.000566183	0	15	192				
ATG2B	55102	broad.mit.edu	37	14	96811066	96811066	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr14:96811066A>C	ENST00000359933.4	-	4	1399	c.506T>G	c.(505-507)aTa>aGa	p.I169R		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	169					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AACAGTATCTATAAAAGTGAC	0.294																																							uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(505-507)ATA>AGA		ATG2 autophagy related 2 homolog B							50.0	47.0	48.0					14																	96811066		1798	4052	5850	SO:0001583	missense	55102							g.chr14:96811066A>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.506T>G	14.37:g.96811066A>C	ENSP00000353010:p.Ile169Arg						p.I169R	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	4	871	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	169					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.506T>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698154	0.88830	.	.	ENSG00000066739	ENST00000359933	T	0.55052	0.54	5.66	5.66	0.87406	.	0.690425	0.13148	U	0.410124	T	0.45875	0.1364	L	0.42245	1.32	0.53688	D	0.999978	P	0.43169	0.8	B	0.37833	0.259	T	0.34950	-0.9808	10	0.18276	T	0.48	.	16.2026	0.82095	1.0:0.0:0.0:0.0	.	169	Q96BY7	ATG2B_HUMAN	R	169	ENSP00000353010:I169R	ENSP00000353010:I169R	I	-	2	0	ATG2B	95880819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.808000	0.91939	2.285000	0.76669	0.533000	0.62120	ATA		0.294	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		6	32	0	0	0	0.000274275	0	6	32				
RAB40C	57799	broad.mit.edu	37	16	675984	675984	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr16:675984C>T	ENST00000248139.3	+	5	631	c.428C>T	c.(427-429)gCg>gTg	p.A143V	RAB40C_ENST00000538492.1_Missense_Mutation_p.A143V|RAB40C_ENST00000539661.1_Missense_Mutation_p.A143V|RAB40C_ENST00000535977.1_Missense_Mutation_p.A143V	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	143					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CAGGCCCGCGCGTACGCAGAG	0.617																																					Melanoma(123;1631 1690 28262 44104 44957)	Melanoma(123;1631 1690 28262 44104 44957)	uc002chr.2		NA																	0					0						c.(427-429)GCG>GTG		RAB40C, member RAS oncogene family							73.0	63.0	66.0					16																	675984		2201	4300	6501	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:675984C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.428C>T	16.37:g.675984C>T	ENSP00000248139:p.Ala143Val					RAB40C_uc002chq.2_Missense_Mutation_p.A124V	p.A143V	NM_021168	NP_066991	Q96S21	RB40C_HUMAN			5	544	+		Hepatocellular(780;0.0218)	143					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.428C>T	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822505	0.50739	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.052990	0.85682	D	0.000000	T	0.71358	0.3330	L	0.47716	1.5	0.58432	D	0.999995	B;P	0.34462	0.283;0.454	B;B	0.33454	0.164;0.075	T	0.73833	-0.3858	10	0.59425	D	0.04	.	12.8172	0.57671	0.1634:0.8366:0.0:0.0	.	143;124	Q96S21;Q5PXE8	RB40C_HUMAN;.	V	143	ENSP00000438492:A143V;ENSP00000445050:A143V;ENSP00000438382:A143V;ENSP00000248139:A143V	ENSP00000248139:A143V	A	+	2	0	RAB40C	615985	1.000000	0.71417	0.882000	0.34594	0.007000	0.05969	5.918000	0.69996	2.438000	0.82558	0.561000	0.74099	GCG		0.617	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		11	31	0	0	0	6.40141e-05	0	11	31				
CPPED1	55313	broad.mit.edu	37	16	12875100	12875100	+	Missense_Mutation	SNP	C	C	G	rs372772880		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr16:12875100C>G	ENST00000381774.4	-	2	471	c.231G>C	c.(229-231)aaG>aaC	p.K77N	CPPED1_ENST00000433677.2_Missense_Mutation_p.K77N|CPPED1_ENST00000261660.4_Missense_Mutation_p.K77N	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	77	Catalytic.			K -> E (in Ref. 2; BAA92034). {ECO:0000305}.		cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGGGTTCAGCTTGTTGATGG	0.562																																							uc002dca.3		NA																	0					0						c.(229-231)AAG>AAC		calcineurin-like phosphoesterase domain							118.0	125.0	123.0					16																	12875100		2080	4208	6288	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12875100C>G	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.231G>C	16.37:g.12875100C>G	ENSP00000371193:p.Lys77Asn					CPPED1_uc002dcb.3_Missense_Mutation_p.K77N	p.K77N	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			2	342	-			77	K -> E (in Ref. 2; BAA92034).				B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.231G>C	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277145	0.40294	.	.	ENSG00000103381	ENST00000381774;ENST00000433677;ENST00000261660	T;T;T	0.69561	-0.41;-0.41;-0.41	5.25	3.31	0.37934	Metallophosphoesterase domain (1);	0.462912	0.25375	N	0.031132	T	0.64746	0.2626	M	0.63843	1.955	0.36862	D	0.888462	B;B	0.34329	0.449;0.177	B;B	0.38106	0.265;0.213	T	0.68663	-0.5349	10	0.59425	D	0.04	-14.6492	10.6828	0.45823	0.0:0.8708:0.0:0.1292	.	77;77	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	N	77	ENSP00000371193:K77N;ENSP00000411127:K77N;ENSP00000261660:K77N	ENSP00000261660:K77N	K	-	3	2	CPPED1	12782601	0.767000	0.28508	0.954000	0.39281	0.870000	0.49936	-0.045000	0.12003	0.616000	0.30141	0.563000	0.77884	AAG		0.562	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		3	41	0	0	0	6.4e-05	0	3	41				
CACNG3	10368	broad.mit.edu	37	16	24268206	24268206	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr16:24268206C>G	ENST00000005284.3	+	1	1333	c.131C>G	c.(130-132)tCt>tGt	p.S44C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	44					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGGACTAAATCTACAAGTGAT	0.453																																							uc002dmf.2		NA																	0					0						c.(130-132)TCT>TGT		voltage-dependent calcium channel gamma-3							151.0	144.0	147.0					16																	24268206		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24268206C>G	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.131C>G	16.37:g.24268206C>G	ENSP00000005284:p.Ser44Cys						p.S44C	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	1	1331	+			44						Missense_Mutation	SNP	ENST00000005284.3	37	c.131C>G	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921842	0.52653	.	.	ENSG00000006116	ENST00000005284	T	0.58210	0.35	5.49	5.49	0.81192	.	0.188845	0.46758	D	0.000267	T	0.68513	0.3009	M	0.61703	1.905	0.47441	D	0.999425	D	0.71674	0.998	P	0.62649	0.905	T	0.66448	-0.5921	10	0.45353	T	0.12	-9.6044	18.1171	0.89559	0.0:1.0:0.0:0.0	.	44	O60359	CCG3_HUMAN	C	44	ENSP00000005284:S44C	ENSP00000005284:S44C	S	+	2	0	CACNG3	24175707	0.011000	0.17503	1.000000	0.80357	0.998000	0.95712	1.413000	0.34725	2.865000	0.98341	0.655000	0.94253	TCT		0.453	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		3	86	0	0	0	0.00024832	0	3	86				
SH2B1	25970	broad.mit.edu	37	16	28855408	28855408	+	5'Flank	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr16:28855408G>A	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Missense_Mutation_p.H313Y|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AGGCTCTTGTGGAACATCTCA	0.622																																							uc002drh.2		NA																	0				ovary(1)	1						c.(937-939)CAC>TAC		Tu translation elongation factor, mitochondrial							51.0	56.0	54.0					16																	28855408		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28855408G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855408G>A	Exception_encountered					uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	p.H313Y	NM_003321	NP_003312	P49411	EFTU_HUMAN			8	1076	-			310					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.937C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740464	0.89573	.	.	ENSG00000178952	ENST00000313511	T	0.66099	-0.19	6.02	6.02	0.97574	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.044183	0.85682	D	0.000000	D	0.83834	0.5340	M	0.90019	3.08	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.86002	0.1495	10	0.87932	D	0	-28.4296	19.3122	0.94192	0.0:0.0:1.0:0.0	.	310	P49411	EFTU_HUMAN	Y	313	ENSP00000322439:H313Y	ENSP00000322439:H313Y	H	-	1	0	TUFM	28762909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.378000	0.90144	2.865000	0.98341	0.655000	0.94253	CAC		0.622	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		11	62	0	0	0	0.000673444	0	11	62				
CDYL2	124359	broad.mit.edu	37	16	80718848	80718848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr16:80718848G>C	ENST00000570137.2	-	2	358	c.203C>G	c.(202-204)tCa>tGa	p.S68*	CDYL2_ENST00000562812.1_Nonsense_Mutation_p.S68*|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.S68*|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.S68*|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	68						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTGCTTCCCTGACTTGATCCT	0.547																																							uc002ffs.2		NA																	0				central_nervous_system(1)	1						c.(202-204)TCA>TGA		chromodomain protein, Y-like 2							143.0	117.0	126.0					16																	80718848		2203	4300	6503	SO:0001587	stop_gained	124359					nucleus	catalytic activity|protein binding	g.chr16:80718848G>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.203C>G	16.37:g.80718848G>C	ENSP00000476295:p.Ser68*						p.S68*	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			2	308	-			68					Q7Z5I8	Nonsense_Mutation	SNP	ENST00000570137.2	37	c.203C>G	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721113	0.89205	.	.	ENSG00000166446	ENST00000299564	.	.	.	5.08	5.08	0.68730	.	1.272640	0.05147	N	0.495378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	8.6743	0.34170	0.0:0.1517:0.6688:0.1795	.	.	.	.	X	68	.	ENSP00000299564:S68X	S	-	2	0	CDYL2	79276349	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	3.873000	0.56093	2.636000	0.89361	0.655000	0.94253	TCA		0.547	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		22	74	0	0	0	0.000586117	0	22	74				
FLOT2	2319	broad.mit.edu	37	17	27208290	27208290	+	Missense_Mutation	SNP	G	G	A	rs374687353		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr17:27208290G>A	ENST00000394908.4	-	9	1122	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	FLOT2_ENST00000394906.2_Missense_Mutation_p.R395W|FLOT2_ENST00000585169.1_Missense_Mutation_p.R340W|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	340					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGCTTCATCCGCTCAGCCTCT	0.612																																							uc002hdc.2		NA																	0					0						c.(1018-1020)CGG>TGG		flotillin 2		G	TRP/ARG	1,4203		0,1,2101	65.0	70.0	68.0		1018	5.8	1.0	17		68	0,8446		0,0,4223	no	missense	FLOT2	NM_004475.2	101	0,1,6324	AA,AG,GG		0.0,0.0238,0.0079	probably-damaging	340/429	27208290	1,12649	2102	4223	6325	SO:0001583	missense	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208290G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1018C>T	17.37:g.27208290G>A	ENSP00000378368:p.Arg340Trp						p.R340W	NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		9	1141	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		340						Missense_Mutation	SNP	ENST00000394908.4	37	c.1018C>T	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569100	0.86439	2.38E-4	0.0	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.24350	1.86;1.86	5.77	5.77	0.91146	.	0.097672	0.64402	D	0.000002	T	0.42720	0.1215	M	0.82517	2.595	0.50171	D	0.999854	D	0.65815	0.995	P	0.52343	0.696	T	0.46803	-0.9165	10	0.87932	D	0	-27.4603	9.5488	0.39297	0.0:0.1335:0.6062:0.2603	.	340	Q14254	FLOT2_HUMAN	W	395;340	ENSP00000378366:R395W;ENSP00000378368:R340W	ENSP00000378366:R395W	R	-	1	2	FLOT2	24232416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.819000	0.48049	2.744000	0.94065	0.561000	0.74099	CGG		0.612	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		9	39	0	0	0	0.000673444	0	9	39				
LRRC37A4P	55073	broad.mit.edu	37	17	43617325	43617325	+	IGR	SNP	A	A	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr17:43617325A>T								RP11-798G7.5 (5249 upstream) : RP11-798G7.6 (5940 downstream)																							TTGCAGGATAAATCTCTAGGA	0.264																																							uc002ijh.2		NA																	0					NA						c.(1060-1062)TTA>ATA		Homo sapiens cDNA FLJ45049 fis, clone BRAWH3022347.																																				SO:0001628	intergenic_variant	0							g.chr17:43617325A>T																													17.37:g.43617325A>T						uc010wjv.1_RNA	p.L354I							4	1181	-									Missense_Mutation	SNP		37	c.1060T>A																																																																																				0	0.264									6	88	0	0	0	8.12818e-05	0	6	88				
CACNA1G	8913	broad.mit.edu	37	17	48655855	48655855	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr17:48655855A>G	ENST00000359106.5	+	9	2231	c.2231A>G	c.(2230-2232)tAc>tGc	p.Y744C	CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y744C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y744C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y744C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y744C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y744C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y744C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y744C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	744					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACAGCAAGTACTTTGGCCGG	0.592																																							uc002irk.1		NA																	0				breast(1)	1						c.(2230-2232)TAC>TGC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						77.0	80.0	79.0					17																	48655855		2047	4212	6259	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655855A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2231A>G	17.37:g.48655855A>G	ENSP00000352011:p.Tyr744Cys					CACNA1G_uc002iri.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irj.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irl.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irm.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irn.1_Missense_Mutation_p.Y744C|CACNA1G_uc002iro.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irp.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irq.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irr.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irs.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irt.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irv.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irw.1_Missense_Mutation_p.Y744C|CACNA1G_uc002iru.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irx.1_Missense_Mutation_p.Y657C|CACNA1G_uc002iry.1_Missense_Mutation_p.Y657C|CACNA1G_uc002irz.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isa.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isb.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isc.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isd.1_Missense_Mutation_p.Y657C|CACNA1G_uc002ise.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isf.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isg.1_Missense_Mutation_p.Y657C|CACNA1G_uc002ish.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isi.1_Missense_Mutation_p.Y657C	p.Y744C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2603	+	Breast(11;6.7e-17)		744			Helical; Name=S1 of repeat II; (Potential).|II.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.2231A>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	21.4	4.144622	0.77888	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	M	0.62209	1.925	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.995;1.0;0.999;0.998;0.998;0.998;0.997;0.999;0.997;0.99;0.999;1.0;1.0;0.999;0.997;0.997;0.999;0.999;0.998;0.999;0.993;1.0;0.999;1.0;0.995;1.0	D	0.98925	1.0785	10	0.87932	D	0	.	14.676	0.68981	1.0:0.0:0.0:0.0	.	744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744;744	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	C	744	ENSP00000353990:Y744C;ENSP00000339302:Y744C;ENSP00000392390:Y744C;ENSP00000347078:Y744C;ENSP00000409759:Y744C;ENSP00000425522:Y744C;ENSP00000426261:Y744C;ENSP00000425451:Y744C;ENSP00000422407:Y744C;ENSP00000426814:Y744C;ENSP00000427238:Y744C;ENSP00000423112:Y744C;ENSP00000420918:Y744C;ENSP00000426172:Y744C;ENSP00000423045:Y744C;ENSP00000427173:Y744C;ENSP00000426098:Y744C;ENSP00000425698:Y744C;ENSP00000426232:Y744C;ENSP00000423317:Y744C;ENSP00000350979:Y744C;ENSP00000352011:Y744C;ENSP00000414388:Y744C;ENSP00000423155:Y744C;ENSP00000422268:Y744C;ENSP00000421518:Y744C	ENSP00000339302:Y744C	Y	+	2	0	CACNA1G	46010854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	1.874000	0.54306	0.533000	0.62120	TAC		0.592	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		6	66	0	0	0	3.59834e-05	0	6	66				
DSG3	1830	broad.mit.edu	37	18	29044158	29044158	+	Nonsense_Mutation	SNP	C	C	T	rs540587123		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr18:29044158C>T	ENST00000257189.4	+	9	1167	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	362	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTTATCTCTCGATACCGAGT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19180	0.0		0.0	False		,,,				2504	0.001						uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1084-1086)CGA>TGA		desmoglein 3 preproprotein							87.0	83.0	84.0					18																	29044158		2203	4300	6503	SO:0001587	stop_gained	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29044158C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1084C>T	18.37:g.29044158C>T	ENSP00000257189:p.Arg362*						p.R362*	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		9	1193	+			362			Cadherin 3.|Extracellular (Potential).		A8K2V2	Nonsense_Mutation	SNP	ENST00000257189.4	37	c.1084C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106835	0.77096	.	.	ENSG00000134757	ENST00000257189	.	.	.	6.07	4.24	0.50183	.	0.274250	0.25692	N	0.028940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	10.6938	0.45886	0.2849:0.5907:0.1244:0.0	.	.	.	.	X	362	.	ENSP00000257189:R362X	R	+	1	2	DSG3	27298156	0.000000	0.05858	0.746000	0.31095	0.023000	0.10783	-0.061000	0.11693	0.825000	0.34637	-0.274000	0.10170	CGA		0.378	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		13	45	0	0	0	0.000219431	0	13	45				
KIR3DL1	3811	broad.mit.edu	37	19	55344253	55344253	+	IGR	SNP	G	G	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr19:55344253G>T	ENST00000391728.4	+	0	1871				KIR3DL1_ENST00000402254.2_Intron|KIR2DS4_ENST00000339924.8_RNA	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGCGTGTGTTGGTGAGTCCTG	0.612																																							uc002qhm.1		NA																	0					0						c.(34-36)GGG>TGG		killer cell immunoglobulin-like receptor, two							185.0	171.0	176.0					19																	55344253		2172	4175	6347	SO:0001628	intergenic_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55344253G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933		19.37:g.55344253G>T						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.G12W	p.G12W	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	1	80	+			12					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.34G>T	CCDS42621.1																																																																																				0.612	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		10	155	1	0	1.58986e-06	0.000673444	2.49889e-05	10	155				
PRKD3	23683	broad.mit.edu	37	2	37543552	37543552	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:37543552C>T	ENST00000379066.1	-	2	878	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	PRKD3_ENST00000234179.2_Missense_Mutation_p.R39Q|PRKD3_ENST00000477132.1_5'Flank			O94806	KPCD3_HUMAN	protein kinase D3	39					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATTAGAGAGTCGGGCAGAGAG	0.517																																					Melanoma(80;621 1355 8613 11814 51767)	Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(115-117)CGA>CAA		protein kinase D3							85.0	82.0	83.0					2																	37543552		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37543552C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.116G>A	2.37:g.37543552C>T	ENSP00000368356:p.Arg39Gln					PRKD3_uc002rqf.1_Missense_Mutation_p.R39Q	p.R39Q	NM_005813	NP_005804	O94806	KPCD3_HUMAN			1	671	-		all_hematologic(82;0.21)	39					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.116G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644241	0.87859	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.65916	-0.18;-0.18	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	L	0.47716	1.5	0.58432	D	0.999995	D;P	0.61697	0.99;0.847	P;B	0.47981	0.563;0.072	T	0.60209	-0.7308	10	0.30854	T	0.27	-13.1581	17.9492	0.89047	0.0:1.0:0.0:0.0	.	39;39	O94806-2;O94806	.;KPCD3_HUMAN	Q	39	ENSP00000368356:R39Q;ENSP00000234179:R39Q	ENSP00000234179:R39Q	R	-	2	0	PRKD3	37397056	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	4.322000	0.59215	2.665000	0.90641	0.591000	0.81541	CGA		0.517	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		7	83	0	0	0	8.12818e-05	0	7	83				
REL	5966	broad.mit.edu	37	2	61149499	61149499	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:61149499G>T	ENST00000295025.8	+	11	2009	c.1689G>T	c.(1687-1689)gaG>gaT	p.E563D	REL_ENST00000394479.3_Missense_Mutation_p.E531D	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	563					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATGCATTTGAGGGATCTGACT	0.418			A		Hodgkin Lymphoma																																		uc002sam.1		NA		Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				ovary(2)|breast(1)	3						c.(1687-1689)GAG>GAT		v-rel reticuloendotheliosis viral oncogene							107.0	105.0	106.0					2																	61149499		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149499G>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1689G>T	2.37:g.61149499G>T	ENSP00000295025:p.Glu563Asp					REL_uc002san.1_Missense_Mutation_p.E531D	p.E563D	NM_002908	NP_002899	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1913	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	563					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1689G>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	4.572	0.106199	0.08780	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.40756	1.23;1.02	5.74	-0.0175	0.13967	.	0.678670	0.14967	N	0.288040	T	0.15003	0.0362	N	0.08118	0	0.23204	N	0.998121	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17837	-1.0356	10	0.11182	T	0.66	-13.7052	1.5259	0.02525	0.1697:0.1182:0.3016:0.4106	.	531;563	Q17RU2;Q04864	.;REL_HUMAN	D	563;531	ENSP00000295025:E563D;ENSP00000377989:E531D	ENSP00000295025:E563D	E	+	3	2	REL	61003003	0.072000	0.21174	0.999000	0.59377	0.994000	0.84299	0.121000	0.15667	0.324000	0.23333	0.650000	0.86243	GAG		0.418	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		21	102	1	0	1.96292e-10	0.000175454	3.23761e-09	21	102				
RGPD4	285190	broad.mit.edu	37	2	108488724	108488724	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:108488724G>C	ENST00000408999.3	+	20	4341	c.4264G>C	c.(4264-4266)Ggg>Cgg	p.G1422R	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1422R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1422	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAATATGAAAGGGACAGAAAG	0.378																																							uc010ywk.1		NA																	0				skin(2)	2						c.(4264-4266)GGG>CGG		RANBP2-like and GRIP domain containing 4							9.0	7.0	8.0					2																	108488724		679	1513	2192	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488724G>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4264G>C	2.37:g.108488724G>C	ENSP00000386810:p.Gly1422Arg					RGPD4_uc002tdu.2_Missense_Mutation_p.G609R|RGPD4_uc010ywl.1_Intron	p.G1422R	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	4346	+			1422			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4264G>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	13.47	2.246649	0.39697	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.54479	0.57;0.57	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.70141	0.3190	M	0.81497	2.545	0.40124	D	0.97663	D	0.89917	1.0	D	0.91635	0.999	T	0.72510	-0.4271	9	0.42905	T	0.14	-16.9476	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1422	Q7Z3J3	RGPD4_HUMAN	R	1422	ENSP00000347081:G1422R;ENSP00000386810:G1422R	ENSP00000347081:G1422R	G	+	1	0	RGPD4	107855156	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.647000	0.83462	1.303000	0.44873	0.162000	0.16502	GGG		0.378	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		21	328	0	0	0	0.000375601	0	21	328				
TMEM177	80775	broad.mit.edu	37	2	120439204	120439204	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:120439204G>C	ENST00000424086.1	+	2	1248	c.775G>C	c.(775-777)Gcc>Ccc	p.A259P	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.A259P|TMEM177_ENST00000401466.1_Missense_Mutation_p.A259P|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	259						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GGGCAACCTGGCCCTGCGCAG	0.587																																							uc010flg.1		NA																	0				ovary(1)	1						c.(775-777)GCC>CCC		transmembrane protein 177							57.0	53.0	54.0					2																	120439204		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120439204G>C	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.775G>C	2.37:g.120439204G>C	ENSP00000402661:p.Ala259Pro					TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.A259P|TMEM177_uc002tmd.2_Missense_Mutation_p.A259P|TMEM177_uc010flh.2_Intron	p.A259P	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN			2	1248	+	Colorectal(110;0.196)		259					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.775G>C	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185086	0.78677	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.44881	0.91;0.91;0.91	5.01	3.89	0.44902	.	0.165206	0.52532	D	0.000068	T	0.50514	0.1620	M	0.77103	2.36	0.39963	D	0.974698	D	0.59767	0.986	P	0.54174	0.744	T	0.55140	-0.8187	10	0.48119	T	0.1	-17.7668	5.2089	0.15307	0.2507:0.0:0.7493:0.0	.	259	Q53S58	TM177_HUMAN	P	259;259;259;226	ENSP00000385966:A259P;ENSP00000402661:A259P;ENSP00000272521:A259P	ENSP00000272521:A259P	A	+	1	0	TMEM177	120155674	0.995000	0.38212	0.999000	0.59377	0.978000	0.69477	4.680000	0.61656	2.509000	0.84616	0.549000	0.68633	GCC		0.587	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		7	50	0	0	0	8.12818e-05	0	7	50				
TANK	10010	broad.mit.edu	37	2	162036222	162036222	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:162036222C>T	ENST00000392749.2	+	2	288	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	TANK_ENST00000457476.1_Missense_Mutation_p.R17W|TANK_ENST00000259075.2_Missense_Mutation_p.R17W|TANK_ENST00000405852.1_Missense_Mutation_p.R17W|TANK_ENST00000406287.1_Missense_Mutation_p.R75W|TANK_ENST00000403609.1_Missense_Mutation_p.R17W|TANK_ENST00000402568.1_Missense_Mutation_p.R75W	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	17					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TGAAGCCTTCCGGCAGGCATG	0.403																																							uc002ubr.1		NA																	0				ovary(1)	1						c.(49-51)CGG>TGG		TRAF interacting protein TANK isoform a							119.0	112.0	114.0					2																	162036222		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162036222C>T	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.49C>T	2.37:g.162036222C>T	ENSP00000376505:p.Arg17Trp					TANK_uc002ubq.1_Missense_Mutation_p.R17W|TANK_uc002ubs.2_Missense_Mutation_p.R17W	p.R17W	NM_004180	NP_004171	Q92844	TANK_HUMAN			2	207	+			17					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.49C>T	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639288	0.87760	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T;T;T	0.70282	0.08;0.08;1.9;-0.47;1.9	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	L	0.36672	1.1	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80576	-0.1321	10	0.87932	D	0	-8.6502	20.1547	0.98103	0.0:1.0:0.0:0.0	.	17;17	Q92844;Q7Z4J6	TANK_HUMAN;.	W	17;17;17;17;17;17;75;75;17;43;17	ENSP00000259075:R17W;ENSP00000376505:R17W;ENSP00000384492:R75W;ENSP00000385487:R17W;ENSP00000392776:R43W	ENSP00000259075:R17W	R	+	1	2	TANK	161744468	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.913000	0.69957	2.868000	0.98415	0.555000	0.69702	CGG		0.403	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		4	30	0	0	0	0.000602214	0	4	30				
DNAJC10	54431	broad.mit.edu	37	2	183584806	183584806	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:183584806C>T	ENST00000264065.7	+	4	692	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	DNAJC10_ENST00000537515.1_Missense_Mutation_p.R93W|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	93	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGAAGATCTACGGAAAAAGTA	0.313																																					Pancreas(56;860 1183 25669 35822 48585)	Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(277-279)CGG>TGG		DnaJ (Hsp40) homolog, subfamily C, member 10							133.0	129.0	131.0					2																	183584806		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183584806C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.277C>T	2.37:g.183584806C>T	ENSP00000264065:p.Arg93Trp					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.R93W|DNAJC10_uc010fro.1_RNA	p.R93W	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		4	692	+			93			J.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.277C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918529	0.73098	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	D;D	0.83419	-1.72;-1.72	5.87	4.02	0.46733	Heat shock protein DnaJ, N-terminal (4);	0.058471	0.64402	N	0.000003	D	0.93291	0.7862	H	0.97540	4.025	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93592	0.6922	10	0.72032	D	0.01	.	9.0776	0.36531	0.2584:0.6744:0.0:0.0672	.	93;93	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	W	93	ENSP00000264065:R93W;ENSP00000441560:R93W	ENSP00000264065:R93W	R	+	1	2	DNAJC10	183293051	0.783000	0.28701	0.963000	0.40424	0.995000	0.86356	1.425000	0.34859	1.476000	0.48215	0.563000	0.77884	CGG		0.313	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		6	56	0	0	0	8.12818e-05	0	6	56				
COL4A4	1286	broad.mit.edu	37	2	227872966	227872966	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:227872966T>C	ENST00000396625.3	-	47	4784	c.4577A>G	c.(4576-4578)aAc>aGc	p.N1526S	COL4A4_ENST00000329662.7_Missense_Mutation_p.N1523S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1526	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGTGGATGTTGCAGTAGGC	0.582																																							uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(4576-4578)AAC>AGC		alpha 4 type IV collagen precursor							58.0	67.0	64.0					2																	227872966		2135	4241	6376	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227872966T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4577A>G	2.37:g.227872966T>C	ENSP00000379866:p.Asn1526Ser						p.N1526S	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	46	5231	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1526			Collagen IV NC1.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4577A>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345523	0.61073	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.83250	-1.7;-1.7	6.08	6.08	0.98989	C-type lectin fold (1);	.	.	.	.	D	0.89199	0.6647	M	0.69823	2.125	0.48395	D	0.999648	D	0.55385	0.971	P	0.58620	0.842	D	0.89834	0.3998	9	0.62326	D	0.03	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1526	P53420	CO4A4_HUMAN	S	1526;1523	ENSP00000379866:N1526S;ENSP00000328553:N1523S	ENSP00000328553:N1523S	N	-	2	0	COL4A4	227581210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.986000	0.49370	2.333000	0.79357	0.533000	0.62120	AAC		0.582	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		3	33	0	0	0	6.4e-05	0	3	33				
UGT1A10	54575	broad.mit.edu	37	2	234545643	234545643	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:234545643A>G	ENST00000344644.5	+	1	544	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.K159E	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	159					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	AATTGTTGCTAAATATTTCTC	0.423																																							uc002vur.2		NA																	0				ovary(2)|skin(1)	3						c.(475-477)AAA>GAA		UDP glycosyltransferase 1 family, polypeptide							139.0	144.0	142.0					2																	234545643		2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545643A>G	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.475A>G	2.37:g.234545643A>G	ENSP00000343838:p.Lys159Glu					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.K159E	p.K159E	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	521	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	159					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.475A>G	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	A	0.087	-1.173187	0.01646	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59502	0.26;0.26	3.52	3.52	0.40303	.	.	.	.	.	T	0.42063	0.1186	N	0.02225	-0.63	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.983;0.991	T	0.42015	-0.9476	9	0.02654	T	1	.	6.0597	0.19830	0.7282:0.0:0.2718:0.0	.	159;159	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	E	159	ENSP00000343838:K159E;ENSP00000362544:K159E	ENSP00000343838:K159E	K	+	1	0	UGT1A10	234210382	0.000000	0.05858	0.376000	0.26042	0.282000	0.26991	0.227000	0.17795	1.624000	0.50355	0.333000	0.21579	AAA		0.423	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		26	132	0	0	0	0.000227799	0	26	132				
GPR35	2859	broad.mit.edu	37	2	241569479	241569479	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:241569479T>G	ENST00000319838.5	+	6	1052	c.110T>G	c.(109-111)cTc>cGc	p.L37R	GPR35_ENST00000407714.1_Missense_Mutation_p.L37R|GPR35_ENST00000438013.2_Missense_Mutation_p.L68R|GPR35_ENST00000403859.1_Missense_Mutation_p.L37R|GPR35_ENST00000430267.1_Missense_Mutation_p.L37R	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCTGCTGCTCAACAGCCTG	0.642																																							uc002vzs.1		NA																	0				skin(2)|pancreas(1)	3						c.(109-111)CTC>CGC		G protein-coupled receptor 35							72.0	67.0	69.0					2																	241569479		2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569479T>G		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.110T>G	2.37:g.241569479T>G	ENSP00000322731:p.Leu37Arg					GPR35_uc010fzh.1_Missense_Mutation_p.L68R|GPR35_uc010fzi.1_Missense_Mutation_p.L68R	p.L37R	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	1	685	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	37			Helical; Name=1; (Potential).		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.110T>G	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599795	0.46318	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.329659	0.27754	U	0.017991	T	0.59998	0.2235	M	0.82517	2.595	0.30531	N	0.767422	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.68621	0.959;0.959;0.959	T	0.60439	-0.7263	10	0.34782	T	0.22	-24.4094	7.3752	0.26825	0.0:0.0:0.2232:0.7768	.	122;68;37	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	R	37;37;68;37;37	ENSP00000322731:L37R;ENSP00000385140:L37R;ENSP00000415890:L68R;ENSP00000384263:L37R;ENSP00000411788:L37R	ENSP00000322731:L37R	L	+	2	0	GPR35	241218152	0.000000	0.05858	0.997000	0.53966	0.656000	0.38851	-0.300000	0.08243	1.718000	0.51419	0.379000	0.24179	CTC		0.642	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		5	50	0	0	0	0.000602214	0	5	50				
ZNF341	84905	broad.mit.edu	37	20	32378868	32378868	+	Missense_Mutation	SNP	G	G	A	rs570540546	byFrequency	TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr20:32378868G>A	ENST00000375200.1	+	15	2475	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	ZNF341_ENST00000342427.2_Missense_Mutation_p.A697T|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCATCAGCGCGCCCACACGGG	0.612													G|||	3	0.000599042	0.0	0.0	5008	,	,		12648	0.0		0.0	False		,,,				2504	0.0031						uc002wzy.2		NA																	0				ovary(2)	2						c.(2110-2112)GCC>ACC		zinc finger protein 341							37.0	37.0	37.0					20																	32378868		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32378868G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2110G>A	20.37:g.32378868G>A	ENSP00000364346:p.Ala704Thr					ZNF341_uc002wzx.2_Missense_Mutation_p.A697T|ZNF341_uc010geq.2_Missense_Mutation_p.A614T|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Missense_Mutation_p.A131T	p.A704T	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			15	2130	+			704			C2H2-type 12.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.2110G>A		.	.	.	.	.	.	.	.	.	.	G	9.432	1.085689	0.20390	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.58940	0.3;0.3	4.44	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.490245	0.20583	N	0.089484	T	0.19087	0.0458	N	0.00783	-1.19	0.25337	N	0.988985	B;P;P;P	0.37176	0.355;0.529;0.586;0.531	B;B;B;B	0.31869	0.066;0.102;0.137;0.084	T	0.13953	-1.0490	10	0.38643	T	0.18	-9.6808	5.1156	0.14833	0.1637:0.0:0.4287:0.4076	.	645;556;704;697	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	T	697;704	ENSP00000344308:A697T;ENSP00000364346:A704T	ENSP00000344308:A697T	A	+	1	0	ZNF341	31842529	0.974000	0.33945	0.904000	0.35570	0.940000	0.58332	2.254000	0.43214	0.972000	0.38314	0.491000	0.48974	GCC		0.612	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				5	35	0	0	0	0.000602214	0	5	35				
NCOA5	57727	broad.mit.edu	37	20	44691001	44691001	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr20:44691001G>C	ENST00000290231.6	-	8	1842	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	560	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCTGTGGTCTGGCTAACCAGG	0.547																																							uc002xrd.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1678-1680)CAG>GAG		nuclear receptor coactivator 5							55.0	48.0	50.0					20																	44691001		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691001G>C		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1678C>G	20.37:g.44691001G>C	ENSP00000290231:p.Gln560Glu					NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.Q560E	p.Q560E	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			7	2206	-		Myeloproliferative disorder(115;0.0122)	560			Transcription activation.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1678C>G	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091057	0.36855	.	.	ENSG00000124160	ENST00000290231	T	0.34472	1.36	5.65	5.65	0.86999	.	0.584681	0.19553	N	0.111508	T	0.51584	0.1683	L	0.34521	1.04	0.50171	D	0.999854	P	0.52577	0.954	D	0.67900	0.954	T	0.48175	-0.9058	10	0.72032	D	0.01	-11.1875	18.891	0.92403	0.0:0.0:1.0:0.0	.	560	Q9HCD5	NCOA5_HUMAN	E	560	ENSP00000290231:Q560E	ENSP00000290231:Q560E	Q	-	1	0	NCOA5	44124408	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	6.518000	0.73764	2.941000	0.99782	0.655000	0.94253	CAG		0.547	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		4	30	0	0	0	0.000602214	0	4	30				
UMODL1	89766	broad.mit.edu	37	21	43522353	43522353	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr21:43522353G>A	ENST00000408910.2	+	8	1264	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	UMODL1_ENST00000400424.2_Missense_Mutation_p.E350K|UMODL1_ENST00000408989.2_Missense_Mutation_p.E422K|UMODL1_ENST00000400427.1_Missense_Mutation_p.E350K|C21orf128_ENST00000329015.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	422	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGTGTGGAGTACCAGGA	0.438																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	0				ovary(2)|skin(1)	3						c.(1264-1266)GAG>AAG		uromodulin-like 1 isoform 1 precursor							88.0	87.0	87.0					21																	43522353		1911	4134	6045	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43522353G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1264G>A	21.37:g.43522353G>A	ENSP00000386147:p.Glu422Lys					UMODL1_uc002zad.1_Missense_Mutation_p.E350K|UMODL1_uc002zae.1_Missense_Mutation_p.E350K|UMODL1_uc002zag.1_Missense_Mutation_p.E422K|UMODL1_uc010gow.1_Missense_Mutation_p.E214K|UMODL1_uc002zai.1_Missense_Mutation_p.E73K|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.E73K|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.E167K|C21orf128_uc002zak.2_3'UTR	p.E422K	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			8	1264	+			422			Extracellular (Potential).|SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1264G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587272	0.46110	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	3.99	3.99	0.46301	SEA (1);	0.143817	0.31246	N	0.008000	T	0.65698	0.2716	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.994	D;D;D	0.73380	0.98;0.978;0.974	T	0.69537	-0.5119	10	0.59425	D	0.04	-26.6153	13.8624	0.63569	0.0:0.0:1.0:0.0	.	350;422;422	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	K	350;350;422;422	ENSP00000383279:E350K;ENSP00000383276:E350K;ENSP00000386126:E422K;ENSP00000386147:E422K	ENSP00000383276:E350K	E	+	1	0	UMODL1	42395422	0.993000	0.37304	0.049000	0.19019	0.019000	0.09904	4.800000	0.62524	2.173000	0.68751	0.655000	0.94253	GAG		0.438	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			8	144	0	0	0	0.000274275	0	8	144				
PCBP3	54039	broad.mit.edu	37	21	47360050	47360050	+	Missense_Mutation	SNP	G	G	A	rs201382669		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr21:47360050G>A	ENST00000400314.1	+	15	1354	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	PCBP3_ENST00000400304.1_Missense_Mutation_p.R329H|PCBP3_ENST00000449640.1_Missense_Mutation_p.R339H|PCBP3_ENST00000400310.1_Missense_Mutation_p.R319H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R313H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R338H			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	339	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)		TCCTCAGAGCGTCAGATCACC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18767	0.0		0.0	False		,,,				2504	0.0						uc002zhq.1		NA																	0				skin(1)	1						c.(1015-1017)CGT>CAT		poly(rC) binding protein 3 isoform 1							65.0	73.0	71.0					21																	47360050		2137	4253	6390	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360050G>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.1016G>A	21.37:g.47360050G>A	ENSP00000383168:p.Arg339His					PCBP3_uc002zhp.1_Missense_Mutation_p.R319H|PCBP3_uc002zhs.1_Missense_Mutation_p.R313H|PCBP3_uc002zhr.1_Missense_Mutation_p.R338H|PCBP3_uc002zht.1_Missense_Mutation_p.R329H	p.R339H	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1141	+	all_hematologic(128;0.24)		339			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.1016G>A	CCDS42974.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	29.6	5.017808	0.93404	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29	4.08	4.08	0.47627	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	H	0.95780	3.72	0.80722	D	1	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;0.998;0.975;1.0;0.975	T	0.82412	-0.0470	10	0.87932	D	0	-12.8649	16.4819	0.84160	0.0:0.0:1.0:0.0	.	329;313;338;339;319	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	H	339;319;338;313;339;319;290;329	ENSP00000383168:R339H;ENSP00000383165:R319H;ENSP00000383164:R338H;ENSP00000383163:R313H;ENSP00000401198:R339H;ENSP00000383160:R290H;ENSP00000383159:R329H	ENSP00000330225:R319H	R	+	2	0	PCBP3	46184478	1.000000	0.71417	0.624000	0.29186	0.890000	0.51754	9.011000	0.93618	2.097000	0.63578	0.549000	0.68633	CGT		0.557	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			11	46	0	0	0	6.40141e-05	0	11	46				
IL2RB	3560	broad.mit.edu	37	22	37524438	37524438	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr22:37524438C>T	ENST00000216223.5	-	10	1552	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	452					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCCTCTCTTCACCGGCCCCA	0.667																																							uc003aqv.1		NA																	0					0						c.(1354-1356)GAA>AAA		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						10.0	13.0	12.0					22																	37524438		2074	4092	6166	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524438C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1354G>A	22.37:g.37524438C>T	ENSP00000216223:p.Glu452Lys						p.E452K	NM_000878	NP_000869	P14784	IL2RB_HUMAN			10	1485	-			452			Cytoplasmic (Potential).		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1354G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655916	0.29425	.	.	ENSG00000100385	ENST00000216223	T	0.09538	2.97	4.42	2.24	0.28232	.	2.174010	0.01581	N	0.021081	T	0.10895	0.0266	L	0.49350	1.555	0.09310	N	1	P	0.35628	0.513	B	0.32533	0.147	T	0.33624	-0.9861	10	0.13108	T	0.6	-3.7883	5.7134	0.17946	0.0:0.625:0.1772:0.1977	.	452	P14784	IL2RB_HUMAN	K	452	ENSP00000216223:E452K	ENSP00000216223:E452K	E	-	1	0	IL2RB	35854384	0.003000	0.15002	0.026000	0.17262	0.141000	0.21300	0.507000	0.22675	0.956000	0.37904	0.561000	0.74099	GAA		0.667	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			9	10	0	0	0	0.000442599	0	9	10				
SCN5A	6331	broad.mit.edu	37	3	38674694	38674694	+	Silent	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr3:38674694G>A	ENST00000333535.4	-	2	254	c.105C>T	c.(103-105)ggC>ggT	p.G35G	SCN5A_ENST00000450102.2_Silent_p.G35G|SCN5A_ENST00000423572.2_Silent_p.G35G|SCN5A_ENST00000443581.1_Silent_p.G35G|SCN5A_ENST00000451551.2_Silent_p.G35G|SCN5A_ENST00000414099.2_Silent_p.G35G|SCN5A_ENST00000449557.2_Silent_p.G35G|SCN5A_ENST00000413689.1_Silent_p.G35G|SCN5A_ENST00000425664.1_Silent_p.G35G|SCN5A_ENST00000455624.2_Silent_p.G35G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	35					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGTGGTTGAGCCGCGGGCTT	0.637																																							uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(103-105)GGC>GGT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						29.0	32.0	31.0					3																	38674694		1955	4135	6090	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38674694G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.105C>T	3.37:g.38674694G>A						SCN5A_uc003cin.2_Silent_p.G35G|SCN5A_uc003cil.3_Silent_p.G35G|SCN5A_uc010hhi.2_Silent_p.G35G|SCN5A_uc010hhk.2_Silent_p.G35G|SCN5A_uc011ayr.1_Silent_p.G35G	p.G35G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	2	299	-	Medulloblastoma(35;0.163)		35					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.105C>T	CCDS46796.1																																																																																				0.637	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	16	0	0	0	6.4e-05	0	3	16				
BSN	8927	broad.mit.edu	37	3	49692949	49692949	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr3:49692949C>T	ENST00000296452.4	+	5	6074	c.5960C>T	c.(5959-5961)aCc>aTc	p.T1987I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1987					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATGTCTGACACCAATTTGGCT	0.627																																							uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(5959-5961)ACC>ATC		bassoon protein							67.0	64.0	65.0					3																	49692949		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692949C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5960C>T	3.37:g.49692949C>T	ENSP00000296452:p.Thr1987Ile						p.T1987I	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6074	+			1987					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.5960C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786312	0.49997	.	.	ENSG00000164061	ENST00000296452	T	0.24151	1.87	5.1	5.1	0.69264	.	0.052542	0.85682	D	0.000000	T	0.54759	0.1878	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60586	-0.7234	10	0.87932	D	0	-20.1076	18.5205	0.90950	0.0:1.0:0.0:0.0	.	1987	Q9UPA5	BSN_HUMAN	I	1987	ENSP00000296452:T1987I	ENSP00000296452:T1987I	T	+	2	0	BSN	49667953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.961000	0.70356	2.380000	0.81148	0.561000	0.74099	ACC		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	29	0	0	0	0.000602214	0	4	29				
ECT2	1894	broad.mit.edu	37	3	172480505	172480505	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr3:172480505A>T	ENST00000392692.3	+	10	1090	c.914A>T	c.(913-915)gAt>gTt	p.D305V	ECT2_ENST00000232458.5_Missense_Mutation_p.D274V|ECT2_ENST00000427830.1_Missense_Mutation_p.D274V|ECT2_ENST00000540509.1_Missense_Mutation_p.D305V|ECT2_ENST00000417960.1_Missense_Mutation_p.D273V|ECT2_ENST00000441497.2_Missense_Mutation_p.D274V	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	305	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCGCTTGGAGATGAAAGATGC	0.333																																							uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(820-822)GAT>GTT		epithelial cell transforming sequence 2 oncogene							95.0	96.0	95.0					3																	172480505		2202	4298	6500	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480505A>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.914A>T	3.37:g.172480505A>T	ENSP00000376457:p.Asp305Val					ECT2_uc010hwv.1_Missense_Mutation_p.D305V|ECT2_uc003fih.2_Missense_Mutation_p.D273V|ECT2_uc003fij.1_Missense_Mutation_p.D274V|ECT2_uc003fik.1_Missense_Mutation_p.D274V|ECT2_uc003fil.1_Missense_Mutation_p.D305V	p.D274V	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		9	959	+	Ovarian(172;0.00197)|Breast(254;0.158)		274			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.821A>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442032	0.83993	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.98	5.98	0.97165	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.90177	0.6930	M	0.83953	2.67	0.80722	D	1	B;D;B;B	0.69078	0.221;0.997;0.393;0.185	B;D;B;B	0.71870	0.403;0.975;0.312;0.205	D	0.91365	0.5115	10	0.72032	D	0.01	-24.5182	16.4696	0.84102	1.0:0.0:0.0:0.0	.	305;305;274;273	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	V	274;305;274;273;274;305	ENSP00000232458:D274V;ENSP00000376457:D305V;ENSP00000401910:D274V;ENSP00000415876:D273V;ENSP00000412259:D274V;ENSP00000443160:D305V	ENSP00000232458:D274V	D	+	2	0	ECT2	173963199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.672000	0.91181	2.289000	0.77006	0.482000	0.46254	GAT		0.333	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		4	52	0	0	0	3.59834e-05	0	4	52				
WHSC1	7468	broad.mit.edu	37	4	1961302	1961303	+	Missense_Mutation	DNP	GG	GG	TC	rs376544920		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr4:1961302_1961303GG>TC	ENST00000382895.3	+	19	3521_3522	c.3090_3091GG>TC	c.(3088-3093)tcGGag>tcTCag	p.E1031Q	WHSC1_ENST00000508803.1_Missense_Mutation_p.E1031Q|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.E1031Q|WHSC1_ENST00000382888.3_Missense_Mutation_p.E379Q|WHSC1_ENST00000382892.2_Missense_Mutation_p.E1031Q	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1031	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S1030S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCTTTGATTCGGAGTGTCTGAA	0.525			T	IGH@	MM																																		uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(3088-3093)TCGGAG>TCTCAG		Wolf-Hirschhorn syndrome candidate 1 protein																																				SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1961302_1961303GG>TC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	Exception_encountered	4.37:g.1961302_1961303delinsTC	ENSP00000372351:p.Glu1031Gln					WHSC1_uc003geb.3_Missense_Mutation_p.E1031Q|WHSC1_uc003gec.3_Missense_Mutation_p.E1031Q|WHSC1_uc003ged.3_Missense_Mutation_p.E1031Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.E250Q|WHSC1_uc011bvh.1_Missense_Mutation_p.E92Q|WHSC1_uc010icf.2_Missense_Mutation_p.E379Q	p.E1031Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	17	3266_3267	+		all_epithelial(65;1.34e-05)	1031			AWS.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	DNP	ENST00000382895.3	37	c.3090_3091GG>TC	CCDS33940.1																																																																																				0.525	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		11	51	0	0	0	6.4e-05	0	11	51				
TAS2R1	50834	broad.mit.edu	37	5	9630087	9630087	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr5:9630087C>A	ENST00000382492.2	-	1	376	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	20					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GTGAAAATCCCAAGAAGAAAT	0.348																																							uc003jem.1		NA																	0				ovary(3)	3						c.(58-60)GGG>TGG		taste receptor T2R1							51.0	54.0	53.0					5																	9630087		2196	4295	6491	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9630087C>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.58G>T	5.37:g.9630087C>A	ENSP00000371932:p.Gly20Trp						p.G20W	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	377	-			20			Helical; Name=1; (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.58G>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490205	0.64074	.	.	ENSG00000169777	ENST00000382492	T	0.01527	4.8	5.32	5.32	0.75619	.	0.145769	0.45867	D	0.000328	T	0.12902	0.0313	M	0.86343	2.81	0.46631	D	0.999132	D	0.89917	1.0	D	0.97110	1.0	T	0.00079	-1.2112	9	.	.	.	.	16.5409	0.84384	0.0:1.0:0.0:0.0	.	20	Q9NYW7	TA2R1_HUMAN	W	20	ENSP00000371932:G20W	.	G	-	1	0	TAS2R1	9683087	0.507000	0.26146	0.170000	0.22879	0.009000	0.06853	3.261000	0.51530	2.767000	0.95098	0.655000	0.94253	GGG		0.348	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			20	56	1	0	8.10497e-08	0.000175454	1.30461e-06	20	56				
ISL1	3670	broad.mit.edu	37	5	50683467	50683467	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr5:50683467C>T	ENST00000230658.7	+	3	947	c.362C>T	c.(361-363)gCg>gTg	p.A121V	ISL1_ENST00000511384.1_Missense_Mutation_p.A121V|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	121	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GACGAATTTGCGCTTCGGGAG	0.632																																							uc003jor.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(361-363)GCG>GTG		islet-1							54.0	57.0	56.0					5																	50683467		2098	4210	6308	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50683467C>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.362C>T	5.37:g.50683467C>T	ENSP00000230658:p.Ala121Val						p.A121V	NM_002202	NP_002193	P61371	ISL1_HUMAN			3	910	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	121			LIM zinc-binding 2.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.362C>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873960	0.72180	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.87179	-2.22;-2.22	5.53	5.53	0.82687	Zinc finger, LIM-type (4);	0.058204	0.64402	D	0.000002	D	0.83252	0.5214	L	0.43701	1.375	0.80722	D	1	B	0.30455	0.28	B	0.26202	0.067	T	0.79647	-0.1716	10	0.27082	T	0.32	.	19.1354	0.93426	0.0:1.0:0.0:0.0	.	121	P61371	ISL1_HUMAN	V	121	ENSP00000230658:A121V;ENSP00000422676:A121V	ENSP00000230658:A121V	A	+	2	0	ISL1	50719224	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.648000	0.83479	2.607000	0.88179	0.555000	0.69702	GCG		0.632	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		7	30	0	0	0	8.12818e-05	0	7	30				
FAT2	2196	broad.mit.edu	37	5	150931118	150931118	+	Silent	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr5:150931118G>A	ENST00000261800.5	-	6	4218	c.4206C>T	c.(4204-4206)atC>atT	p.I1402I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1402	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCAATGACGATGCTGCCTG	0.522																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4204-4206)ATC>ATT		FAT tumor suppressor 2 precursor							197.0	165.0	176.0					5																	150931118		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150931118G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4206C>T	5.37:g.150931118G>A						GM2A_uc011dcs.1_Intron	p.I1402I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	4219	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1402			Extracellular (Potential).|Cadherin 12.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4206C>T	CCDS4317.1																																																																																				0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	63	0	0	0	0.000274275	0	7	63				
HLA-DMA	3108	broad.mit.edu	37	6	32918314	32918314	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr6:32918314T>C	ENST00000374843.4	-	2	440	c.355A>G	c.(355-357)Aaa>Gaa	p.K119E	HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119E|HLA-DMA_ENST00000395305.3_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_Intron	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	119	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						ACCGGGATTTTCCCATCAAGT	0.488																																							uc003ocm.2		NA																	0					0						c.(355-357)AAA>GAA		major histocompatibility complex, class II, DM							168.0	204.0	191.0					6																	32918314		1507	2707	4214	SO:0001583	missense	3108					integral to membrane|MHC class II protein complex		g.chr6:32918314T>C		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.355A>G	6.37:g.32918314T>C	ENSP00000363976:p.Lys119Glu					HLA-DMA_uc011dqm.1_Missense_Mutation_p.K119E	p.K119E	NM_006120	NP_006111	Q31604	Q31604_HUMAN			2	441	-			119					Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	c.355A>G	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926844	0.34002	.	.	ENSG00000204257	ENST00000395303;ENST00000374843;ENST00000456800;ENST00000422832;ENST00000341486	T;T;T;T	0.00730	5.77;5.77;5.77;5.77	5.39	-8.67	0.00863	MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.353090	0.04457	N	0.373690	T	0.00271	0.0008	L	0.38175	1.15	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.19148	0.024;0.024	T	0.36962	-0.9726	10	0.40728	T	0.16	.	9.248	0.37539	0.0668:0.0834:0.1344:0.7153	.	119;119	P28067;Q31604	DMA_HUMAN;.	E	119;119;149;86;111	ENSP00000378714:K119E;ENSP00000363976:K119E;ENSP00000409668:K149E;ENSP00000403122:K86E	ENSP00000345804:K111E	K	-	1	0	HLA-DMA	33026292	0.000000	0.05858	0.000000	0.03702	0.836000	0.47400	-5.230000	0.00139	-2.202000	0.00745	0.523000	0.50628	AAA		0.488	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		9	209	0	0	0	0.000442599	0	9	209				
TAAR5	9038	broad.mit.edu	37	6	132910007	132910007	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr6:132910007C>T	ENST00000258034.2	-	1	870	c.819G>A	c.(817-819)atG>atA	p.M273I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	273					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCTGTCGACCATCGTGTCTA	0.517																																							uc003qdk.2		NA																	0				skin(1)	1						c.(817-819)ATG>ATA		trace amine associated receptor 5							96.0	99.0	98.0					6																	132910007		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910007C>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.819G>A	6.37:g.132910007C>T	ENSP00000258034:p.Met273Ile						p.M273I	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	871	-	Breast(56;0.112)		273			Helical; Name=6; (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.819G>A	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.993641	0.00439	.	.	ENSG00000135569	ENST00000258034	T	0.32988	1.43	5.47	0.317	0.15861	GPCR, rhodopsin-like superfamily (1);	0.951239	0.08636	N	0.916245	T	0.01695	0.0054	N	0.00879	-1.12	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41556	-0.9502	10	0.08837	T	0.75	-2.2841	1.3372	0.02147	0.2138:0.3819:0.1049:0.2994	.	273	O14804	TAAR5_HUMAN	I	273	ENSP00000258034:M273I	ENSP00000258034:M273I	M	-	3	0	TAAR5	132951700	0.000000	0.05858	0.013000	0.15412	0.123000	0.20343	-1.853000	0.01666	0.094000	0.17404	-0.175000	0.13238	ATG		0.517	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		11	90	0	0	0	6.40141e-05	0	11	90				
NOD1	10392	broad.mit.edu	37	7	30491515	30491515	+	Silent	SNP	G	G	A	rs374041096		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr7:30491515G>A	ENST00000222823.4	-	6	2043	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	506	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGTCACCCCCGGGGCCCAGCT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17214	0.0		0.0	False		,,,				2504	0.001						uc003tav.2		NA																	0				ovary(1)|skin(1)	2						c.(1516-1518)CCC>CCT		nucleotide-binding oligomerization domain							32.0	39.0	37.0					7																	30491515		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491515G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1518C>T	7.37:g.30491515G>A							p.P506P	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	2041	-			506			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1518C>T	CCDS5427.1																																																																																				0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			7	56	0	0	0	0.000274275	0	7	56				
KIAA0895	23366	broad.mit.edu	37	7	36373544	36373544	+	Silent	SNP	G	G	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr7:36373544G>T	ENST00000297063.6	-	5	1277	c.1227C>A	c.(1225-1227)ggC>ggA	p.G409G	KIAA0895_ENST00000440378.1_Silent_p.G406G|KIAA0895_ENST00000338533.5_Silent_p.G396G|KIAA0895_ENST00000453212.1_Silent_p.G164G|KIAA0895_ENST00000436884.1_Silent_p.G306G|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000317020.6_Silent_p.G358G	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	409										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGACAAACCTGCCAATATCTT	0.448																																							uc003tfd.2		NA																	0					0						c.(1225-1227)GGC>GGA		hypothetical protein LOC23366 isoform 1							97.0	95.0	96.0					7																	36373544		1857	4082	5939	SO:0001819	synonymous_variant	23366							g.chr7:36373544G>T	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1227C>A	7.37:g.36373544G>T						KIAA0895_uc003tfc.2_Silent_p.G396G|KIAA0895_uc011kaw.1_Silent_p.G306G|KIAA0895_uc003tfb.2_Silent_p.G358G|KIAA0895_uc011kax.1_Silent_p.G406G	p.G409G	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN			5	1278	-			409					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Silent	SNP	ENST00000297063.6	37	c.1227C>A	CCDS43570.1																																																																																				0.448	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		6	122	1	0	2.0095e-06	8.12818e-05	3.12173e-05	6	122				
OGDH	4967	broad.mit.edu	37	7	44687313	44687313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr7:44687313G>T	ENST00000222673.5	+	4	514	c.472G>T	c.(472-474)Gac>Tac	p.D158Y	OGDH_ENST00000449767.1_Intron|OGDH_ENST00000444676.1_Missense_Mutation_p.D158Y|OGDH_ENST00000443864.2_Missense_Mutation_p.D158Y|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	158					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TGCTGATCTGGACTCCTCCGT	0.557																																							uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(472-474)GAC>TAC		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						121.0	111.0	114.0					7																	44687313		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44687313G>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.472G>T	7.37:g.44687313G>T	ENSP00000222673:p.Asp158Tyr					OGDH_uc003tlm.2_Missense_Mutation_p.D158Y|OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Missense_Mutation_p.W4C|OGDH_uc003tlo.1_5'UTR	p.D158Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN			4	581	+			158					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.472G>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658690	0.67586	.	.	ENSG00000105953	ENST00000443864;ENST00000419661;ENST00000444676;ENST00000222673	T;T;T;T	0.43294	0.95;0.95;3.36;0.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	L	0.54323	1.7	0.80722	D	1	D;P	0.54772	0.968;0.672	P;B	0.54460	0.753;0.313	T	0.55082	-0.8196	10	0.87932	D	0	-49.0589	20.4898	0.99202	0.0:0.0:1.0:0.0	.	158;158	Q02218;Q96DD3	ODO1_HUMAN;.	Y	158	ENSP00000388084:D158Y;ENSP00000411830:D158Y;ENSP00000414662:D158Y;ENSP00000222673:D158Y	ENSP00000222673:D158Y	D	+	1	0	OGDH	44653838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAC		0.557	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			18	148	1	0	1.10513e-12	0.000295444	1.86893e-11	18	148				
MAGI2	9863	broad.mit.edu	37	7	77764449	77764449	+	Silent	SNP	G	G	T			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr7:77764449G>T	ENST00000354212.4	-	17	3173	c.2920C>A	c.(2920-2922)Cgg>Agg	p.R974R	MAGI2_ENST00000419488.1_Silent_p.R960R|MAGI2_ENST00000522391.1_Silent_p.R974R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	974	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTAGGATCCGGTCTCCCACT	0.483																																							uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2920-2922)CGG>AGG		membrane associated guanylate kinase, WW and PDZ							222.0	183.0	196.0					7																	77764449		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764449G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2920C>A	7.37:g.77764449G>T						MAGI2_uc003ugy.2_Silent_p.R960R|MAGI2_uc010ldx.1_Silent_p.R567R	p.R974R	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			17	3174	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	974			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2920C>A	CCDS5594.1																																																																																				0.483	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		5	159	1	0	8.12818e-05	8.12818e-05	0.00124819	5	159				
MOGAT3	346606	broad.mit.edu	37	7	100843556	100843556	+	Missense_Mutation	SNP	G	G	A	rs200165339		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr7:100843556G>A	ENST00000223114.4	-	3	413	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	MOGAT3_ENST00000379423.3_Missense_Mutation_p.R83W|MOGAT3_ENST00000440203.2_Missense_Mutation_p.R83W	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	83					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CAAATTGCCCGGTTCCTTATC	0.562													g|||	1	0.000199681	0.0	0.0014	5008	,	,		6065	0.0		0.0	False		,,,				2504	0.0						uc003uyc.2		NA																	0				ovary(2)	2						c.(247-249)CGG>TGG		monoacylglycerol O-acyltransferase 3		A	TRP/ARG	1,4405		0,1,2202	190.0	184.0	186.0		247	-0.4	0.0	7		186	0,8600		0,0,4300	yes	missense	MOGAT3	NM_178176.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	83/342	100843556	1,13005	2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100843556G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.247C>T	7.37:g.100843556G>A	ENSP00000223114:p.Arg83Trp					MOGAT3_uc010lhr.2_Missense_Mutation_p.R83W	p.R83W	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			3	414	-	Lung NSC(181;0.168)|all_lung(186;0.215)		83					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.247C>T	CCDS5714.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	0.106	-1.145412	0.01714	2.27E-4	0.0	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	D;T;T	0.93604	-3.25;2.61;2.61	4.65	-0.382	0.12481	.	0.636921	0.16936	N	0.193461	T	0.64091	0.2567	N	0.00051	-2.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68614	-0.5362	10	0.02654	T	1	0.0207	8.9945	0.36043	0.7424:0.0:0.2576:0.0	.	83;83	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	W	83	ENSP00000223114:R83W;ENSP00000403756:R83W;ENSP00000368734:R83W	ENSP00000223114:R83W	R	-	1	2	MOGAT3	100630276	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.426000	0.34870	-0.193000	0.10415	-1.145000	0.01858	CGG		0.562	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		29	200	0	0	0	0.000409698	0	29	200				
ADAM18	8749	broad.mit.edu	37	8	39564352	39564352	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr8:39564352G>A	ENST00000265707.5	+	18	1991	c.1946G>A	c.(1945-1947)aGa>aAa	p.R649K	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.R625K|ADAM18_ENST00000541111.1_Missense_Mutation_p.R63K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	649	EGF-like.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCTGGACATAGACCTCCAGAT	0.348																																							uc003xni.2		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1945-1947)AGA>AAA		a disintegrin and metalloprotease domain 18							106.0	108.0	107.0					8																	39564352		2203	4299	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39564352G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1946G>A	8.37:g.39564352G>A	ENSP00000265707:p.Arg649Lys					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.R625K	p.R649K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		18	1946	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	649			EGF-like.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1946G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.535951	0.00143	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.89681	-2.55;-2.55;-2.55	3.58	-1.66	0.08265	.	0.481828	0.17347	N	0.177532	T	0.70544	0.3236	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.57051	-0.7877	10	0.22109	T	0.4	.	6.4414	0.21851	0.2883:0.131:0.5807:0.0	.	625;649	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	K	649;625;63	ENSP00000265707:R649K;ENSP00000369195:R625K;ENSP00000444729:R63K	ENSP00000265707:R649K	R	+	2	0	ADAM18	39683509	0.004000	0.15560	0.000000	0.03702	0.057000	0.15508	-0.468000	0.06656	-0.652000	0.05408	-2.064000	0.00396	AGA		0.348	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		21	58	0	0	0	0.000295444	0	21	58				
FZD6	8323	broad.mit.edu	37	8	104331000	104331000	+	Silent	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr8:104331000G>A	ENST00000358755.4	+	3	677	c.360G>A	c.(358-360)gaG>gaA	p.E120E	FZD6_ENST00000522566.1_Silent_p.E120E|FZD6_ENST00000523739.1_Silent_p.E88E|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	120	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GGCCTGAGGAGCTTGAATGTG	0.368																																							uc003ylh.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(358-360)GAG>GAA		frizzled 6 isoform a precursor							68.0	68.0	68.0					8																	104331000		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104331000G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.360G>A	8.37:g.104331000G>A						FZD6_uc003yli.2_Silent_p.E120E|FZD6_uc003ylj.2_Silent_p.E120E|FZD6_uc011lhn.1_Silent_p.E86E|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Silent_p.E65E	p.E120E	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	644	+			120			FZ.|Extracellular (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.360G>A	CCDS6298.1																																																																																				0.368	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		6	44	0	0	0	3.59834e-05	0	6	44				
ZNF462	58499	broad.mit.edu	37	9	109773236	109773236	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr9:109773236G>C	ENST00000277225.5	+	13	7735	c.7446G>C	c.(7444-7446)aaG>aaC	p.K2482N	ZNF462_ENST00000542028.1_Missense_Mutation_p.K439N|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Missense_Mutation_p.K2542N|ZNF462_ENST00000441147.2_Missense_Mutation_p.K1388N			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2482					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTTCCCTAAAGAATGAAACAG	0.413																																							uc004bcz.2		NA																	0				ovary(5)	5						c.(7444-7446)AAG>AAC		zinc finger protein 462							101.0	92.0	95.0					9																	109773236		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109773236G>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7446G>C	9.37:g.109773236G>C	ENSP00000277225:p.Lys2482Asn					ZNF462_uc010mto.2_Missense_Mutation_p.K2391N|ZNF462_uc004bda.2_Missense_Mutation_p.K2390N|ZNF462_uc011lvz.1_Missense_Mutation_p.K439N|uc004bdc.1_Intron	p.K2482N	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			13	7735	+			2482					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.7446G>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947941	0.34377	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.15603	3.36;3.84;3.96;3.97;2.41	5.75	4.86	0.63082	.	0.330902	0.32503	N	0.006017	T	0.10937	0.0267	N	0.16478	0.41	0.30417	N	0.77849	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.001	T	0.08932	-1.0698	10	0.30078	T	0.28	.	11.1699	0.48565	0.0713:0.1369:0.7917:0.0	.	2542;2482	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	N	2482;2542;1425;1388;439	ENSP00000277225:K2482N;ENSP00000414570:K2542N;ENSP00000363818:K1425N;ENSP00000397306:K1388N;ENSP00000439771:K439N	ENSP00000277225:K2482N	K	+	3	2	ZNF462	108813057	0.998000	0.40836	0.994000	0.49952	0.982000	0.71751	2.174000	0.42482	1.439000	0.47511	0.655000	0.94253	AAG		0.413	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	19	0	0	0	8.12818e-05	0	6	19				
RABEPK	10244	broad.mit.edu	37	9	127969995	127969995	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr9:127969995A>G	ENST00000373538.3	+	3	516	c.206A>G	c.(205-207)gAt>gGt	p.D69G	RABEPK_ENST00000394125.4_Missense_Mutation_p.D69G|RABEPK_ENST00000394124.4_Missense_Mutation_p.D69G|RABEPK_ENST00000259460.8_Missense_Mutation_p.D69G|RABEPK_ENST00000373544.1_Missense_Mutation_p.D69G	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	69					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CACACCATGGATCTGGGTAAG	0.507																																							uc004bpi.2		NA																	0				ovary(1)	1						c.(205-207)GAT>GGT		Rab9 effector protein with kelch motifs							113.0	100.0	105.0					9																	127969995		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127969995A>G	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.206A>G	9.37:g.127969995A>G	ENSP00000362639:p.Asp69Gly					RABEPK_uc004bph.1_Missense_Mutation_p.D69G|RABEPK_uc004bpj.2_Missense_Mutation_p.D69G|RABEPK_uc004bpk.2_Missense_Mutation_p.D69G|RABEPK_uc004bpl.1_Missense_Mutation_p.D69G|RABEPK_uc004bpm.2_Missense_Mutation_p.D69G	p.D69G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			4	379	+			69			Kelch 1.		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.206A>G	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259498	0.80246	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.72	5.72	0.89469	Galactose oxidase, beta-propeller (1);	0.099859	0.64402	D	0.000002	D	0.82563	0.5064	L	0.55481	1.735	0.51012	D	0.999901	D;P;D;D	0.71674	0.992;0.887;0.992;0.998	P;P;P;D	0.69824	0.802;0.638;0.802;0.966	D	0.84007	0.0346	10	0.66056	D	0.02	-15.8273	13.9726	0.64250	1.0:0.0:0.0:0.0	.	69;69;69;69	A8K403;Q7Z6M1-2;Q7Z6M1;Q5T1S4	.;.;RABEK_HUMAN;.	G	69;69;69;69;69;152	ENSP00000377683:D69G;ENSP00000259460:D69G;ENSP00000362645:D69G;ENSP00000377682:D69G;ENSP00000362639:D69G;ENSP00000402234:D152G	ENSP00000259460:D69G	D	+	2	0	RABEPK	127009816	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.915000	0.75770	2.194000	0.70268	0.533000	0.62120	GAT		0.507	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		10	78	0	0	0	0.000673444	0	10	78				
Unknown	0	broad.mit.edu	37	X	71380019	71380019	+	IGR	SNP	A	A	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chrX:71380019A>C								BX119917.1 (7755 upstream) : PIN4 (21506 downstream)																							ACAGAGACCAAAAAGAGTAAA	0.378																																							uc004eal.1		NA																	0				lung(1)	1						c.(340-342)AAA>CAA		hypothetical protein LOC392490							82.0	76.0	78.0					X																	71380019		2203	4300	6503	SO:0001628	intergenic_variant	392490							g.chrX:71380019A>C																													X.37:g.71380019A>C							p.K114Q	NM_207422	NP_997305	Q56UQ5	TPT1L_HUMAN			2	688	+	Renal(35;0.156)		114						Missense_Mutation	SNP		37	c.340A>C																																																																																				0	0.378									9	98	0	0	0	0.000442599	0	9	98				
LPAR4	2846	broad.mit.edu	37	X	78010493	78010493	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chrX:78010493G>A	ENST00000435339.3	+	2	513	c.127G>A	c.(127-129)Ggt>Agt	p.G43S		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	43					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAATCTCAATGGTGCTGTCTA	0.408																																							uc010nme.2		NA																	0				ovary(3)	3						c.(127-129)GGT>AGT		lysophosphatidic acid receptor 4							349.0	286.0	307.0					X																	78010493		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010493G>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.127G>A	X.37:g.78010493G>A	ENSP00000408205:p.Gly43Ser						p.G43S	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	532	+			43			Extracellular (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.127G>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575499	0.28092	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37752	1.18;1.18	4.32	4.32	0.51571	.	0.156058	0.41097	D	0.000960	T	0.28167	0.0695	L	0.38175	1.15	0.45318	D	0.998311	B	0.28880	0.226	B	0.27380	0.079	T	0.06215	-1.0839	10	0.18710	T	0.47	.	14.6307	0.68653	0.0:0.0:1.0:0.0	.	43	Q99677	LPAR4_HUMAN	S	43	ENSP00000408205:G43S;ENSP00000362398:G43S	ENSP00000362398:G43S	G	+	1	0	LPAR4	77897149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.638000	0.67861	2.003000	0.58678	0.422000	0.28245	GGT		0.408	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		21	261	0	0	0	0.000295444	0	21	261				
MCTS1	28985	broad.mit.edu	37	X	119739377	119739377	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chrX:119739377A>G	ENST00000371317.5	+	2	384	c.127A>G	c.(127-129)Atc>Gtc	p.I43V	MCTS1_ENST00000371315.3_Missense_Mutation_p.I44V|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	43					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						GCTTAATCAAATCATGCCTAA	0.343																																							uc004esx.2		NA																	0					0						c.(127-129)ATC>GTC		malignant T cell amplified sequence 1 isoform 1							89.0	89.0	89.0					X																	119739377		2203	4296	6499	SO:0001583	missense	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119739377A>G	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.127A>G	X.37:g.119739377A>G	ENSP00000360367:p.Ile43Val					MCTS1_uc011mub.1_Missense_Mutation_p.I44V	p.I43V	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN			2	475	+			43					B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	c.127A>G	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098305	0.37048	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.46451	0.87;0.87	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.43554	1.36	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.11131	-1.0600	9	.	.	.	-13.838	13.0665	0.59036	1.0:0.0:0.0:0.0	.	44;43	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	V	43;44	ENSP00000360367:I43V;ENSP00000360365:I44V	.	I	+	1	0	MCTS1	119623405	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.210000	0.95106	1.676000	0.50930	0.417000	0.27973	ATC		0.343	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		4	139	0	0	0	0.00024832	0	4	139				
GRIA3	2892	broad.mit.edu	37	X	122598956	122598956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chrX:122598956G>C	ENST00000371251.1	+	13	2369	c.2317G>C	c.(2317-2319)Gca>Cca	p.A773P	GRIA3_ENST00000264357.5_Missense_Mutation_p.A773P|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000542149.1_Missense_Mutation_p.A773P|GRIA3_ENST00000371256.5_Missense_Mutation_p.A773P			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	773					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TAAAGGCTCAGCATTAAGGTG	0.398																																							uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2317-2319)GCA>CCA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						114.0	105.0	108.0					X																	122598956		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122598956G>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2317G>C	X.37:g.122598956G>C	ENSP00000360297:p.Ala773Pro					GRIA3_uc004etr.3_Missense_Mutation_p.A773P|GRIA3_uc004ets.3_RNA	p.A773P	NM_007325	NP_015564	P42263	GRIA3_HUMAN			14	2610	+			773			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2317G>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	g	10.08	1.251823	0.22880	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.37	4.31	0.51392	Ionotropic glutamate receptor (2);	0.046961	0.85682	D	0.000000	T	0.10252	0.0251	N	0.00064	-2.31	0.80722	D	1	P;P	0.51933	0.949;0.937	P;P	0.56514	0.8;0.698	T	0.46871	-0.9160	10	0.02654	T	1	.	12.9328	0.58296	0.0967:0.0:0.9033:0.0	.	773;773	P42263;P42263-2	GRIA3_HUMAN;.	P	773	ENSP00000264357:A773P;ENSP00000446146:A773P;ENSP00000360302:A773P;ENSP00000360297:A773P	ENSP00000264357:A773P	A	+	1	0	GRIA3	122426637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.228000	0.72767	0.411000	0.27672	GCA		0.398	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		5	75	0	0	0	0.000602214	0	5	75				
PRPF40A	55660	broad.mit.edu	37	2	153547493	153547494	+	Splice_Site	INS	-	-	A			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr2:153547493_153547494insA	ENST00000410080.1	-	5	870		c.e5-1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						GATGCTGTACCTAAAAAATAAA	0.267																																							uc002tyi.2		NA																	0					0						c.e5-1		formin binding protein 3																																				SO:0001630	splice_region_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153547493_153547494insA	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.329-1->T	2.37:g.153547493_153547494insA						PRPF40A_uc002tyh.3_Splice_Site_p.G110_splice|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Splice_Site_p.G6_splice|PRPF40A_uc002tyl.1_Splice_Site_p.G137_splice	p.G137_splice	NM_017892	NP_060362	O75400	PR40A_HUMAN			5	423	-								O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	INS	ENST00000410080.1	37	c.410_splice	CCDS46430.1																																																																																				0.267	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	Intron	2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242468	55242482	+	In_Frame_Del	DEL	ATTAAGAGAAGCAAC	ATTAAGAGAAGCAAC	-	rs397517100|rs121913438|rs121913439|rs397517099|rs397517098|rs397517097|rs397517096|rs397517095|rs397517094|rs121913435|rs121913436|rs121913437|rs397509368|rs121913229|rs121913441|rs121913440|rs121913442|rs121913423|rs121913422|rs121913421|rs121913426|rs121913425|rs121913424		TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	ATTAAGAGAAGCAAC	ATTAAGAGAAGCAAC	-	-	ATTAAGAGAAGCAAC	ATTAAGAGAAGCAAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr7:55242468_55242482delATTAAGAGAAGCAAC	ENST00000275493.2	+	19	2415_2429	c.2238_2252delATTAAGAGAAGCAAC	c.(2236-2253)gaattaagagaagcaaca>gaa	p.LREAT747del	EGFR_ENST00000454757.2_In_Frame_Del_p.LREAT694del|EGFR_ENST00000455089.1_In_Frame_Del_p.LREAT702del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	747	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|L -> F (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.T751_I759>N(8)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.L747S(6)|p.K745_E749del(6)|p.E746_T751>V(6)|p.E746_S752>A(6)|p.T751I(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.T751_I759>S(3)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.T751_I759del(2)|p.L747_K754>ST(1)|p.A750_K754del(1)|p.T751_I759>REA(1)|p.L747_P753del(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTATCAAGGAATTAAGAGAAGCAACATCTCCGAAA	0.479	E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|L747_P753>Q(HCC4006_LUNG)|E746_A750del(PC14_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1583	Deletion - In frame(1163)|Complex - deletion inframe(400)|Substitution - Missense(19)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(166)|p.L747_A750>P(115)|p.L747_T751del(114)|p.E746_S752>V(67)|p.L747_S752del(64)|p.L747_T751>P(33)|p.E746_T751>A(30)|p.L747_E749del(26)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.E746_T751del(18)|p.K745_E749del(14)|p.L747_T751>S(12)|p.E746_E749del(12)|p.L747_A750del(11)|p.E746_S752del(10)|p.L747_T751>Q(7)|p.E746_P753>VS(6)|p.T751_I759>N(5)|p.E746_A750>IP(5)|p.L747P(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.T751I(5)|p.L747S(4)|p.E746_A750>QP(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.T751_I759>S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.L747del(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.L747_S752>QH(2)|p.E746_T751>L(2)|p.L747_T751>A(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_S752>T(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.A750_K754del(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_A755del(1)|p.E746_A750>EP(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_S752>V(1)|p.L747_N756>SKDD(1)|p.L747_E749>C(1)|p.E746_P753>LS(1)|p.L747_T751>F(1)|p.E746_P753>VQ(1)|p.L747_P753>CG(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746V(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746_T751>P(1)|p.L747_K754del(1)|p.R748I(1)|p.L747_T751>N(1)|p.E746_A750>KP(1)|p.T751_I759>REA(1)|p.L747_S752>QR(1)|p.L747_K754>GC(1)|p.T751_E758del(1)|p.L747_A755>SKS(1)	lung(1554)|upper_aerodigestive_tract(8)|salivary_gland(6)|thyroid(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|breast(2)|ovary(2)|prostate(2)|central_nervous_system(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2236-2253)GAATTAAGAGAAGCAACA>GAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242468_55242482delATTAAGAGAAGCAAC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2238_2252delATTAAGAGAAGCAAC	7.37:g.55242468_55242482delATTAAGAGAAGCAAC	ENSP00000275493:p.Leu747_Thr751del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.LREAT702del|EGFR_uc011kco.1_In_Frame_Del_p.LREAT694del	p.LREAT747del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2484_2498	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		747_751			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2238_2252delATTAAGAGAAGCAAC	CCDS5514.1																																																																																				0.479	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		66	108	NA	NA	NA	NA	NA	66	108	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95538800	95538800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6981-01A-11D-1945-08	TCGA-55-6981-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	89a3a647-cf21-447f-9df3-9e563662e076	468bfcb8-eaa3-4e1e-b4ee-f673d3531d54	g.chr8:95538800delG	ENST00000297591.5	-	8	1747	c.1672delC	c.(1672-1674)catfs	p.H558fs	KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.H558fs|KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.H558fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	558					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCATAGAAATGGCATTTTTGG	0.398																																							uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(1672-1674)CATfs		hypothetical protein LOC25962 isoform 1							115.0	114.0	114.0					8																	95538800		2203	4300	6503	SO:0001589	frameshift_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538800delG	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1672delC	8.37:g.95538800delG	ENSP00000297591:p.His558fs					KIAA1429_uc003ygp.2_Frame_Shift_Del_p.H558fs|KIAA1429_uc010maz.1_RNA	p.H558fs	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1685	-	Breast(36;3.29e-05)		558					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Del	DEL	ENST00000297591.5	37	c.1672delC	CCDS34923.1																																																																																				0.398	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		50	118	NA	NA	NA	NA	NA	50	118	---	---	---	---
