#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
RPS6KA1	6195	broad.mit.edu	37	1	26885365	26885365	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:26885365C>T	ENST00000374168.2	+	14	1306	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	RPS6KA1_ENST00000530003.1_Silent_p.T368T|RPS6KA1_ENST00000531382.1_Silent_p.T393T|RPS6KA1_ENST00000374166.4_Silent_p.T373T|RPS6KA1_ENST00000374162.2_Silent_p.T292T|RPS6KA1_ENST00000526792.1_Silent_p.T292T	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	384	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCGTGGCCACCGGCCTGATGG	0.647																																						uc001bmr.1																			0				lung(1)	1						c.(1150-1152)acC>acT		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.							47.0	47.0	47.0					1																	26885365		2203	4300	6503	SO:0001819	synonymous_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885365C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1152C>T	1.37:g.26885365C>T						RPS6KA1_uc010ofe.1_Silent_p.T292T|RPS6KA1_uc010off.1_Silent_p.T368T|RPS6KA1_uc001bms.1_Silent_p.T393T|RPS6KA1_uc009vsl.1_Silent_p.T227T	p.T384T	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	13	1315	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	384			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	c.1152C>T	CCDS284.1																																																																																				0.647	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953	
MACF1	23499	broad.mit.edu	37	1	39549978	39549978	+	Missense_Mutation	SNP	C	C	T	rs537793971		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:39549978C>T	ENST00000372915.3	+	1	175	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	MACF1_ENST00000567887.1_Missense_Mutation_p.R30W|MACF1_ENST00000539005.1_Missense_Mutation_p.R30W|MACF1_ENST00000361689.2_Missense_Mutation_p.R30W|MACF1_ENST00000317713.7_Missense_Mutation_p.R30W|MACF1_ENST00000602421.1_Missense_Mutation_p.R30W|MACF1_ENST00000484793.1_Missense_Mutation_p.R30W|MACF1_ENST00000545844.1_Missense_Mutation_p.R30W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	30	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGAGCGAGCGGTCGGGGAG	0.612																																						uc010oir.2																			0		p.I25V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(73-75)agC>agT		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							61.0	54.0	56.0					1																	39549978		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39549978C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.88C>T	1.37:g.39549978C>T	ENSP00000362006:p.Arg30Trp					MACF1_uc021ols.1_Missense_Mutation_p.R30W|MACF1_uc001cdc.2_Missense_Mutation_p.R30W|MACF1_uc021olt.1_Missense_Mutation_p.R30W	p.S25S			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	267	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	0			Actin-binding.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.75C>T		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726047	0.48833	.	.	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	T;T;T;T;T	0.67523	-0.24;-0.2;-0.24;-0.27;-0.08	5.35	3.41	0.39046	.	.	.	.	.	T	0.61788	0.2375	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.66114	-0.6004	9	0.87932	D	0	.	10.8473	0.46751	0.3975:0.6025:0.0:0.0	.	30	F8W8Q1	.	W	30;30;30;30;46;30;30	ENSP00000439537:R30W;ENSP00000362006:R30W;ENSP00000354573:R30W;ENSP00000313438:R30W;ENSP00000444364:R30W	ENSP00000313438:R30W	R	+	1	2	MACF1	39322565	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.412000	0.21131	0.561000	0.29186	-0.274000	0.10170	CGG		0.612	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MAB21L3	126868	broad.mit.edu	37	1	116666899	116666899	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:116666899C>T	ENST00000369500.3	+	4	667	c.402C>T	c.(400-402)gaC>gaT	p.D134D	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	134										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGAACATCGACGGAGACATTG	0.552																																						uc001egc.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(400-402)gaC>gaT		Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.							121.0	110.0	113.0					1																	116666899		2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116666899C>T	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.402C>T	1.37:g.116666899C>T							p.D134D	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN			3	667	+			134					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.402C>T	CCDS886.1																																																																																				0.552	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367	
PDE4DIP	9659	broad.mit.edu	37	1	144873981	144873981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:144873981G>T	ENST00000369354.3	-	31	5165	c.4976C>A	c.(4975-4977)tCa>tAa	p.S1659*	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S1659*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S1615*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.S1795*|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1659					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGGTTGATGATGGTTTAGA	0.473			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4975-4977)tCa>tAa		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							419.0	425.0	423.0					1																	144873981		2203	4297	6500	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144873981G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4976C>A	1.37:g.144873981G>T	ENSP00000358360:p.Ser1659*					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.S1659*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.S1615*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.S666*	p.S1659*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	5278	-			1659					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.4976C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	46	12.962675	0.99709	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	.	.	.	5.27	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	11.8752	0.52544	0.0:0.175:0.825:0.0	.	.	.	.	X	1615;1659;1659;1795	.	ENSP00000327209:S1615X	S	-	2	0	PDE4DIP	143585338	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.816000	0.62642	1.438000	0.47492	0.650000	0.86243	TCA		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
MTMR11	10903	broad.mit.edu	37	1	149901596	149901596	+	Silent	SNP	T	T	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:149901596T>C	ENST00000439741.2	-	16	2110	c.1860A>G	c.(1858-1860)ccA>ccG	p.P620P	MTMR11_ENST00000369140.3_Silent_p.P548P|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR|SF3B4_ENST00000271628.8_5'Flank	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	620	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGCAGCCCTGGAGGTAAAG	0.587																																						uc001etl.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1858-1860)ccA>ccG		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.							77.0	82.0	81.0					1																	149901596		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149901596T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1860A>G	1.37:g.149901596T>C						SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.P548P	p.P620P	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		15	2111	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		620			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.1860A>G	CCDS53360.1																																																																																				0.587	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
NTRK1	4914	broad.mit.edu	37	1	156836717	156836717	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:156836717C>T	ENST00000524377.1	+	4	416	c.375C>T	c.(373-375)aaC>aaT	p.N125N	NTRK1_ENST00000368196.3_Silent_p.N125N|NTRK1_ENST00000358660.3_Silent_p.N125N|NTRK1_ENST00000392302.2_Silent_p.N95N	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	125					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCTCCTTCAACGCTCTGGAGT	0.587			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(373-375)aaC>aaT		Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	Imatinib(DB00619)						106.0	94.0	98.0					1																	156836717		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156836717C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.375C>T	1.37:g.156836717C>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	p.N125N	NM_002529	NP_002520	P04629	NTRK1_HUMAN			3	431	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		125					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.375C>T	CCDS1161.1																																																																																				0.587	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
FCRL2	79368	broad.mit.edu	37	1	157739709	157739709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:157739709G>A	ENST00000361516.3	-	4	590	c.542C>T	c.(541-543)aCg>aTg	p.T181M	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.T181M|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	181	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGAGTCACCGTTTCTGCCTT	0.527																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(541-543)aCg>aTg		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							91.0	90.0	91.0					1																	157739709		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739709G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.542C>T	1.37:g.157739709G>A	ENSP00000355157:p.Thr181Met					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T181M|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.T181M	p.T181M	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	601	-	all_hematologic(112;0.0378)		181			Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.542C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537985	0.45176	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.11821	2.74;2.74	4.49	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.428606	0.17020	N	0.190153	T	0.21103	0.0508	M	0.85777	2.775	0.09310	N	1	D;D;D	0.76494	0.999;0.996;0.99	D;D;D	0.72982	0.979;0.913;0.913	T	0.05084	-1.0907	10	0.59425	D	0.04	.	5.9469	0.19223	0.1064:0.2043:0.6893:0.0	.	181;181;181	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	M	181	ENSP00000355157:T181M;ENSP00000376100:T181M	ENSP00000355157:T181M	T	-	2	0	FCRL2	156006333	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.895000	0.28363	0.594000	0.29761	0.655000	0.94253	ACG		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764	
FCAMR	83953	broad.mit.edu	37	1	207135779	207135779	+	Missense_Mutation	SNP	C	C	T	rs374305028		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:207135779C>T	ENST00000324852.4	-	5	905	c.431G>A	c.(430-432)cGt>cAt	p.R144H	FCAMR_ENST00000400962.3_Missense_Mutation_p.R144H|FCAMR_ENST00000450945.2_Missense_Mutation_p.R144H|FCAMR_ENST00000486178.1_5'Flank	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	99	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGCCCCAGACGGCACCAGTA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19084	0.0		0.0	False		,,,				2504	0.001				Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(430-432)cGt>cAt		Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3136		0,0,1568	56.0	55.0	55.0		431,431,431	5.3	1.0	1		55	1,7163		0,1,3581	no	missense,missense,missense	FCAMR	NM_001122979.2,NM_001170631.1,NM_032029.4	29,29,29	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	probably-damaging,probably-damaging,probably-damaging	144/266,144/578,144/266	207135779	1,10299	1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135779C>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.431G>A	1.37:g.207135779C>T	ENSP00000316491:p.Arg144His					FCAMR_uc001hfb.3_Missense_Mutation_p.R144H|FCAMR_uc009xca.2_Missense_Mutation_p.R144H|FCAMR_uc021pig.1_Missense_Mutation_p.R59H	p.R144H	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN			4	931	-			99			Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.431G>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768991	0.90020	0.0	1.4E-4	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.70749	-0.51;-0.51;-0.51	5.32	5.32	0.75619	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000017	D	0.84665	0.5522	M	0.83692	2.655	0.39545	D	0.96887	D;D;D;D	0.89917	1.0;1.0;0.993;1.0	D;D;D;D	0.97110	0.999;1.0;0.924;0.999	D	0.87256	0.2276	10	0.66056	D	0.02	-18.3973	14.5363	0.67963	0.0:1.0:0.0:0.0	.	99;119;99;99	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	H	144;144;144;120	ENSP00000383746:R144H;ENSP00000316491:R144H;ENSP00000392707:R144H	ENSP00000316491:R144H	R	-	2	0	FCAMR	205202402	0.794000	0.28838	0.953000	0.39169	0.982000	0.71751	1.138000	0.31491	2.495000	0.84180	0.655000	0.94253	CGT		0.582	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029	
PCNXL2	80003	broad.mit.edu	37	1	233231513	233231513	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:233231513A>G	ENST00000258229.9	-	22	4168	c.3934T>C	c.(3934-3936)Ttt>Ctt	p.F1312L		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1312						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAATGGCAAAGAGCTGAGCA	0.473																																						uc001hvl.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3934-3936)Ttt>Ctt		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							77.0	80.0	79.0					1																	233231513		1983	4153	6136	SO:0001583	missense	80003					integral to membrane		g.chr1:233231513A>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3934T>C	1.37:g.233231513A>G	ENSP00000258229:p.Phe1312Leu					PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	p.F1312L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			21	4169	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1312					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3934T>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.151983	0.78001	.	.	ENSG00000135749	ENST00000258229;ENST00000484347	T	0.09817	2.94	6.17	5.04	0.67666	.	0.046168	0.85682	D	0.000000	T	0.12433	0.0302	L	0.38838	1.175	0.80722	D	1	P	0.41475	0.751	B	0.42522	0.39	T	0.02214	-1.1194	10	0.49607	T	0.09	.	13.7562	0.62937	0.8718:0.1282:0.0:0.0	.	1312	A6NKB5	PCX2_HUMAN	L	1312;148	ENSP00000258229:F1312L	ENSP00000258229:F1312L	F	-	1	0	PCNXL2	231298136	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.287000	0.72671	1.127000	0.42034	0.533000	0.62120	TTT		0.473	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
C1orf100	200159	broad.mit.edu	37	1	244528021	244528021	+	Nonsense_Mutation	SNP	C	C	T	rs200838303		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:244528021C>T	ENST00000308105.4	+	2	132	c.19C>T	c.(19-21)Cga>Tga	p.R7*	C1orf100_ENST00000366537.1_Nonsense_Mutation_p.R7*	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	7										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			CATCCGACTACGAGAATTTAT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		17822	0.0		0.0	False		,,,				2504	0.001					uc001iah.3																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7						c.(19-21)Cga>Tga		Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA.		C	stop/ARG	0,4406		0,0,2203	130.0	127.0	128.0		19	1.5	0.4	1		128	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C1orf100	NM_001012970.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/148	244528021	1,13005	2203	4300	6503	SO:0001587	stop_gained	200159							g.chr1:244528021C>T	BC054479	CCDS31079.1, CCDS60465.1	1q44	2008-02-05			ENSG00000173728	ENSG00000173728			30435	protein-coding gene	gene with protein product							Standard	NM_001276348		Approved		uc001iah.4	Q5SVJ3	OTTHUMG00000040104	ENST00000308105.4:c.19C>T	1.37:g.244528021C>T	ENSP00000311218:p.Arg7*					C1orf100_uc001iai.3_Nonsense_Mutation_p.R7*	p.R7*	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)		1	132	+	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		7					Q5SVJ4	Nonsense_Mutation	SNP	ENST00000308105.4	37	c.19C>T	CCDS31079.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224000	0.95139	0.0	1.16E-4	ENSG00000173728	ENST00000366537;ENST00000308105	.	.	.	4.78	1.49	0.22878	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4705	10.7933	0.46445	0.5874:0.4126:0.0:0.0	.	.	.	.	X	7	.	ENSP00000311218:R7X	R	+	1	2	C1orf100	242594644	0.544000	0.26441	0.417000	0.26559	0.873000	0.50193	0.668000	0.25127	0.174000	0.19809	0.650000	0.86243	CGA		0.468	C1orf100-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096712.1	NM_001012970	
OR2T10	127069	broad.mit.edu	37	1	248756435	248756435	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:248756435G>A	ENST00000330500.2	-	1	665	c.635C>T	c.(634-636)aCg>aTg	p.T212M	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAATGACCGTCACAGGTAT	0.458																																						uc010pzn.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(634-636)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.							88.0	88.0	88.0					1																	248756435		2054	4235	6289	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756435G>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.635C>T	1.37:g.248756435G>A	ENSP00000329210:p.Thr212Met						p.T212M	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	635	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		212					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.635C>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	0.604	-0.827925	0.02734	.	.	ENSG00000184022	ENST00000330500	T	0.37752	1.18	2.35	-0.0542	0.13815	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17238	0.0414	N	0.16567	0.415	0.09310	N	1	B	0.32829	0.386	B	0.25884	0.064	T	0.14643	-1.0465	9	0.52906	T	0.07	.	4.0595	0.09832	0.3059:0.2008:0.4932:0.0	.	212	Q8NGZ9	O2T10_HUMAN	M	212	ENSP00000329210:T212M	ENSP00000329210:T212M	T	-	2	0	OR2T10	246823058	0.000000	0.05858	0.042000	0.18584	0.018000	0.09664	-0.601000	0.05687	0.179000	0.19938	0.447000	0.29281	ACG		0.458	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
OR52K1	390036	broad.mit.edu	37	11	4511035	4511035	+	Missense_Mutation	SNP	G	G	A	rs572972458		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4511035G>A	ENST00000307632.3	+	1	927	c.905G>A	c.(904-906)cGt>cAt	p.R302H		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGCAGATTCGTGAGTATGTG	0.433													A|||	1	0.000199681	0.0	0.0	5008	,	,		23238	0.0		0.0	False		,,,				2504	0.001					uc001lza.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32						c.(904-906)cGt>cAt		Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.							123.0	114.0	117.0					11																	4511035		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4511035G>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.905G>A	11.37:g.4511035G>A	ENSP00000302422:p.Arg302His						p.R302H	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	927	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	302					B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.905G>A	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	g	2.684	-0.274672	0.05679	.	.	ENSG00000196778	ENST00000307632	T	0.58358	0.34	4.5	2.64	0.31445	.	0.138923	0.33217	N	0.005149	T	0.49184	0.1542	M	0.72353	2.195	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.50329	-0.8841	10	0.66056	D	0.02	.	9.3374	0.38058	0.1932:0.0:0.8068:0.0	.	302	Q8NGK4	O52K1_HUMAN	H	302	ENSP00000302422:R302H	ENSP00000302422:R302H	R	+	2	0	OR52K1	4467611	0.001000	0.12720	0.732000	0.30844	0.041000	0.13682	0.201000	0.17276	0.651000	0.30788	-1.857000	0.00563	CGT		0.433	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171	
OR51F1	256892	broad.mit.edu	37	11	4790947	4790947	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4790947C>A	ENST00000380383.1	-	1	221	c.222G>T	c.(220-222)agG>agT	p.R74S	OR51F1_ENST00000343430.3_Missense_Mutation_p.R67S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	74			R -> M (in dbSNP:rs11033800).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGCTGATAGCCTGAAGAGGA	0.443																																						uc010qyl.2																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(199-201)agG>agT		Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.							69.0	65.0	67.0					11																	4790947		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790947C>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.222G>T	11.37:g.4790947C>A	ENSP00000369744:p.Arg74Ser						p.R67S	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	201	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	67						Missense_Mutation	SNP	ENST00000380383.1	37	c.201G>T		.	.	.	.	.	.	.	.	.	.	C	10.06	1.246983	0.22796	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.02916	4.11;4.11	4.81	0.607	0.17564	GPCR, rhodopsin-like superfamily (1);	0.189083	0.36628	N	0.002497	T	0.00936	0.0031	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47032	-0.9148	10	0.87932	D	0	.	3.6855	0.08327	0.1329:0.5953:0.1291:0.1427	.	74	A6NGY5	O51F1_HUMAN	S	67;74	ENSP00000345163:R67S;ENSP00000369744:R74S	ENSP00000345163:R67S	R	-	3	2	OR51F1	4747523	0.272000	0.24172	0.618000	0.29105	0.591000	0.36615	0.579000	0.23788	-0.039000	0.13602	0.585000	0.79938	AGG		0.443	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752	
RBMXL2	27288	broad.mit.edu	37	11	7111041	7111041	+	Silent	SNP	T	T	G	rs540744917		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:7111041T>G	ENST00000306904.5	+	1	877	c.690T>G	c.(688-690)ggT>ggG	p.G230G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	230	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCCCGGGGTTTTGCCCCCT	0.692																																						uc001mfc.2																			0		p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(688-690)ggT>ggG		Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.							15.0	17.0	16.0					11																	7111041		2185	4270	6455	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111041T>G	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.690T>G	11.37:g.7111041T>G							p.G230G	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	877	+			230			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.690T>G	CCDS7777.1																																																																																				0.692	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469	
PLEKHA7	144100	broad.mit.edu	37	11	16838834	16838834	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:16838834G>A	ENST00000355661.3	-	11	1389	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P460L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P460L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	460					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGATTGGCCAGGACCCTGGCG	0.602																																						uc010rcu.1																			0		p.G459S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1378-1380)cCt>cTt		Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.							44.0	50.0	48.0					11																	16838834		2193	4282	6475	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838834G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1379C>T	11.37:g.16838834G>A	ENSP00000347883:p.Pro460Leu					PLEKHA7_uc001mmo.3_Missense_Mutation_p.P460L|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P34L|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P168L	p.P460L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			10	1394	-			460					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1379C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047737	0.75846	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.09073	3.03;3.02;3.02	4.6	3.64	0.41730	.	0.227351	0.46145	D	0.000304	T	0.22513	0.0543	M	0.71871	2.18	0.50039	D	0.999841	P;D;P;D	0.64830	0.9;0.982;0.78;0.994	P;P;B;P	0.60117	0.553;0.743;0.335;0.869	T	0.01114	-1.1447	10	0.87932	D	0	-11.6653	12.3032	0.54887	0.0:0.0:0.8313:0.1687	.	34;460;460;460	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	L	460	ENSP00000435389:P460L;ENSP00000347883:P460L;ENSP00000416895:P460L	ENSP00000347883:P460L	P	-	2	0	PLEKHA7	16795410	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	6.341000	0.72977	2.119000	0.64992	0.462000	0.41574	CCT		0.602	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058	
CD44	960	broad.mit.edu	37	11	35227763	35227763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:35227763C>T	ENST00000428726.2	+	11	1510	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Nonsense_Mutation_p.R420*|CD44_ENST00000433354.2_Nonsense_Mutation_p.R464*|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.R463*|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Nonsense_Mutation_p.R420*|CD44_ENST00000360158.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	463	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CCCCATGGGACGAGGTCATCA	0.443																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1387-1389)Cga>Tga		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						200.0	170.0	180.0					11																	35227763		2202	4298	6500	SO:0001587	stop_gained	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227763C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1387C>T	11.37:g.35227763C>T	ENSP00000398632:p.Arg463*					CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.R420*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Nonsense_Mutation_p.R27*|CD44_uc010ret.2_Intron	p.R463*	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		10	1821	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	463			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	ENST00000428726.2	37	c.1387C>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185992|3.185992	0.57909|0.57909	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110|ENST00000526553	.|.	.|.	.|.	4.85|4.85	1.81|1.81	0.25067|0.25067	.|.	2.373210|.	0.01491|.	N|.	0.017089|.	.|T	.|0.30916	.|0.0780	.|.	.|.	.|.	0.27371|0.27371	N|N	0.9557|0.9557	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22871	.|-1.0204	.|4	0.02654|.	T|.	1|.	-6.1286|-6.1286	5.5014|5.5014	0.16831|0.16831	0.3526:0.5536:0.0:0.0938|0.3526:0.5536:0.0:0.0938	.|.	.|.	.|.	.|.	X|M	420;464;420;463;463;237;175|115	.|.	ENSP00000389830:R420X|.	R|T	+|+	1|2	2|0	CD44|CD44	35184339|35184339	0.535000|0.535000	0.26370|0.26370	0.323000|0.323000	0.25347|0.25347	0.002000|0.002000	0.02628|0.02628	0.666000|0.666000	0.25097|0.25097	0.288000|0.288000	0.22398|0.22398	-0.136000|-0.136000	0.14681|0.14681	CGA|ACG		0.443	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610	
OR4C16	219428	broad.mit.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	rs374191202		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.001					uc010rih.2																			3	Substitution - Missense(3)	p.R31H(4)|p.R31L(2)	prostate(2)|lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(91-93)cGt>cAt		Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.							189.0	177.0	181.0					11																	55339695		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339695G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His						p.R31H	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			0	92	+		all_epithelial(135;0.0748)	31					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.92G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701	
FOLR1	2348	broad.mit.edu	37	11	71906672	71906672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:71906672G>A	ENST00000393679.1	+	4	810	c.374G>A	c.(373-375)cGc>cAc	p.R125H	FOLR1_ENST00000393676.3_Missense_Mutation_p.R125H|FOLR1_ENST00000312293.4_Missense_Mutation_p.R125H|FOLR1_ENST00000393681.2_Missense_Mutation_p.R125H|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	125	Folate binding.				cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CAGAGCTGGCGCAAAGAGCGG	0.537																																						uc001orz.2																			0		p.R125C(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(373-375)cGc>cAc		Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.							69.0	62.0	65.0					11																	71906672		2200	4293	6493	SO:0001583	missense	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906672G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.374G>A	11.37:g.71906672G>A	ENSP00000377284:p.Arg125His					FOLR1_uc001osa.2_Missense_Mutation_p.R125H|FOLR1_uc001osb.2_Missense_Mutation_p.R125H|FOLR1_uc001osd.2_Missense_Mutation_p.R125H	p.R125H	NM_016724	NP_057941	P15328	FOLR1_HUMAN			4	650	+			125					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.374G>A	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	18.79	3.699092	0.68501	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.45	4.54	0.55810	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	M	0.92555	3.32	0.50467	D	0.999879	D	0.69078	0.997	D	0.63033	0.91	D	0.90891	0.4761	10	0.54805	T	0.06	-17.1837	13.2718	0.60165	0.0774:0.0:0.9226:0.0	.	125	P15328	FOLR1_HUMAN	H	125	ENSP00000308137:R125H;ENSP00000377286:R125H;ENSP00000377284:R125H;ENSP00000377281:R125H	ENSP00000308137:R125H	R	+	2	0	FOLR1	71584320	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	7.215000	0.77966	1.430000	0.47334	-0.253000	0.11424	CGC		0.537	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725	
TAS2R46	259292	broad.mit.edu	37	12	11214816	11214816	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:11214816G>A	ENST00000533467.1	-	1	77	c.78C>T	c.(76-78)ttC>ttT	p.F26F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	26					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCAATGCTATGAAGCCATTAG	0.363																																						uc001qzp.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(76-78)ttC>ttT		Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.							44.0	42.0	43.0					12																	11214816		1901	4181	6082	SO:0001819	synonymous_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214816G>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.78C>T	12.37:g.11214816G>A						PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.F26F	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	0	78	-			26					P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	c.78C>T	CCDS53748.1																																																																																				0.363	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887	
PIK3C2G	5288	broad.mit.edu	37	12	18576934	18576934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:18576934G>A	ENST00000266497.5	+	16	2380	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R781H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R822H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	781	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.R781H(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTACTCCACCGCTCCTTGCAG	0.428																																						uc001rdt.3																			1	Substitution - Missense(1)	p.R781H(2)	central_nervous_system(1)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2341-2343)cGc>cAc		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							74.0	69.0	71.0					12																	18576934		1880	4124	6004	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18576934G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2342G>A	12.37:g.18576934G>A	ENSP00000266497:p.Arg781His					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R822H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R600H	p.R781H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			16	2458	+		Hepatocellular(102;0.194)	781					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2342G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379441	0.82682	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.69175	-0.38;-0.38;-0.38	4.52	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.84428	0.5470	M	0.90369	3.11	0.50632	D	0.999884	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87167	0.2218	10	0.72032	D	0.01	-13.9359	15.5695	0.76323	0.0:0.0:1.0:0.0	.	821;822;781	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	781;781;822	ENSP00000404845:R781H;ENSP00000266497:R781H;ENSP00000445381:R822H	ENSP00000266497:R781H	R	+	2	0	PIK3C2G	18468201	0.770000	0.28543	1.000000	0.80357	0.940000	0.58332	2.407000	0.44565	2.805000	0.96524	0.460000	0.39030	CGC		0.428	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
ABCD2	225	broad.mit.edu	37	12	40012537	40012538	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:40012537_40012538insA	ENST00000308666.3	-	1	1015_1016	c.880_881insT	c.(880-882)tatfs	p.Y294fs		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	294	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGAGTGCACATACCGCAAATAG	0.406																																						uc001rmb.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(880-882)tatfs		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.																																				SO:0001589	frameshift_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012537_40012538insA	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.881dupT	12.37:g.40012538_40012538dupA	ENSP00000310688:p.Tyr294fs						p.Y294fs	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			0	1306_1307	-			294			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Frame_Shift_Ins	INS	ENST00000308666.3	37	c.880_881insT	CCDS8734.1																																																																																				0.406	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
AMDHD1	144193	broad.mit.edu	37	12	96354263	96354263	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:96354263C>T	ENST00000266736.2	+	5	781	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	225					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGGAAATACACGTGGACAATA	0.413																																						uc001tel.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(673-675)caC>caT		Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.							129.0	119.0	122.0					12																	96354263		2203	4300	6503	SO:0001819	synonymous_variant	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354263C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.675C>T	12.37:g.96354263C>T						AMDHD1_uc009zth.2_Silent_p.H116H	p.H225H	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN			4	781	+			225					A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	c.675C>T	CCDS9057.1																																																																																				0.413	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
DAO	1610	broad.mit.edu	37	12	109293195	109293195	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:109293195C>T	ENST00000228476.3	+	10	1060	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	DAO_ENST00000551281.1_Missense_Mutation_p.R220C	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	286					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CCGGCCAGTACGCCCCCAGAT	0.468																																						uc001tnr.4																			0		p.R286H(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(856-858)Cgc>Tgc		Homo sapiens D-amino-acid oxidase (DAO), mRNA.							42.0	36.0	38.0					12																	109293195		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109293195C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.856C>T	12.37:g.109293195C>T	ENSP00000228476:p.Arg286Cys					DAO_uc001tnq.4_Missense_Mutation_p.R220C|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	p.R286C	NM_001917	NP_001908	P14920	OXDA_HUMAN			9	1527	+			286					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.856C>T	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	c	16.06	3.014861	0.54468	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	T;T;T	0.81415	-1.49;-1.49;-1.49	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95311	0.8412	10	0.87932	D	0	-18.7759	16.0921	0.81098	0.0:1.0:0.0:0.0	.	286;269	P14920;Q7Z312	OXDA_HUMAN;.	C	220;286;163	ENSP00000446853:R220C;ENSP00000228476:R286C;ENSP00000449967:R163C	ENSP00000228476:R286C	R	+	1	0	DAO	107817324	1.000000	0.71417	0.484000	0.27391	0.089000	0.18198	5.977000	0.70492	2.409000	0.81822	0.542000	0.68232	CGC		0.468	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
NOS1	4842	broad.mit.edu	37	12	117768667	117768667	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:117768667G>A	ENST00000338101.4	-	1	212	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	NOS1_ENST00000317775.6_Missense_Mutation_p.R70W|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.R70W			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACCAAGGGCCGGCCGTTGACC	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0		p.R70Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(208-210)Cgg>Tgg		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						37.0	41.0	40.0					12																	117768667		1993	4141	6134	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768667G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.208C>T	12.37:g.117768667G>A	ENSP00000337459:p.Arg70Trp					NOS1_uc001twm.2_Missense_Mutation_p.R70W	p.R70W	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	1	919	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		70			Interaction with NOSIP (By similarity).|PDZ.			Missense_Mutation	SNP	ENST00000338101.4	37	c.208C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809362	0.70797	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.29142	1.58;1.58;1.58	4.91	3.03	0.35002	PDZ/DHR/GLGF (4);	0.170802	0.49916	D	0.000134	T	0.44435	0.1293	M	0.68952	2.095	0.41751	D	0.989665	D	0.71674	0.998	P	0.59056	0.851	T	0.37731	-0.9693	10	0.66056	D	0.02	-13.033	8.2843	0.31920	0.0772:0.0:0.4672:0.4555	.	70	P29475	NOS1_HUMAN	W	70	ENSP00000320758:R70W;ENSP00000339862:R70W;ENSP00000337459:R70W	ENSP00000320758:R70W	R	-	1	2	NOS1	116253050	1.000000	0.71417	0.974000	0.42286	0.934000	0.57294	2.962000	0.49176	0.617000	0.30160	0.555000	0.69702	CGG		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
OR4N5	390437	broad.mit.edu	37	14	20612259	20612259	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:20612259G>A	ENST00000333629.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTTTGACCGCTACATCGCC	0.478																																						uc010tla.2																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.							157.0	153.0	154.0					14																	20612259		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612259G>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.365G>A	14.37:g.20612259G>A	ENSP00000332110:p.Arg122His						p.R122H	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	0	365	+	all_cancers(95;0.00108)		122					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.365G>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157651	0.57368	.	.	ENSG00000184394	ENST00000333629	T	0.77489	-1.1	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	T	0.81178	0.4768	M	0.90019	3.08	0.43091	D	0.994769	B	0.19331	0.035	B	0.14023	0.01	T	0.83202	-0.0078	10	0.87932	D	0	.	13.985	0.64328	0.0:0.0:1.0:0.0	.	122	Q8IXE1	OR4N5_HUMAN	H	122	ENSP00000332110:R122H	ENSP00000332110:R122H	R	+	2	0	OR4N5	19682099	0.946000	0.32159	1.000000	0.80357	0.814000	0.46013	5.365000	0.66116	2.219000	0.72066	0.655000	0.94253	CGC		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1		
MYH6	4624	broad.mit.edu	37	14	23855760	23855760	+	Missense_Mutation	SNP	C	C	T	rs371067114		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:23855760C>T	ENST00000356287.3	-	32	4752	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.E1575K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1575					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCCGCTCGATCTCTGCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18157	0.0		0.0	False		,,,				2504	0.001					uc001wjv.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4723-4725)Gag>Aag		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	156.0	164.0	161.0		4723	4.3	1.0	14		161	0,8600		0,0,4300	no	missense	MYH6	NM_002471.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1575/1940	23855760	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855760C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4723G>A	14.37:g.23855760C>T	ENSP00000348634:p.Glu1575Lys						p.E1575K	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	32	4794	-	all_cancers(95;2.54e-05)		1575					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4723G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	33	5.242403	0.95272	2.27E-4	0.0	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84660	-1.88;-1.88	4.26	4.26	0.50523	Myosin tail (1);	.	.	.	.	D	0.88966	0.6581	M	0.83118	2.625	0.52099	D	0.999947	P	0.47910	0.902	P	0.47346	0.544	D	0.91588	0.5284	9	0.87932	D	0	.	17.0404	0.86488	0.0:1.0:0.0:0.0	.	1575	P13533	MYH6_HUMAN	K	1575	ENSP00000386041:E1575K;ENSP00000348634:E1575K	ENSP00000348634:E1575K	E	-	1	0	MYH6	22925600	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	6.005000	0.70716	2.052000	0.61016	0.561000	0.74099	GAG		0.647	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
ATL1	51062	broad.mit.edu	37	14	51080061	51080061	+	Missense_Mutation	SNP	C	C	T	rs119476046		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:51080061C>T	ENST00000358385.6	+	7	956	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	ATL1_ENST00000357032.3_Missense_Mutation_p.R239C|ATL1_ENST00000354525.4_Missense_Mutation_p.R239C|ATL1_ENST00000441560.2_Missense_Mutation_p.R239C	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	239	GB1/RHD3-type G.		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology). {ECO:0000269|PubMed:11685207, ECO:0000269|PubMed:20718791, ECO:0000269|PubMed:20932283}.		axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTTGGAAAAACGCCTCAAGGT	0.353																																						uc021rsw.1																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18	GRCh37	CM013290	ATL1	M	rs119476046	c.(715-717)Cgc>Tgc		Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.							81.0	83.0	82.0					14																	51080061		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51080061C>T	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.715C>T	14.37:g.51080061C>T	ENSP00000351155:p.Arg239Cys					ATL1_uc001wyd.4_Missense_Mutation_p.R239C|ATL1_uc001wyf.4_Missense_Mutation_p.R239C|ATL1_uc001wye.4_Missense_Mutation_p.R239C|ATL1_uc021rsx.1_Missense_Mutation_p.R239C	p.R239C	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN			6	956	+			239		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).			A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.715C>T	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856193	0.51376	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.27	4.38	0.52667	Guanylate-binding protein, N-terminal (1);	0.091324	0.64402	N	0.000001	T	0.57066	0.2028	M	0.78285	2.405	0.80722	A	1	P;P	0.41910	0.764;0.696	B;B	0.40864	0.342;0.232	T	0.70938	-0.4736	9	0.52906	T	0.07	-1.2288	7.8214	0.29290	0.2684:0.6542:0.0:0.0774	.	239;239	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	C	239	ENSP00000413675:R239C;ENSP00000351155:R239C;ENSP00000349534:R239C;ENSP00000346522:R239C	ENSP00000346522:R239C	R	+	1	0	ATL1	50149811	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.407000	0.44565	1.358000	0.45922	0.561000	0.74099	CGC		0.353	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2		
CLMN	79789	broad.mit.edu	37	14	95677055	95677055	+	Missense_Mutation	SNP	G	G	A	rs374926969		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:95677055G>A	ENST00000298912.4	-	7	883	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	257	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATGTGCAGGGCATCCTGTGC	0.483																																						uc001yef.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(769-771)gCc>gTc		Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	118.0	119.0		770	0.7	0.3	14		119	0,8600		0,0,4300	no	missense	CLMN	NM_024734.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	257/1003	95677055	1,13005	2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95677055G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.770C>T	14.37:g.95677055G>A	ENSP00000298912:p.Ala257Val						p.A257V	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	6	886	-			257			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.770C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695559	0.48202	2.27E-4	0.0	ENSG00000165959	ENST00000298912	D	0.95137	-3.62	6.03	0.74	0.18330	Calponin homology domain (5);	0.882556	0.09420	N	0.804590	D	0.87609	0.6220	N	0.12961	0.28	0.09310	N	1	P	0.40360	0.714	B	0.43990	0.438	T	0.80346	-0.1421	10	0.46703	T	0.11	.	1.1332	0.01749	0.164:0.2048:0.345:0.2862	.	257	Q96JQ2	CLMN_HUMAN	V	257	ENSP00000298912:A257V	ENSP00000298912:A257V	A	-	2	0	CLMN	94746808	0.002000	0.14202	0.326000	0.25389	0.939000	0.58152	1.000000	0.29770	0.430000	0.26230	-0.175000	0.13238	GCC		0.483	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
RYR3	6263	broad.mit.edu	37	15	33895522	33895522	+	Silent	SNP	C	C	T	rs369220734		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:33895522C>T	ENST00000389232.4	+	18	2191	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	RYR3_ENST00000415757.3_Silent_p.D707D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	707	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D707D(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGTTGGTGACGACCTGTACT	0.537																																						uc001zhi.3																			1	Substitution - coding silent(1)	p.D707D(2)	central_nervous_system(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(2119-2121)gaC>gaT		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.		T		0,4274		0,0,2137	244.0	255.0	251.0		2121	0.6	0.9	15		251	1,8481		0,1,4240	no	coding-synonymous	RYR3	NM_001036.3		0,1,6377	TT,TC,CC		0.0118,0.0,0.0078		707/4871	33895522	1,12755	2137	4241	6378	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895522C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2121C>T	15.37:g.33895522C>T						RYR3_uc010bar.3_Silent_p.D707D	p.D707D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	17	2191	+		all_lung(180;7.18e-09)	707			B30.2/SPRY 1.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.2121C>T	CCDS45210.1																																																																																				0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
PLCB2	5330	broad.mit.edu	37	15	40583828	40583828	+	Missense_Mutation	SNP	C	C	T	rs373846576		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:40583828C>T	ENST00000260402.3	-	25	2875	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	PLCB2_ENST00000557821.1_Missense_Mutation_p.E872K|PLCB2_ENST00000456256.2_Intron	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	876					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCATAGCCTCTTCCCTGGCC	0.706																																						uc001zld.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2626-2628)Gag>Aag		Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.							24.0	29.0	27.0					15																	40583828		1884	4101	5985	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40583828C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2626G>A	15.37:g.40583828C>T	ENSP00000260402:p.Glu876Lys					PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.E872K|PLCB2_uc010ucm.2_Intron	p.E876K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	24	2927	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	876					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2626G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960061	0.53400	.	.	ENSG00000137841	ENST00000260402	T	0.23348	1.91	3.84	3.84	0.44239	.	2.236000	0.01973	N	0.044227	T	0.29914	0.0748	L	0.43923	1.385	0.80722	D	1	B;B	0.23249	0.082;0.001	B;B	0.25291	0.059;0.006	T	0.16837	-1.0389	10	0.56958	D	0.05	.	11.4391	0.50086	0.0:1.0:0.0:0.0	.	872;876	Q00722-2;Q00722	.;PLCB2_HUMAN	K	876	ENSP00000260402:E876K	ENSP00000260402:E876K	E	-	1	0	PLCB2	38371120	0.091000	0.21658	0.226000	0.23910	0.143000	0.21401	2.564000	0.45931	2.140000	0.66376	0.491000	0.48974	GAG		0.706	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
RBFOX1	54715	broad.mit.edu	37	16	7726795	7726795	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:7726795G>A	ENST00000550418.1	+	14	1938	c.950G>A	c.(949-951)cGc>cAc	p.R317H	RBFOX1_ENST00000547372.1_Missense_Mutation_p.R360H|RBFOX1_ENST00000535565.2_Missense_Mutation_p.R274H|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R317H|RBFOX1_ENST00000340209.4_Missense_Mutation_p.R322H|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R290H|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R338H|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R334H|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R338H|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R360H|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R338H	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	317					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCTGCATACCGCTACGCCCAG	0.517																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(949-951)cGc>cAc		Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.							199.0	137.0	158.0					16																	7726795		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7726795G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.950G>A	16.37:g.7726795G>A	ENSP00000450031:p.Arg317His					RBFOX1_uc002cyt.2_Missense_Mutation_p.R290H|RBFOX1_uc010uxz.1_Missense_Mutation_p.R360H|RBFOX1_uc010uya.1_Missense_Mutation_p.R274H|RBFOX1_uc010uyb.1_Missense_Mutation_p.R317H|RBFOX1_uc002cyw.2_Missense_Mutation_p.R338H|RBFOX1_uc002cyy.2_Missense_Mutation_p.R338H|RBFOX1_uc002cyx.2_Missense_Mutation_p.R338H|RBFOX1_uc010uyc.1_Missense_Mutation_p.R311H	p.R317H	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN			13	1938	+			317					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.950G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817076	0.90790	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.41;1.17;1.41;1.11;1.24;1.42;1.3;1.11	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.68952	2.095	0.53005	D	0.999969	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.984;1.0;0.997;0.994;0.984;0.979;0.997	T	0.55003	-0.8208	10	0.20046	T	0.44	-9.973	19.2201	0.93793	0.0:0.0:1.0:0.0	.	311;274;360;338;338;338;290;317	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1	.;.;.;.;.;.;.;RFOX1_HUMAN	H	317;290;360;360;274;334;317;338;338;338;311;322	ENSP00000450031:R317H;ENSP00000447753:R290H;ENSP00000446842:R360H;ENSP00000391269:R360H;ENSP00000447717:R317H;ENSP00000402745:R338H;ENSP00000309117:R338H;ENSP00000347855:R338H;ENSP00000344196:R322H	ENSP00000309117:R338H	R	+	2	0	RBFOX1	7666796	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.331000	0.79192	2.702000	0.92279	0.650000	0.86243	CGC		0.517	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
ACSM3	6296	broad.mit.edu	37	16	20787173	20787173	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:20787173C>A	ENST00000289416.5	+	3	707	c.232C>A	c.(232-234)Cct>Act	p.P78T	ACSM3_ENST00000440284.2_Missense_Mutation_p.P78T|ACSM3_ENST00000450120.2_Missense_Mutation_p.P33T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	78					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGAAAGAAACCTTCAAATCC	0.403																																						uc010vba.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(208-210)Cct>Act		Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.							107.0	118.0	114.0					16																	20787173		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20787173C>A	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.232C>A	16.37:g.20787173C>A	ENSP00000289416:p.Pro78Thr					ACSM3_uc002dhq.3_Missense_Mutation_p.P78T|ACSM3_uc002dhr.3_Missense_Mutation_p.P78T	p.P70T	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			1	283	+			78					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.208C>A	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564588	0.45694	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.60672	0.17;0.17;0.17	6.08	5.14	0.70334	.	0.257949	0.40144	N	0.001166	T	0.58581	0.2132	L	0.56769	1.78	0.23869	N	0.996614	B;B;B	0.27971	0.196;0.037;0.18	B;B;B	0.40256	0.089;0.049;0.324	T	0.58375	-0.7647	10	0.62326	D	0.03	-0.2175	7.7707	0.29006	0.1331:0.7324:0.0:0.1345	.	33;78;78	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	T	78;78;33	ENSP00000289416:P78T;ENSP00000394565:P78T;ENSP00000395297:P33T	ENSP00000289416:P78T	P	+	1	0	ACSM3	20694674	0.006000	0.16342	0.959000	0.39883	0.991000	0.79684	-0.030000	0.12308	1.594000	0.50039	-0.218000	0.12543	CCT		0.403	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	
ITGAM	3684	broad.mit.edu	37	16	31338227	31338227	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:31338227C>A	ENST00000287497.8	+	22	2754	c.2679C>A	c.(2677-2679)aaC>aaA	p.N893K	ITGAM_ENST00000544665.3_Missense_Mutation_p.N894K			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	893					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCTTGGAAACAAACTGCTCC	0.512																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(2680-2682)aaC>aaA		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							190.0	180.0	184.0					16																	31338227		1944	4146	6090	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31338227C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2679C>A	16.37:g.31338227C>A	ENSP00000287497:p.Asn893Lys					ITGAM_uc002ebq.3_Missense_Mutation_p.N893K|ITGAM_uc010can.3_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K	p.N894K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			21	2780	+			893					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2682C>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804125	0.70682	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.44482	0.92;0.92	5.5	-3.07	0.05363	Integrin alpha-2 (1);	.	.	.	.	T	0.37919	0.1021	M	0.66506	2.035	0.09310	N	0.999998	B;B;B	0.31790	0.205;0.34;0.34	B;B;B	0.39152	0.292;0.156;0.156	T	0.47661	-0.9100	9	0.62326	D	0.03	.	1.2374	0.01955	0.2222:0.365:0.2165:0.1963	.	299;893;893	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	K	894;893	ENSP00000441691:N894K;ENSP00000287497:N893K	ENSP00000287497:N893K	N	+	3	2	ITGAM	31245728	0.045000	0.20229	0.003000	0.11579	0.990000	0.78478	0.063000	0.14410	-0.903000	0.03881	0.446000	0.29264	AAC		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
RRAD	6236	broad.mit.edu	37	16	66957764	66957764	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:66957764G>A	ENST00000299759.6	-	3	679	c.429C>T	c.(427-429)taC>taT	p.Y143Y	RRAD_ENST00000420652.1_Silent_p.Y143Y			P55042	RAD_HUMAN	Ras-related associated with diabetes	143					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCAAATGTCGTAGACCATGA	0.582																																						uc002eqn.2																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(427-429)taC>taT		Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.							235.0	223.0	227.0					16																	66957764		2200	4300	6500	SO:0001819	synonymous_variant	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66957764G>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.429C>T	16.37:g.66957764G>A						RRAD_uc002eqo.2_Silent_p.Y143Y	p.Y143Y	NM_001128850	NP_004156	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	2	581	-		Ovarian(137;0.192)	143					Q96F39	Silent	SNP	ENST00000299759.6	37	c.429C>T	CCDS10824.1																																																																																				0.582	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165	
CHST5	23563	broad.mit.edu	37	16	75564091	75564091	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:75564091G>A	ENST00000336257.3	-	3	1586	c.192C>T	c.(190-192)caC>caT	p.H64H	CHST5_ENST00000541075.1_Silent_p.H70H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	64					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACCAGCACGTGCACACGAT	0.657																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(208-210)caC>caT		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							40.0	35.0	37.0					16																	75564091		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564091G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.192C>T	16.37:g.75564091G>A						CHST5_uc002fei.3_Silent_p.H64H|CHST5_uc021tlk.1_Silent_p.H64H	p.H70H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	531	-			64					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.210C>T	CCDS10919.1																																																																																				0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126	
KIF2B	84643	broad.mit.edu	37	17	51900728	51900728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:51900728G>A	ENST00000268919.4	+	1	490	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	112			A -> V (in dbSNP:rs3803824). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGCGTACCGCCACGAAATG	0.602																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(334-336)Gcc>Acc		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							78.0	83.0	81.0					17																	51900728		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900728G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.334G>A	17.37:g.51900728G>A	ENSP00000268919:p.Ala112Thr					KIF2B_uc010wna.1_Non-coding_Transcript	p.A112T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	490	+			112		A -> V (in dbSNP:rs3803824).			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.334G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432467	0.04669	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75154	-0.91	4.99	-0.787	0.10943	.	0.344162	0.20835	N	0.084805	T	0.45736	0.1357	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.20273	-1.0280	10	0.12103	T	0.63	.	4.4214	0.11482	0.2273:0.0:0.5024:0.2703	.	112	Q8N4N8	KIF2B_HUMAN	T	112;35	ENSP00000268919:A112T	ENSP00000268919:A112T	A	+	1	0	KIF2B	49255727	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.319000	0.08039	0.091000	0.17302	-0.137000	0.14449	GCC		0.602	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
UTS2R	2837	broad.mit.edu	37	17	80332605	80332605	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:80332605C>T	ENST00000313135.2	+	1	453	c.405C>T	c.(403-405)caC>caT	p.H135H		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	135					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGACCATGCACGCCAGCATCT	0.662																																						uc010wvl.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(403-405)caC>caT		Homo sapiens urotensin 2 receptor (UTS2R), mRNA.							50.0	40.0	43.0					17																	80332605		2203	4300	6503	SO:0001819	synonymous_variant	2837					integral to membrane|plasma membrane		g.chr17:80332605C>T	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.405C>T	17.37:g.80332605C>T							p.H135H	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		0	405	+	Breast(20;0.00106)|all_neural(118;0.0804)		135					B2RMV8	Silent	SNP	ENST00000313135.2	37	c.405C>T	CCDS11810.1																																																																																				0.662	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949	
POTEC	388468	broad.mit.edu	37	18	14537857	14537857	+	Silent	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:14537857A>G	ENST00000358970.5	-	3	752	c.753T>C	c.(751-753)gaT>gaC	p.D251D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	251										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATTAATTTATCTTCATTGT	0.343																																						uc010dln.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(751-753)gaT>gaC		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							321.0	247.0	269.0					18																	14537857		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14537857A>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.753T>C	18.37:g.14537857A>G						POTEC_uc010xaj.2_Non-coding_Transcript	p.D251D	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			2	1207	-			251						Silent	SNP	ENST00000358970.5	37	c.753T>C	CCDS45835.1																																																																																				0.343	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
CDH20	28316	broad.mit.edu	37	18	59158011	59158011	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:59158011C>T	ENST00000262717.4	+	2	623	c.225C>T	c.(223-225)acC>acT	p.T75T	CDH20_ENST00000538374.1_Silent_p.T75T|CDH20_ENST00000536675.2_Silent_p.T75T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACACTGGGACCGACCCTTTGT	0.448																																						uc010dps.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(223-225)acC>acT		Homo sapiens cadherin 20, type 2 (CDH20), mRNA.							125.0	125.0	125.0					18																	59158011		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59158011C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.225C>T	18.37:g.59158011C>T						CDH20_uc002lif.2_Silent_p.T69T	p.T75T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			0	377	+		Colorectal(73;0.186)	75			Cadherin 1.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.225C>T	CCDS11977.1																																																																																				0.448	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
FBXO15	201456	broad.mit.edu	37	18	71790685	71790685	+	Silent	SNP	G	G	A	rs573445550		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:71790685G>A	ENST00000419743.2	-	8	1135	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_ENST00000269500.5_Silent_p.H276H	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	352						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.0					uc002llf.2																			0		p.V352I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1054-1056)caC>caT		Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.							78.0	72.0	74.0					18																	71790685		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71790685G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1056C>T	18.37:g.71790685G>A						FBXO15_uc002lle.2_Silent_p.H276H	p.H352H	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	7	1136	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	276					B3KST3	Silent	SNP	ENST00000419743.2	37	c.1056C>T	CCDS45884.1																																																																																				0.443	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
RFX2	5990	broad.mit.edu	37	19	5997146	5997146	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:5997146G>A	ENST00000303657.5	-	16	2087	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.D646D|RFX2_ENST00000592546.1_Silent_p.D621D	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACATGTACTCGTCGTAGAGCA	0.662																																					Colon(38;171 817 19800 47433 48051)	uc002meb.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1936-1938)gaC>gaT		Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.							85.0	66.0	73.0					19																	5997146		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:5997146G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1938C>T	19.37:g.5997146G>A						RFX2_uc002mec.3_Silent_p.D621D	p.D646D	NM_000635	NP_000626	P48378	RFX2_HUMAN			15	2207	-			646					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.1938C>T	CCDS12157.1																																																																																				0.662	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635	
PRKCSH	5589	broad.mit.edu	37	19	11559740	11559740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11559740G>A	ENST00000589838.1	+	14	1277	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PRKCSH_ENST00000587327.1_Missense_Mutation_p.R423H|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R423H|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R423H|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R426H|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R433H			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	426	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TACGTCTACCGCCTCTGCCCC	0.647																																						uc010xlz.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1297-1299)cGc>cAc		Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.							105.0	110.0	109.0					19																	11559740		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559740G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1277G>A	19.37:g.11559740G>A	ENSP00000465461:p.Arg426His					PRKCSH_uc002mrt.3_Missense_Mutation_p.R426H|PRKCSH_uc002mru.3_Missense_Mutation_p.R423H|PRKCSH_uc010dyb.3_Missense_Mutation_p.R423H	p.R433H	NM_002743	NP_002734	P14314	GLU2B_HUMAN			14	1634	+			426			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1298G>A	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976105	0.53720	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.83250	-1.7;-1.7	5.23	1.86	0.25419	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.118609	0.52532	D	0.000069	D	0.85801	0.5781	L	0.52364	1.645	0.43588	D	0.995933	D;D;D;D	0.89917	1.0;1.0;0.987;1.0	D;D;P;D	0.81914	0.992;0.995;0.65;0.995	T	0.83082	-0.0137	10	0.62326	D	0.03	-31.1233	7.7845	0.29085	0.1527:0.1343:0.713:0.0	.	433;433;423;426	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	H	426;423	ENSP00000252455:R426H;ENSP00000395616:R423H	ENSP00000252455:R426H	R	+	2	0	PRKCSH	11420740	1.000000	0.71417	0.975000	0.42487	0.303000	0.27691	4.684000	0.61686	0.203000	0.20529	-0.176000	0.13171	CGC		0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		
ZNF491	126069	broad.mit.edu	37	19	11917007	11917007	+	Missense_Mutation	SNP	G	G	A	rs375933257		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11917007G>A	ENST00000323169.5	+	3	570	c.239G>A	c.(238-240)cGt>cAt	p.R80H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CATAAACAACGTAGGAAAGCC	0.378																																						uc002mso.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(238-240)cGt>cAt		Homo sapiens zinc finger protein 491 (ZNF491), mRNA.		G	HIS/ARG	0,4404		0,0,2202	49.0	50.0	50.0		239	0.9	0.0	19		50	1,8597		0,1,4298	no	missense	ZNF491	NM_152356.3	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	80/438	11917007	1,13001	2202	4299	6501	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917007G>A	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.239G>A	19.37:g.11917007G>A	ENSP00000313443:p.Arg80His					ZNF491_uc021upj.1_Missense_Mutation_p.R80H	p.R80H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			2	524	+			80					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.239G>A	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	t	7.959	0.746494	0.15710	0.0	1.16E-4	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.27720	1.65;3.39	0.904	0.904	0.19302	.	.	.	.	.	T	0.15522	0.0374	N	0.12182	0.205	0.09310	N	1	B	0.16396	0.017	B	0.01281	0.0	T	0.21280	-1.0250	9	0.87932	D	0	.	5.1324	0.14917	0.0:0.0:1.0:0.0	.	80	Q8N8L2	ZN491_HUMAN	H	80	ENSP00000313443:R80H;ENSP00000392176:R80H	ENSP00000313443:R80H	R	+	2	0	ZNF491	11778007	0.999000	0.42202	0.011000	0.14972	0.012000	0.07955	2.915000	0.48805	0.784000	0.33661	0.505000	0.49811	CGT		0.378	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
HSH2D	84941	broad.mit.edu	37	19	16259656	16259656	+	Silent	SNP	C	C	T	rs77723805		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:16259656C>T	ENST00000253680.6	+	4	627	c.96C>T	c.(94-96)ccC>ccT	p.P32P	HSH2D_ENST00000593154.2_Silent_p.P32P|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000588246.1_Silent_p.P32P			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	32					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACGGGGTCCCCGAGTGGTTCC	0.637																																						uc002ndp.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(94-96)ccC>ccT		Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.		C		0,3908		0,0,1954	52.0	59.0	56.0		96	-2.9	0.0	19	dbSNP_131	56	1,8237		0,1,4118	no	coding-synonymous	HSH2D	NM_032855.2		0,1,6072	TT,TC,CC		0.0121,0.0,0.0082		32/353	16259656	1,12145	1954	4119	6073	SO:0001819	synonymous_variant	84941					cytoplasm|nucleus		g.chr19:16259656C>T	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.96C>T	19.37:g.16259656C>T						HSH2D_uc002ndr.3_5'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	p.P32P	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN			3	627	+			32					B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37	c.96C>T																																																																																					0.637	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855	
LYPD4	147719	broad.mit.edu	37	19	42341249	42341249	+	Missense_Mutation	SNP	C	C	T	rs375302712		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:42341249C>T	ENST00000330743.3	-	5	1920	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	LYPD4_ENST00000601246.1_Missense_Mutation_p.V202I|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Missense_Mutation_p.V202I	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	237						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGGCCTAAGACGACACCCCAA	0.483																																						uc002orp.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(709-711)Gtc>Atc		Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.		C	ILE/VAL	0,4406		0,0,2203	126.0	116.0	119.0		709	-0.4	0.0	19		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYPD4	NM_173506.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	237/247	42341249	1,13005	2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42341249C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.709G>A	19.37:g.42341249C>T	ENSP00000328737:p.Val237Ile					LYPD4_uc002orq.1_Missense_Mutation_p.V202I	p.V237I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN			4	1693	-			237					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.709G>A	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	c	5.965	0.362093	0.11296	0.0	1.16E-4	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.11604	3.42;2.76	4.28	-0.379	0.12493	.	0.526354	0.16112	N	0.229032	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34204	-0.9838	10	0.45353	T	0.12	-5.8436	1.4101	0.02289	0.1927:0.17:0.463:0.1743	.	202;237	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	I	237;202	ENSP00000328737:V237I;ENSP00000339568:V202I	ENSP00000328737:V237I	V	-	1	0	LYPD4	47033089	0.671000	0.27521	0.018000	0.16275	0.031000	0.12232	0.559000	0.23485	0.060000	0.16281	-0.946000	0.02672	GTC		0.483	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506	
PSG7	5676	broad.mit.edu	37	19	43430081	43430081	+	RNA	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:43430081G>C	ENST00000406070.2	-	0	1183				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CAAGAATACTGTGCCGGTGGG	0.458																																						uc002ovl.4																			0											c.(1084-1086)Cag>Gag		Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.							168.0	178.0	174.0					19																	43430081		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430081G>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430081G>C						PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.Q241E	p.Q362E	NM_002783	NP_002774	Q13046	PSG7_HUMAN			5	1186	-		Prostate(69;0.00682)	363			Ig-like C2-type 3.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.1084C>G																																																																																					0.458	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
LILRB1	10859	broad.mit.edu	37	19	55143564	55143564	+	Silent	SNP	C	C	T	rs532278161		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:55143564C>T	ENST00000396331.1	+	6	894	c.537C>T	c.(535-537)cgC>cgT	p.R179R	LILRB1_ENST00000396327.3_Silent_p.R179R|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000434867.2_Silent_p.R179R|LILRB1_ENST00000324602.7_Silent_p.R179R|LILRB1_ENST00000418536.2_Silent_p.R179R|LILRB1_ENST00000396317.1_Silent_p.R179R|LILRB1_ENST00000396321.2_Silent_p.R179R|LILRB1_ENST00000448689.1_Silent_p.R179R|LILRB1_ENST00000396315.1_Silent_p.R179R|LILRB1_ENST00000396332.4_Silent_p.R179R|LILRB1_ENST00000427581.2_Silent_p.R215R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	179	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTCGTCCCGCGCCATCTTCT	0.577										HNSCC(37;0.09)																												uc002qgj.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(535-537)cgC>cgT		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							129.0	126.0	127.0					19																	55143564		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143564C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.537C>T	19.37:g.55143564C>T		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.R179R|LILRB1_uc002qgk.3_Silent_p.R179R|LILRB1_uc002qgm.3_Silent_p.R179R|LILRB1_uc010erq.3_Silent_p.R179R|LILRB1_uc010err.3_Non-coding_Transcript	p.R179R	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	877	+			179			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.537C>T	CCDS42617.1																																																																																				0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
ABCG8	64241	broad.mit.edu	37	2	44078770	44078770	+	Missense_Mutation	SNP	G	G	A	rs143276716		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:44078770G>A	ENST00000272286.2	+	4	460	c.370G>A	c.(370-372)Ggc>Agc	p.G124S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	124	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCGAGGTCACGGCGGCAAGAT	0.617																																						uc002rtq.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(370-372)Ggc>Agc		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.		G	SER/GLY	0,4406		0,0,2203	74.0	61.0	66.0		370	4.0	0.3	2	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCG8	NM_022437.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	124/674	44078770	2,13004	2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078770G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.370G>A	2.37:g.44078770G>A	ENSP00000272286:p.Gly124Ser					ABCG8_uc010yoa.2_Missense_Mutation_p.G124S	p.G124S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			3	460	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	124			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.370G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146907	0.77888	0.0	2.33E-4	ENSG00000143921	ENST00000272286	D	0.93547	-3.24	4.92	4.03	0.46877	ABC transporter-like (2);	0.051672	0.85682	D	0.000000	D	0.88930	0.6571	N	0.01809	-0.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.97;0.982	D	0.86589	0.1859	10	0.16420	T	0.52	.	13.4791	0.61326	0.0769:0.0:0.9231:0.0	.	124;124	Q9H221-2;Q9H221	.;ABCG8_HUMAN	S	124	ENSP00000272286:G124S	ENSP00000272286:G124S	G	+	1	0	ABCG8	43932274	1.000000	0.71417	0.264000	0.24511	0.688000	0.40055	7.298000	0.78815	2.283000	0.76528	0.655000	0.94253	GGC		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						uc010ywi.1																			6	Substitution - Missense(6)	p.N756D(9)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp						p.N756D	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			15	2323	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	
CFC1	55997	broad.mit.edu	37	2	131356244	131356244	+	Missense_Mutation	SNP	G	G	A	rs139623987	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:131356244G>A	ENST00000259216.4	-	3	480	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	73					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GTAGGGGAGCGGCTCCTCCGG	0.622													G|||	2	0.000399361	0.0	0.0014	5008	,	,		22906	0.0		0.001	False		,,,				2504	0.0					uc002tro.1																			0											c.(217-219)cCg>cTg		Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.		G	LEU/PRO	1,4391		0,1,2195	43.0	61.0	55.0		218	-0.2	0.0	2	dbSNP_134	55	0,8598		0,0,4299	no	missense	CFC1	NM_032545.2	98	0,1,6494	AA,AG,GG		0.0,0.0228,0.0077	benign	73/224	131356244	1,12989	2196	4299	6495	SO:0001583	missense	653275				gastrulation	extracellular region		g.chr2:131356244G>A	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"""heterotaxy 2 (autosomal dominant)"""	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.218C>T	2.37:g.131356244G>A	ENSP00000259216:p.Pro73Leu						p.P73L	NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN			2	609	-	Colorectal(110;0.1)		73					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000259216.4	37	c.218C>T	CCDS2162.1	.	.	.	.	.	.	.	.	.	.	.	0.178	-1.064867	0.01934	2.28E-4	0.0	ENSG00000136698	ENST00000259216	D	0.88431	-2.38	1.72	-0.21	0.13176	.	1.184560	0.06096	N	0.664543	T	0.74038	0.3664	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.59064	-0.7524	10	0.19590	T	0.45	-38.4432	4.0804	0.09924	0.4168:0.0:0.5832:0.0	.	73	P0CG37	CFC1_HUMAN	L	73	ENSP00000259216:P73L	ENSP00000259216:P73L	P	-	2	0	CFC1	131072714	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.050000	0.14120	-0.071000	0.12886	0.436000	0.28706	CCG		0.622	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545	
TTN	7273	broad.mit.edu	37	2	179497473	179497473	+	Silent	SNP	G	G	A	rs372382546	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:179497473G>A	ENST00000591111.1	-	185	38561	c.38337C>T	c.(38335-38337)ttC>ttT	p.F12779F	TTN_ENST00000342992.6_Silent_p.F11852F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.F5480F|TTN_ENST00000460472.2_Silent_p.F5355F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.F14420F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.F5547F			Q8WZ42	TITIN_HUMAN	titin	12779	Ig-like 85.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTCTCGAAGACTTTAA	0.428													G|||	5	0.000998403	0.0015	0.0	5008	,	,		21497	0.003		0.0	False		,,,				2504	0.0					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35554-35556)ttC>ttT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	2,3808		0,2,1903	133.0	130.0	131.0		16065,35556,16440,16641	-1.0	1.0	2		131	0,8260		0,0,4130	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6033	AA,AG,GG		0.0,0.0525,0.0166	,,,	5355/26927,11852/33424,5480/27052,5547/27119	179497473	2,12068	1905	4130	6035	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497473G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38337C>T	2.37:g.179497473G>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5547F|TTN_uc021vta.1_Silent_p.F5480F|TTN_uc021vtb.1_Silent_p.F5355F	p.F11852F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		183	35781	-			12779			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.35556C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITGA4	3676	broad.mit.edu	37	2	182358131	182358131	+	Silent	SNP	G	G	A	rs368002151		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:182358131G>A	ENST00000397033.2	+	11	1663	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	411					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGGGATCTCGTCAACCTTCT	0.368																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1231-1233)tcG>tcA		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)	G		0,3752		0,0,1876	105.0	99.0	101.0		1233	-11.7	0.0	2		101	1,8197		0,1,4098	no	coding-synonymous	ITGA4	NM_000885.4		0,1,5974	AA,AG,GG		0.0122,0.0,0.0084		411/1033	182358131	1,11949	1876	4099	5975	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182358131G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1233G>A	2.37:g.182358131G>A							p.S411S	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1996	+			411					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1233G>A	CCDS42788.1																																																																																				0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
SERPINE2	5270	broad.mit.edu	37	2	224866465	224866465	+	Silent	SNP	G	G	A	rs3795875		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:224866465G>A	ENST00000258405.4	-	2	395	c.153C>T	c.(151-153)atC>atT	p.I51I	SERPINE2_ENST00000409304.1_Silent_p.I51I|SERPINE2_ENST00000447280.2_Silent_p.I63I|SERPINE2_ENST00000409840.3_Silent_p.I51I	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	51			I -> M (in dbSNP:rs3795875).		blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGATCACGATGTTGTCAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		16824	0.0		0.001	False		,,,				2504	0.0					uc010zlr.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(187-189)atC>atT		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.							119.0	112.0	114.0					2																	224866465		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866465G>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.153C>T	2.37:g.224866465G>A						SERPINE2_uc002vnu.2_Silent_p.I51I|SERPINE2_uc002vnv.2_Silent_p.I51I	p.I63I	NM_001136530	NP_001130000	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	1	326	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	51					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.189C>T	CCDS2460.1																																																																																				0.567	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216	
B3GNT7	93010	broad.mit.edu	37	2	232262645	232262645	+	Missense_Mutation	SNP	C	C	T	rs199641918	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:232262645C>T	ENST00000287590.5	+	2	476	c.215C>T	c.(214-216)aCg>aTg	p.T72M	B3GNT7_ENST00000479618.1_3'UTR|AC017104.6_ENST00000415129.1_RNA	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	72					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGCGCCCACGCCCATGGCC	0.617													c|||	5	0.000998403	0.0	0.0	5008	,	,		15556	0.0		0.002	False		,,,				2504	0.0031					uc002vrs.3																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(214-216)aCg>aTg		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.		T	MET/THR	0,3858		0,0,1929	37.0	43.0	41.0		215	-1.4	0.0	2		41	3,8249		0,3,4123	yes	missense	B3GNT7	NM_145236.2	81	0,3,6052	TT,TC,CC		0.0364,0.0,0.0248	benign	72/402	232262645	3,12107	1929	4126	6055	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262645C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.215C>T	2.37:g.232262645C>T	ENSP00000287590:p.Thr72Met						p.T72M	NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	1	395	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	72					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.215C>T	CCDS46540.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	5.114	0.206662	0.09704	0.0	3.64E-4	ENSG00000156966	ENST00000287590	T	0.35973	1.28	5.5	-1.36	0.09085	.	0.398089	0.19662	U	0.108960	T	0.23649	0.0572	L	0.54323	1.7	0.09310	N	1	P	0.48350	0.909	B	0.39027	0.288	T	0.17623	-1.0363	10	0.52906	T	0.07	.	2.5458	0.04736	0.1008:0.2667:0.3505:0.282	.	72	Q8NFL0	B3GN7_HUMAN	M	72	ENSP00000287590:T72M	ENSP00000287590:T72M	T	+	2	0	B3GNT7	231970889	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.599000	0.05700	0.030000	0.15379	-0.735000	0.03563	ACG		0.617	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236	
SLC52A3	113278	broad.mit.edu	37	20	744504	744504	+	Silent	SNP	C	C	T	rs183391382	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:744504C>T	ENST00000217254.7	-	3	952	c.711G>A	c.(709-711)gcG>gcA	p.A237A	SLC52A3_ENST00000381944.3_Silent_p.A237A|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	237					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGACAAAGAACGCCACGAGGC	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20023	0.0		0.001	False		,,,				2504	0.0					uc002wed.4																			0											c.(709-711)gcG>gcA		Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.							79.0	72.0	74.0					20																	744504		2203	4300	6503	SO:0001819	synonymous_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744504C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.711G>A	20.37:g.744504C>T						SLC52A3_uc002wee.2_Silent_p.A237A	p.A237A	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	1050	-			237					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	c.711G>A	CCDS13007.1																																																																																				0.617	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409	
CNBD2	140894	broad.mit.edu	37	20	34571988	34571988	+	Silent	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:34571988C>A	ENST00000373973.3	+	5	665	c.492C>A	c.(490-492)acC>acA	p.T164T	CNBD2_ENST00000538900.1_Silent_p.T164T|CNBD2_ENST00000349339.1_Silent_p.T164T			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	164																	TTGCAATAACCAAGGACGAGG	0.532																																						uc002xer.1																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18						c.(490-492)acC>acA		Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.							136.0	110.0	119.0					20																	34571988		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34571988C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.492C>A	20.37:g.34571988C>A						C20orf152_uc002xes.1_Silent_p.T164T|C20orf152_uc010gfp.1_Intron	p.T164T	NM_080834	NP_543024	Q96M20	CT152_HUMAN			4	648	+	Breast(12;0.00631)		164					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.492C>A																																																																																					0.532	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	
KCNG1	3755	broad.mit.edu	37	20	49620775	49620775	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:49620775C>T	ENST00000371571.4	-	3	1628	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	448					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.G448D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAGCAGGATGCCGCTCAGGAT	0.622																																						uc002xwa.4																			1	Substitution - Missense(1)	p.G448D(2)	kidney(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1342-1344)gGc>gAc		Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.							101.0	88.0	93.0					20																	49620775		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620775C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1343G>A	20.37:g.49620775C>T	ENSP00000360626:p.Gly448Asp						p.G448D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	1638	-			448					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1343G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347998	0.82132	.	.	ENSG00000026559	ENST00000371571	D	0.98996	-5.31	5.46	4.51	0.55191	Ion transport (1);	0.045487	0.85682	N	0.000000	D	0.99609	0.9858	H	0.99130	4.44	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97492	1.0054	9	.	.	.	.	13.9943	0.64386	0.0:0.9266:0.0:0.0734	.	448	Q9UIX4	KCNG1_HUMAN	D	448	ENSP00000360626:G448D	.	G	-	2	0	KCNG1	49054182	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	1.305000	0.44909	0.456000	0.33151	GGC		0.622	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
LAMA5	3911	broad.mit.edu	37	20	60887326	60887326	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:60887326G>A	ENST00000252999.3	-	69	9473	c.9407C>T	c.(9406-9408)gCg>gTg	p.A3136V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3136	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTTCGAGAGCGCCAGGCGAAG	0.682																																						uc002ycq.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9406-9408)gCg>gTg		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						35.0	37.0	36.0					20																	60887326		2191	4290	6481	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887326G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9407C>T	20.37:g.60887326G>A	ENSP00000252999:p.Ala3136Val					LAMA5_uc021wfw.1_Missense_Mutation_p.A3136V	p.A3136V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		68	9474	-	Breast(26;1.57e-08)		3136			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9407C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	14.38	2.517032	0.44763	.	.	ENSG00000130702	ENST00000252999	T	0.44083	0.93	4.06	-4.78	0.03209	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.550849	0.19744	N	0.107052	T	0.21674	0.0522	L	0.44542	1.39	0.26559	N	0.973761	P	0.39404	0.672	B	0.30943	0.122	T	0.12502	-1.0545	10	0.33940	T	0.23	.	5.4851	0.16745	0.0705:0.1037:0.3171:0.5087	.	3136	O15230	LAMA5_HUMAN	V	3136	ENSP00000252999:A3136V	ENSP00000252999:A3136V	A	-	2	0	LAMA5	60320721	0.002000	0.14202	0.002000	0.10522	0.004000	0.04260	0.945000	0.29056	-0.988000	0.03489	-0.232000	0.12228	GCG		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
LRRC3	81543	broad.mit.edu	37	21	45877207	45877207	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:45877207G>A	ENST00000291592.4	+	2	997	c.680G>A	c.(679-681)cGc>cAc	p.R227H	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	227						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TACTATGTGCGCCACAACCAG	0.662																																						uc021wjs.1																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(679-681)cGc>cAc		Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.							66.0	69.0	68.0					21																	45877207		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45877207G>A	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.680G>A	21.37:g.45877207G>A	ENSP00000291592:p.Arg227His					LRRC3_uc002zfa.3_Missense_Mutation_p.R227H	p.R227H	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	0	680	+		Breast(209;0.00908)	227					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.680G>A	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645584	0.87859	.	.	ENSG00000160233	ENST00000291592	T	0.63255	-0.03	4.87	4.87	0.63330	.	0.062472	0.56097	D	0.000022	T	0.78648	0.4316	M	0.71581	2.175	0.53688	D	0.999977	D	0.89917	1.0	D	0.78314	0.991	T	0.80647	-0.1289	10	0.59425	D	0.04	-48.6732	18.0286	0.89276	0.0:0.0:1.0:0.0	.	227	Q9BY71	LRRC3_HUMAN	H	227	ENSP00000291592:R227H	ENSP00000291592:R227H	R	+	2	0	LRRC3	44701635	0.997000	0.39634	0.991000	0.47740	0.939000	0.58152	4.591000	0.61019	2.430000	0.82344	0.491000	0.48974	CGC		0.662	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3		
KRTAP10-10	353333	broad.mit.edu	37	21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	rs147625145	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:46057875G>A	ENST00000380095.1	+	1	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642																																						uc002zfq.3																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(541-543)Gcc>Acc		Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.		A	,THR/ALA	0,4406		0,0,2203	156.0	150.0	152.0		,541	-6.5	0.0	21	dbSNP_134	152	6,8594	818.9+/-406.8	0,6,4294	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,58	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	,benign	,181/252	46057875	6,13000	2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057875G>A	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.541G>A	21.37:g.46057875G>A	ENSP00000369438:p.Ala181Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A181T	NM_181688	NP_859016	P60014	KR10A_HUMAN			0	603	+			181			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.541G>A	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.249703	0.00268	0.0	6.98E-4	ENSG00000221859	ENST00000380095	T	0.01279	5.06	3.27	-6.54	0.01860	.	.	.	.	.	T	0.00356	0.0011	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.11182	T	0.66	.	1.7812	0.03032	0.1131:0.2822:0.2124:0.3923	.	181	P60014	KR10A_HUMAN	T	181	ENSP00000369438:A181T	ENSP00000369438:A181T	A	+	1	0	KRTAP10-10	44882303	0.001000	0.12720	0.000000	0.03702	0.159000	0.22180	-0.707000	0.05041	-1.744000	0.01338	-1.907000	0.00523	GCC		0.642	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688	
SGSM1	129049	broad.mit.edu	37	22	25263061	25263061	+	Splice_Site	SNP	G	G	A	rs375323027		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:25263061G>A	ENST00000400359.4	+	10	935	c.928G>A	c.(928-930)Gtc>Atc	p.V310I	SGSM1_ENST00000400358.4_Splice_Site_p.V310I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	310	Required for interaction with RAP family members.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCTTCCAGCGTCTACTGGGA	0.617																																						uc003abg.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.e10-1		Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4152		0,0,2076	39.0	43.0	42.0		928,928,928,928	3.2	1.0	22		42	1,8449		0,1,4224	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	29,29,29,29	0,1,6300	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging	310/1149,310/1094,310/1033,310/1088	25263061	1,12601	2076	4225	6301	SO:0001630	splice_region_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25263061G>A	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.927-1G>A	22.37:g.25263061G>A						SGSM1_uc010guu.1_Splice_Site_p.S309_splice|SGSM1_uc003abh.2_Splice_Site_p.S309_splice|SGSM1_uc003abj.2_Splice_Site_p.S309_splice|SGSM1_uc003abi.1_Splice_Site_p.S284_splice	p.S309_splice	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			10	1084	+			309			Required for interaction with RAP family members.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.927_splice	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999133	0.54147	0.0	1.18E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.31769	1.48;1.48	4.19	3.17	0.36434	.	0.301547	0.35772	N	0.002981	T	0.31295	0.0792	N	0.25485	0.75	0.80722	D	1	D;D;P;D	0.67145	0.996;0.963;0.865;0.984	P;B;P;P	0.56514	0.8;0.435;0.488;0.557	T	0.01998	-1.1232	10	0.21540	T	0.41	-5.2056	11.3382	0.49516	0.0896:0.0:0.9104:0.0	.	310;426;443;310	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	I	426;310;310	ENSP00000383211:V310I;ENSP00000383212:V310I	ENSP00000383211:V310I	V	+	1	0	SGSM1	23593061	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.453000	0.80700	0.913000	0.36797	0.555000	0.69702	GTC		0.617	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	Missense_Mutation
SYN3	8224	broad.mit.edu	37	22	32924868	32924868	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:32924868C>T	ENST00000358763.2	-	11	1465	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	SYN3_ENST00000332840.5_Missense_Mutation_p.R408K	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	408	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TACCCAAGGTCTGAGGGGGGA	0.572											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003amx.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1222-1224)aGa>aAa		Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.							52.0	44.0	47.0					22																	32924868		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32924868C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1223G>A	22.37:g.32924868C>T	ENSP00000351614:p.Arg408Lys		OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836	SYN3_uc003amy.3_Missense_Mutation_p.R408K|SYN3_uc003amz.3_Missense_Mutation_p.R407K|SYN3_uc011amc.1_Missense_Mutation_p.R42K	p.R408K	NM_003490	NP_003481	O14994	SYN3_HUMAN			9	1385	-			408			J; Pro-rich linker.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1223G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592763	0.28357	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154;ENST00000390686	T;T	0.32023	1.47;1.47	5.15	2.98	0.34508	.	0.529857	0.21356	N	0.075883	T	0.23532	0.0569	L	0.41236	1.265	0.33754	D	0.620972	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.23013	-1.0200	10	0.34782	T	0.22	-6.2114	10.1366	0.42710	0.0:0.8187:0.0:0.1813	.	407;408;408	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	K	408;408;42;408	ENSP00000351614:R408K;ENSP00000330219:R408K	ENSP00000330219:R408K	R	-	2	0	SYN3	31254868	0.959000	0.32827	0.991000	0.47740	0.381000	0.30169	2.044000	0.41241	1.409000	0.46915	0.563000	0.77884	AGA		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4		
CELSR1	9620	broad.mit.edu	37	22	46860064	46860064	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:46860064G>A	ENST00000262738.3	-	2	3722	c.3723C>T	c.(3721-3723)gaC>gaT	p.D1241D	CELSR1_ENST00000395964.1_Silent_p.D1241D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1241					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGACGAAGACGTCGTCCTTGG	0.642																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3721-3723)gaC>gaT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							86.0	79.0	82.0					22																	46860064		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46860064G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3723C>T	22.37:g.46860064G>A							p.D1241D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3723	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1241					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.3723C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722942	0.15439	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.75	0.979	0.19745	.	.	.	.	.	T	0.51856	0.1699	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	.	5.782	0.18312	0.0784:0.1355:0.6464:0.1397	.	.	.	.	M	616	.	.	T	-	2	0	CELSR1	45238728	0.985000	0.35326	1.000000	0.80357	0.797000	0.45037	0.205000	0.17356	0.993000	0.38866	-0.140000	0.14226	ACG		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
SCN5A	6331	broad.mit.edu	37	3	38592883	38592883	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38592883G>A	ENST00000333535.4	-	28	5129	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I	SCN5A_ENST00000423572.2_Silent_p.I1659I|SCN5A_ENST00000414099.2_Silent_p.I1642I|SCN5A_ENST00000425664.1_Silent_p.I1642I|SCN5A_ENST00000455624.2_Silent_p.I1627I|SCN5A_ENST00000443581.1_Silent_p.I1659I|SCN5A_ENST00000450102.2_Silent_p.I1606I|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Silent_p.I1606I|SCN5A_ENST00000413689.1_Silent_p.I1660I|SCN5A_ENST00000449557.2_Silent_p.I1606I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1660			I -> V (in BRGDA1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane). {ECO:0000269|PubMed:17075016}.		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)	p.I1660I(1)		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)	GCAGCAGCCCGATGTTGAAGA	0.567																																						uc021wvo.1																			1	Substitution - coding silent(1)	p.I1660I(2)	large_intestine(1)	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						c.(4978-4980)atC>atT		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	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)						156.0	152.0	153.0					3																	38592883		2203	4300	6503	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.chr3:38592883G>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.4980C>T	3.37:g.38592883G>A						SCN5A_uc021wvk.1_Silent_p.I1627I|SCN5A_uc021wvl.1_Silent_p.I1606I|SCN5A_uc021wvm.1_Silent_p.I1642I|SCN5A_uc021wvn.1_Silent_p.I1659I|SCN5A_uc021wvp.1_Silent_p.I1660I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1472I|SCN5A_uc021wvi.1_Silent_p.I1526I	p.I1660I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	5032	-	Medulloblastoma(35;0.163)		1660		I -> V (in BRS1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4980C>T	CCDS46796.1																																																																																				0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN10A	6336	broad.mit.edu	37	3	38765036	38765036	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38765036G>A	ENST00000449082.2	-	18	3236	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1079					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGCTTGTGTCGTCCACTCCCT	0.597																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3235-3237)gaC>gaT		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						50.0	44.0	46.0					3																	38765036		2201	4299	6500	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38765036G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3237C>T	3.37:g.38765036G>A							p.D1079D	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3237	-			1079					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.3237C>T	CCDS33736.1																																																																																				0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38770224	38770224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38770224G>A	ENST00000449082.2	-	15	2448	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	817					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R817*(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATATTTTTTCGGTTGTTACGG	0.532																																						uc003ciq.3																			1	Substitution - Nonsense(1)	p.R817*(2)	ovary(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2449-2451)Cga>Tga		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						125.0	126.0	126.0					3																	38770224		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770224G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2449C>T	3.37:g.38770224G>A	ENSP00000390600:p.Arg817*						p.R817*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2449	-			817					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.2449C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831187	0.71258	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.75	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	2.468	0.04557	0.1323:0.1878:0.2164:0.4634	.	.	.	.	X	817	.	ENSP00000390600:R817X	R	-	1	2	SCN10A	38745228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.063000	0.11655	-0.311000	0.08754	-0.181000	0.13052	CGA		0.532	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:96706525C>T	ENST00000389672.5	+	3	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C|EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	174						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443																																						uc010how.1																			3	Substitution - Missense(3)	p.R174C(3)	NS(2)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(802-804)Cgt>Tgt		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							209.0	214.0	213.0					3																	96706525		1888	4146	6034	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706525C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.802C>T	3.37:g.96706525C>T	ENSP00000374323:p.Arg268Cys					EPHA6_uc003drp.1_Missense_Mutation_p.R268C	p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			2	845	+			173					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.802C>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973211|3.973211	0.74246|0.74246	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.10668|.	2.85;2.85;2.85|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.64402|.	U|.	0.000014|.	T|T	0.78616|0.78616	0.4311|0.4311	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.79196|0.79196	-0.1903|-0.1903	10|5	0.87932|.	D|.	0|.	.|.	18.3424|18.3424	0.90309|0.90309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	268;268|.	B3KS12;E7EU71|.	.;.|.	C|L	268;268;174|212	ENSP00000420598:R268C;ENSP00000374323:R268C;ENSP00000439758:R174C|.	ENSP00000374323:R268C|.	R|S	+|+	1|2	0|0	EPHA6|EPHA6	98189215|98189215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.950000|5.950000	0.70265|0.70265	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.443	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
TMPRSS7	344805	broad.mit.edu	37	3	111782428	111782428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:111782428C>T	ENST00000452346.2	+	12	1507	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R376C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	502	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAGGCCCAGCGTTGTGATGG	0.383																																						uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1126-1128)Cgt>Tgt		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							269.0	256.0	260.0					3																	111782428		1960	4167	6127	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111782428C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1504C>T	3.37:g.111782428C>T	ENSP00000398236:p.Arg502Cys					TMPRSS7_uc011bhr.1_Missense_Mutation_p.R231C	p.R376C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			9	1296	+			502			CUB 2.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1126C>T		.	.	.	.	.	.	.	.	.	.	C	17.91	3.504433	0.64410	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.95980	-3.87;-3.87	5.79	2.93	0.34026	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.062939	0.64402	D	0.000006	D	0.97757	0.9264	M	0.91140	3.18	0.53688	D	0.999973	D;D	0.89917	1.0;0.999	D;P	0.69307	0.963;0.862	D	0.97259	0.9903	10	0.56958	D	0.05	.	12.8276	0.57728	0.4288:0.5712:0.0:0.0	.	502;376	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	502;490;476;376	ENSP00000398236:R502C;ENSP00000411645:R376C	ENSP00000411645:R376C	R	+	1	0	TMPRSS7	113265118	1.000000	0.71417	0.980000	0.43619	0.866000	0.49608	2.393000	0.44442	0.317000	0.23160	0.563000	0.77884	CGT		0.383	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
POLQ	10721	broad.mit.edu	37	3	121212455	121212455	+	Silent	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:121212455G>T	ENST00000264233.5	-	15	2520	c.2392C>A	c.(2392-2394)Cgg>Agg	p.R798R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	798					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGATACCCGAACCAGGTCA	0.488								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2392-2394)Cgg>Agg	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.							81.0	77.0	78.0					3																	121212455		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121212455G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2392C>A	3.37:g.121212455G>T						POLQ_uc003eed.3_5'Flank	p.R798R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	14	2521	-			798					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.2392C>A	CCDS33833.1																																																																																				0.488	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
AGTR1	185	broad.mit.edu	37	3	148459240	148459240	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:148459240C>T	ENST00000497524.1	+	2	809	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	AGTR1_ENST00000542281.1_Missense_Mutation_p.R140C|AGTR1_ENST00000418473.2_Missense_Mutation_p.R140C|AGTR1_ENST00000404754.2_Missense_Mutation_p.R140C|AGTR1_ENST00000474935.1_Missense_Mutation_p.R140C|AGTR1_ENST00000461609.1_Missense_Mutation_p.R140C|AGTR1_ENST00000349243.3_Missense_Mutation_p.R140C|AGTR1_ENST00000475347.1_Missense_Mutation_p.R140C|AGTR1_ENST00000402260.1_Missense_Mutation_p.R140C	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	140					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.R140C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCGCCTTCGACGCACAATGCT	0.473																																						uc003ewg.3																			1	Substitution - Missense(1)	p.R140C(2)|p.R140H(1)|p.R139*(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(418-420)Cgc>Tgc		Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						124.0	117.0	120.0					3																	148459240		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459240C>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.418C>T	3.37:g.148459240C>T	ENSP00000419422:p.Arg140Cys					AGTR1_uc003ewh.3_Missense_Mutation_p.R140C|AGTR1_uc003ewi.3_Missense_Mutation_p.R140C|AGTR1_uc003ewj.3_Missense_Mutation_p.R140C|AGTR1_uc003ewk.3_Missense_Mutation_p.R140C|AGTR1_uc021xfj.1_Missense_Mutation_p.R140C	p.R140C	NM_031850	NP_114438	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		3	864	+			140					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.418C>T	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611154	0.87258	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81064	-0.1102	10	0.87932	D	0	-12.5606	19.387	0.94560	0.0:1.0:0.0:0.0	.	140	P30556	AGTR1_HUMAN	C	140	ENSP00000419422:R140C;ENSP00000273430:R140C;ENSP00000443186:R140C;ENSP00000398832:R140C;ENSP00000385612:R140C;ENSP00000419783:R140C;ENSP00000418084:R140C;ENSP00000418851:R140C;ENSP00000385641:R140C	ENSP00000273430:R140C	R	+	1	0	AGTR1	149941930	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.572000	0.86782	0.655000	0.94253	CGC		0.473	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1		
RTP2	344892	broad.mit.edu	37	3	187416724	187416724	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:187416724G>A	ENST00000358241.1	-	2	668	c.240C>T	c.(238-240)cgC>cgT	p.R80R		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	80					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCGCTGGGCGCGGTCCAGGA	0.657																																						uc003fro.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(238-240)cgC>cgT		Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.							24.0	24.0	24.0					3																	187416724		2202	4300	6502	SO:0001819	synonymous_variant	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416724G>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.240C>T	3.37:g.187416724G>A							p.R80R	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	669	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		80					Q6NVH4	Silent	SNP	ENST00000358241.1	37	c.240C>T	CCDS33911.1																																																																																				0.657	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312	
TLR6	10333	broad.mit.edu	37	4	38830432	38830432	+	Frame_Shift_Del	DEL	C	C	-	rs146892714		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:38830432delC	ENST00000381950.1	-	1	728	c.663delG	c.(661-663)gggfs	p.G221fs	TLR6_ENST00000436693.2_Frame_Shift_Del_p.G221fs			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	221					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGTAAGCACCCTAAAGTAT	0.323																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(661-663)gggfs		Homo sapiens toll-like receptor 6 (TLR6), mRNA.							48.0	54.0	52.0					4																	38830432		2202	4300	6502	SO:0001589	frameshift_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830432delC		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.663delG	4.37:g.38830432delC	ENSP00000371376:p.Gly221fs					TLR6_uc003gtm.3_Frame_Shift_Del_p.G221fs	p.G221fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	784	-			221					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Frame_Shift_Del	DEL	ENST00000381950.1	37	c.663delG	CCDS3446.1																																																																																				0.323	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
TMEM156	80008	broad.mit.edu	37	4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	rs13118782		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:39000377G>A	ENST00000381938.3	-	2	348	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	81						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368																																						uc003gto.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(241-243)Cgt>Tgt		Homo sapiens transmembrane protein 156 (TMEM156), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	73.0	75.0		241	3.9	1.0	4	dbSNP_121	75	0,8600		0,0,4300	no	missense	TMEM156	NM_024943.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	81/297	39000377	1,13005	2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:39000377G>A	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.241C>T	4.37:g.39000377G>A	ENSP00000371364:p.Arg81Cys					TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN			1	349	-			81					Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.241C>T	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965822	0.18583	2.27E-4	0.0	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.24908	1.83;1.83	4.73	3.87	0.44632	.	0.628966	0.15713	N	0.248325	T	0.13670	0.0331	N	0.08118	0	0.29143	N	0.878895	B	0.26400	0.148	B	0.16722	0.016	T	0.11108	-1.0601	10	0.87932	D	0	-1.3883	10.9337	0.47233	0.0:0.1896:0.8104:0.0	.	81	Q8N614	TM156_HUMAN	C	81	ENSP00000371364:R81C;ENSP00000343758:R81C	ENSP00000343758:R81C	R	-	1	0	TMEM156	38676772	1.000000	0.71417	0.971000	0.41717	0.055000	0.15305	1.721000	0.38032	1.306000	0.44926	0.609000	0.83330	CGT		0.368	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943	
RAI14	26064	broad.mit.edu	37	5	34823835	34823835	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:34823835A>G	ENST00000265109.3	+	15	2175	c.1888A>G	c.(1888-1890)Atg>Gtg	p.M630V	RAI14_ENST00000512629.1_Missense_Mutation_p.M601V|RAI14_ENST00000515799.1_Missense_Mutation_p.M633V|RAI14_ENST00000397449.1_Missense_Mutation_p.M623V|RAI14_ENST00000503673.1_Missense_Mutation_p.M630V|RAI14_ENST00000428746.2_Missense_Mutation_p.M630V|RAI14_ENST00000506376.1_Missense_Mutation_p.M622V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	630						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGCTGAGGACATGAAAGAAGC	0.418																																						uc003jis.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1897-1899)Atg>Gtg		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							71.0	75.0	73.0					5																	34823835		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823835A>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1888A>G	5.37:g.34823835A>G	ENSP00000265109:p.Met630Val					RAI14_uc003jir.3_Missense_Mutation_p.M630V|RAI14_uc010iur.3_Missense_Mutation_p.M601V|RAI14_uc011coj.2_Missense_Mutation_p.M630V|RAI14_uc003jit.3_Missense_Mutation_p.M630V|RAI14_uc011cok.2_Missense_Mutation_p.M622V	p.M633V	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN			16	2436	+	all_lung(31;0.000191)		630					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1897A>G	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719359	0.48728	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37058	1.27;1.22;1.27;1.27;1.26;1.3;1.3	5.68	5.68	0.88126	.	.	.	.	.	T	0.31167	0.0788	L	0.32530	0.975	0.39792	D	0.972454	P;P;P;P	0.48294	0.885;0.817;0.908;0.817	B;B;P;B	0.45195	0.392;0.3;0.473;0.197	T	0.10706	-1.0618	9	0.41790	T	0.15	-24.0936	10.3028	0.43663	0.9267:0.0:0.0733:0.0	.	622;601;633;630	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	V	630;601;630;630;633;622;623	ENSP00000265109:M630V;ENSP00000422377:M601V;ENSP00000388725:M630V;ENSP00000422942:M630V;ENSP00000427123:M633V;ENSP00000423854:M622V;ENSP00000380591:M623V	ENSP00000265109:M630V	M	+	1	0	RAI14	34859592	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.986000	0.49370	2.167000	0.68274	0.454000	0.30748	ATG		0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A	rs199567567		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627																																						uc003jjz.2																			0		p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1405-1407)aCg>aTg		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.		G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	54.0	48.0	50.0		1304,1406	1.9	0.0	5		50	0,8600		0,0,4300	no	missense,missense	UGT3A2	NM_001168316.1,NM_174914.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	435/490,469/524	36035966	2,13004	2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035966G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1406C>T	5.37:g.36035966G>A	ENSP00000282507:p.Thr469Met					UGT3A2_uc011cos.2_Missense_Mutation_p.T435M|UGT3A2_uc011cot.2_Missense_Mutation_p.T167M	p.T469M	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1538	-	all_lung(31;0.000179)		469					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1406C>T	CCDS3914.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.410	0.075871	0.08485	4.54E-4	0.0	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59772	0.24;0.24;0.24	2.74	1.86	0.25419	.	0.469551	0.17381	U	0.176282	T	0.50480	0.1618	L	0.43923	1.385	0.09310	N	1	P;P	0.42908	0.688;0.793	P;B	0.46144	0.505;0.436	T	0.42816	-0.9429	10	0.72032	D	0.01	.	5.1652	0.15082	0.1188:0.0:0.6791:0.2021	.	435;469	E9PFK7;Q3SY77	.;UD3A2_HUMAN	M	469;435;167	ENSP00000282507:T469M;ENSP00000427404:T435M;ENSP00000445367:T167M	ENSP00000282507:T469M	T	-	2	0	UGT3A2	36071723	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.542000	0.23222	0.717000	0.32145	-0.222000	0.12452	ACG		0.627	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
MROH2B	133558	broad.mit.edu	37	5	41067251	41067251	+	Nonsense_Mutation	SNP	G	G	A	rs562368242		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:41067251G>A	ENST00000399564.4	-	3	610	c.160C>T	c.(160-162)Cga>Tga	p.R54*		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	54																	TAAATCAATCGTTGGACAATT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		20502	0.0		0.0	False		,,,				2504	0.001					uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(160-162)Cga>Tga		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							67.0	60.0	62.0					5																	41067251		1876	4085	5961	SO:0001587	stop_gained	133558						binding	g.chr5:41067251G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.160C>T	5.37:g.41067251G>A	ENSP00000382476:p.Arg54*					HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.R54*	p.R54*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			2	650	-			54					Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.160C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	38	7.141545	0.98092	.	.	ENSG00000171495	ENST00000399564	.	.	.	6.17	1.72	0.24424	.	0.827701	0.10419	N	0.676957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6668	0.62401	0.0:0.0:0.2722:0.7278	.	.	.	.	X	54	.	ENSP00000382476:R54X	R	-	1	2	HEATR7B2	41103008	0.063000	0.20901	0.121000	0.21740	0.731000	0.41821	0.385000	0.20685	0.373000	0.24621	0.655000	0.94253	CGA		0.373	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
SLC27A6	28965	broad.mit.edu	37	5	128302221	128302221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:128302221G>A	ENST00000262462.4	+	1	1401	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V131M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V131M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	131					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTGGGCTGCGTGGTGGCCTT	0.592																																						uc003kuy.3																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(391-393)Gtg>Atg		Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.							71.0	52.0	59.0					5																	128302221		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302221G>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.391G>A	5.37:g.128302221G>A	ENSP00000262462:p.Val131Met					SLC27A6_uc003kuz.3_Missense_Mutation_p.V131M	p.V131M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	787	+		all_cancers(142;0.0483)|Prostate(80;0.055)	131					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.391G>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438915	0.63067	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.52295	0.67;0.67;0.67	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.359252	0.29389	N	0.012289	T	0.67011	0.2848	M	0.84846	2.72	0.35754	D	0.819668	D	0.61080	0.989	P	0.60789	0.879	T	0.76503	-0.2935	10	0.48119	T	0.1	-2.983	13.5543	0.61751	0.0:0.1566:0.8434:0.0	.	131	Q9Y2P4	S27A6_HUMAN	M	131	ENSP00000262462:V131M;ENSP00000378684:V131M;ENSP00000421024:V131M	ENSP00000262462:V131M	V	+	1	0	SLC27A6	128330120	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	1.974000	0.40559	2.623000	0.88846	0.561000	0.74099	GTG		0.592	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
ABLIM3	22885	broad.mit.edu	37	5	148637854	148637854	+	Splice_Site	SNP	C	C	T	rs371092037		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:148637854C>T	ENST00000506113.1	+	23	2421	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	ABLIM3_ENST00000309868.7_Splice_Site_p.R647C|ABLIM3_ENST00000504238.1_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Splice_Site_p.R133C|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Splice_Site_p.R552C|ABLIM3_ENST00000508983.1_Splice_Site_p.R614C|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	647	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTCAGCGCCACCTGTC	0.582																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e24-1		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.		C	CYS/ARG	0,4406		0,0,2203	46.0	44.0	44.0		1939	5.9	1.0	5		44	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	ABLIM3	NM_014945.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	647/684	148637854	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148637854C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1939-1C>T	5.37:g.148637854C>T						ABLIM3_uc003lpz.1_Splice_Site_p.R647_splice|ABLIM3_uc003lqa.1_Splice_Site_p.R544_splice|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Splice_Site_p.R614_splice|ABLIM3_uc003lqd.1_Splice_Site_p.R552_splice|ABLIM3_uc003lqe.1_Splice_Site_p.R536_splice|ABLIM3_uc003lqf.3_Intron	p.R647_splice	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		24	2190	+			647			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1939_splice	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759320	0.89932	0.0	1.16E-4	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T	0.59502	0.26;0.33;0.33;0.34;0.62	5.87	5.87	0.94306	Villin headpiece (3);	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.77918	-0.2408	9	.	.	.	.	16.4505	0.83984	0.1317:0.8683:0.0:0.0	.	133;552;647	O94929-4;O94929-3;O94929	.;.;ABLM3_HUMAN	C	552;647;647;614;133;132	ENSP00000315841:R552C;ENSP00000310309:R647C;ENSP00000425394:R647C;ENSP00000420855:R614C;ENSP00000430150:R133C	.	R	+	1	0	ABLIM3	148618047	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.958000	0.56737	2.787000	0.95880	0.549000	0.68633	CGC		0.582	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	Missense_Mutation
DOCK2	1794	broad.mit.edu	37	5	169108785	169108785	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:169108785G>A	ENST00000256935.8	+	7	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	170					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.G170R(3)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAAGACGGAAATATCTT	0.413																																						uc003maf.3																			3	Substitution - Missense(3)	p.G170R(6)	large_intestine(2)|prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(508-510)Gga>Aga		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							161.0	151.0	155.0					5																	169108785		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169108785G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.508G>A	5.37:g.169108785G>A	ENSP00000256935:p.Gly170Arg					DOCK2_uc011der.2_Non-coding_Transcript	p.G170R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	588	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	170					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.508G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852928	0.91355	.	.	ENSG00000134516	ENST00000256935	T	0.61859	0.07	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84909	0.0847	10	0.56958	D	0.05	.	18.0283	0.89275	0.0:0.0:1.0:0.0	.	170	Q92608	DOCK2_HUMAN	R	170	ENSP00000256935:G170R	ENSP00000256935:G170R	G	+	1	0	DOCK2	169041363	1.000000	0.71417	0.995000	0.50966	0.843000	0.47879	9.412000	0.97347	2.323000	0.78572	0.655000	0.94253	GGA		0.413	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
RRP36	88745	broad.mit.edu	37	6	42993026	42993026	+	Silent	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:42993026C>A	ENST00000244496.5	+	3	314	c.304C>A	c.(304-306)Cga>Aga	p.R102R		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	102					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AGCCAAGATCCGAGTACCATT	0.493																																						uc003otp.1																			0		p.I101M(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(304-306)Cga>Aga		Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.							123.0	120.0	121.0					6																	42993026		2203	4300	6503	SO:0001819	synonymous_variant	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42993026C>A	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.304C>A	6.37:g.42993026C>A							p.R102R	NM_033112	NP_149103	Q96EU6	RRP36_HUMAN			2	312	+			102					Q9BRF6|Q9P0C8	Silent	SNP	ENST00000244496.5	37	c.304C>A	CCDS34453.1																																																																																				0.493	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112	
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:51947198G>A	ENST00000371117.3	-	4	548	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_ENST00000340994.4_Silent_p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	91	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.C91C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478																																						uc003pah.1																			2	Substitution - coding silent(2)	p.C91C(3)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(271-273)tgC>tgT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							167.0	176.0	173.0					6																	51947198		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947198G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.273C>T	6.37:g.51947198G>A						PKHD1_uc003pai.3_Silent_p.C91C	p.C91C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			3	549	-	Lung NSC(77;0.0605)		91			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.273C>T	CCDS4935.1																																																																																				0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
HCRTR2	3062	broad.mit.edu	37	6	55120034	55120034	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:55120034G>A	ENST00000370862.3	+	3	839	c.503G>A	c.(502-504)cGg>cAg	p.R168Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	168					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGCAAAGCGGGCCCGTAAC	0.517																																						uc003pcl.3																			0		p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(502-504)cGg>cAg		Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.							178.0	148.0	158.0					6																	55120034		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55120034G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.503G>A	6.37:g.55120034G>A	ENSP00000359899:p.Arg168Gln					HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103Q	p.R168Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	818	+	Lung NSC(77;0.107)|Renal(3;0.122)		168					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.503G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355631	0.95854	.	.	ENSG00000137252	ENST00000370862	T	0.40476	1.03	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.49244	-0.8960	10	0.12430	T	0.62	.	18.3959	0.90497	0.0:0.0:1.0:0.0	.	168;168	Q548Y0;O43614	.;OX2R_HUMAN	Q	168	ENSP00000359899:R168Q	ENSP00000359899:R168Q	R	+	2	0	HCRTR2	55227993	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	9.476000	0.97823	2.345000	0.79718	0.484000	0.47621	CGG		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
COL19A1	1310	broad.mit.edu	37	6	70840111	70840111	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:70840111A>G	ENST00000322773.4	+	18	1481	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	COL19A1_ENST00000393344.1_Missense_Mutation_p.D82G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	460	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGAAAGGAGACAAGGTAATC	0.403																																						uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1378-1380)gAc>gGc		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.							69.0	73.0	72.0					6																	70840111		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70840111A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1379A>G	6.37:g.70840111A>G	ENSP00000316030:p.Asp460Gly					COL19A1_uc010kam.2_Missense_Mutation_p.D356G	p.D460G	NM_001858	NP_001849	Q14993	COJA1_HUMAN			17	1496	+			460			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1379A>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	4.085	0.013745	0.07959	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	D;D	0.89875	-2.58;-2.58	3.1	3.1	0.35709	.	0.617705	0.14776	N	0.299056	T	0.73337	0.3574	L	0.50993	1.605	0.26713	N	0.970932	B	0.11235	0.004	B	0.19391	0.025	T	0.61637	-0.7022	10	0.23302	T	0.38	.	7.9531	0.30027	1.0:0.0:0.0:0.0	.	460	Q14993	COJA1_HUMAN	G	460;82;34	ENSP00000316030:D460G;ENSP00000377013:D82G	ENSP00000316030:D460G	D	+	2	0	COL19A1	70896832	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	1.281000	0.33214	1.646000	0.50622	0.383000	0.25322	GAC		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
ZNF292	23036	broad.mit.edu	37	6	87967291	87967291	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:87967291G>C	ENST00000369577.3	+	8	3987	c.3944G>C	c.(3943-3945)gGt>gCt	p.G1315A	ZNF292_ENST00000339907.4_Missense_Mutation_p.G1310A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1315						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGGGTAATGGTGAAAATGCA	0.383																																						uc003plm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3943-3945)gGt>gCt		Homo sapiens zinc finger protein 292 (ZNF292), mRNA.							28.0	27.0	27.0					6																	87967291		1857	4096	5953	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967291G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3944G>C	6.37:g.87967291G>C	ENSP00000358590:p.Gly1315Ala						p.G1315A	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	7	3985	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1315					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.3944G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074778	0.01903	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.05258	3.47;3.48	5.5	2.6	0.31112	.	0.608537	0.18045	N	0.153477	T	0.00496	0.0016	N	0.02011	-0.69	0.24475	N	0.994376	B	0.02656	0.0	B	0.04013	0.001	T	0.46596	-0.9180	10	0.02654	T	1	.	3.2914	0.06950	0.0863:0.1295:0.3585:0.4258	.	1315	O60281	ZN292_HUMAN	A	1315;1310	ENSP00000358590:G1315A;ENSP00000342847:G1310A	ENSP00000342847:G1310A	G	+	2	0	ZNF292	88024010	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	2.599000	0.46231	1.303000	0.44873	0.650000	0.86243	GGT		0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
IQCE	23288	broad.mit.edu	37	7	2611946	2611946	+	Missense_Mutation	SNP	G	G	A	rs199937900		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:2611946G>A	ENST00000402050.2	+	5	564	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IQCE_ENST00000325979.7_Missense_Mutation_p.R62H|IQCE_ENST00000438376.2_Missense_Mutation_p.R111H|IQCE_ENST00000404984.1_Missense_Mutation_p.R76H	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	127						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CATCTCAGGCGCTCTGCCAGC	0.617																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(379-381)cGc>cAc		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							34.0	37.0	36.0					7																	2611946		2068	4218	6286	SO:0001583	missense	23288							g.chr7:2611946G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.380G>A	7.37:g.2611946G>A	ENSP00000385597:p.Arg127His					IQCE_uc010ksm.1_Missense_Mutation_p.R127H|IQCE_uc011jvy.1_Missense_Mutation_p.R111H|IQCE_uc011jvz.1_Missense_Mutation_p.R62H|IQCE_uc003smo.4_Missense_Mutation_p.R127H|IQCE_uc003smk.4_Missense_Mutation_p.R111H|IQCE_uc003smn.4_Missense_Mutation_p.R62H	p.R127H	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	4	564	+		Ovarian(82;0.0112)	127					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.380G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283735	0.10458	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.58358	2.89;2.89;0.34;2.89;2.89;2.89	3.99	0.941	0.19519	.	0.546927	0.18455	N	0.140710	T	0.41373	0.1156	L	0.57536	1.79	0.26418	N	0.976156	P;P;P;B;P;P	0.44260	0.707;0.83;0.766;0.317;0.83;0.588	B;B;B;B;B;B	0.38264	0.102;0.269;0.158;0.026;0.269;0.103	T	0.35549	-0.9784	10	0.59425	D	0.04	-0.0945	4.7748	0.13173	0.0883:0.1494:0.6081:0.1542	.	62;111;62;127;127;111	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	H	127;76;127;111;62;62;62	ENSP00000385597:R127H;ENSP00000385945:R76H;ENSP00000404643:R127H;ENSP00000396178:R111H;ENSP00000313772:R62H;ENSP00000413570:R62H	ENSP00000313772:R62H	R	+	2	0	IQCE	2578472	0.974000	0.33945	0.312000	0.25196	0.098000	0.18820	0.764000	0.26532	0.055000	0.16094	-0.274000	0.10170	CGC		0.617	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	
OGDH	4967	broad.mit.edu	37	7	44736643	44736643	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:44736643C>T	ENST00000222673.5	+	15	2073	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	OGDH_ENST00000439616.2_Silent_p.D527D|OGDH_ENST00000543843.1_Silent_p.D628D|OGDH_ENST00000449767.1_Silent_p.D673D|OGDH_ENST00000444676.1_Silent_p.D692D|OGDH_ENST00000447398.1_Silent_p.D688D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	677					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)	GCGGCCAGGACGTGGAGCGGG	0.552																																						uc003tln.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2029-2031)gaC>gaT		Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						100.0	79.0	86.0					7																	44736643		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44736643C>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.2031C>T	7.37:g.44736643C>T						OGDH_uc011kbx.2_Silent_p.D673D|OGDH_uc011kby.2_Silent_p.D527D|OGDH_uc003tlp.3_Silent_p.D688D|OGDH_uc011kbz.2_Silent_p.D472D|OGDH_uc003tlo.1_Silent_p.D510D	p.D677D	NM_002541	NP_002532	Q02218	ODO1_HUMAN			14	2190	+			677					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2031C>T	CCDS34627.1																																																																																				0.552	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:55233037C>T	ENST00000275493.2	+	15	1964	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_ENST00000454757.2_Missense_Mutation_p.P543L|EGFR_ENST00000342916.3_Missense_Mutation_p.P596L|EGFR_ENST00000455089.1_Missense_Mutation_p.P551L|EGFR_ENST00000442591.1_Missense_Mutation_p.P596L|EGFR_ENST00000344576.2_Missense_Mutation_p.P596L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					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.P596L(4)		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)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		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"""		4	Substitution - Missense(4)	p.P596L(7)	large_intestine(2)|central_nervous_system(2)	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						c.(1786-1788)cCg>cTg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93.0	81.0	85.0					7																	55233037		2203	4300	6503	SO:0001583	missense	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.chr7:55233037C>T		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.1787C>T	7.37:g.55233037C>T	ENSP00000275493:p.Pro596Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596L	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)		14	2033	+	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)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1787C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224989	0.95173	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.996;0.99;0.994	D	0.86044	0.1521	10	0.87932	D	0	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	551;596;466;596;596;596;543;390	ENSP00000415559:P551L;ENSP00000342376:P596L;ENSP00000345973:P596L;ENSP00000275493:P596L;ENSP00000410031:P596L;ENSP00000395243:P543L	ENSP00000275493:P596L	P	+	2	0	EGFR	55200531	1.000000	0.71417	0.967000	0.41034	0.752000	0.42762	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ZNF716	441234	broad.mit.edu	37	7	57529294	57529294	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:57529294G>T	ENST00000420713.1	+	4	1239	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.413																																						uc011kdi.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(1126-1128)gGa>gTa		Homo sapiens zinc finger protein 716 (ZNF716), mRNA.							44.0	46.0	46.0					7																	57529294		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529294G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1127G>T	7.37:g.57529294G>T	ENSP00000394248:p.Gly376Val						p.G376V	NM_001159279	NP_001152751					3	1239	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.1127G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991299	0.35131	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.23552	1.9	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39835	0.1093	M	0.83953	2.67	0.58432	D	0.999995	D	0.65815	0.995	P	0.54706	0.759	T	0.39165	-0.9627	9	0.87932	D	0	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	364	A6NP11	ZN716_HUMAN	V	376;364	ENSP00000394248:G376V	ENSP00000387687:G364V	G	+	2	0	ZNF716	57533236	0.997000	0.39634	0.013000	0.15412	0.013000	0.08279	3.028000	0.49705	0.300000	0.22699	0.306000	0.20318	GGA		0.413	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279	
GTF2IRD2	84163	broad.mit.edu	37	7	74234528	74234528	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:74234528C>T	ENST00000405086.2	-	7	786	c.597G>A	c.(595-597)gcG>gcA	p.A199A	GTF2IRD2_ENST00000361071.5_Silent_p.A199A|GTF2IRD2_ENST00000453619.2_Silent_p.A199A	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TGGATCTCTCCGCATCTGTTA	0.443																																					NSCLC(40;560 1096 7501 40315 49546)	uc003ubd.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(595-597)gcG>gcA		Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.							10.0	7.0	8.0					7																	74234528		1463	3034	4497	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74234528C>T	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.597G>A	7.37:g.74234528C>T						GTF2IRD2_uc011kfi.2_Silent_p.A199A|GTF2IRD2_uc003ube.1_5'Flank|GTF2IRD2_uc003ubf.1_Silent_p.A199A	p.A199A	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN			6	781	-			199					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.597G>A	CCDS5576.1																																																																																				0.443	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537	
PCLO	27445	broad.mit.edu	37	7	82763627	82763627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:82763627delG	ENST00000333891.9	-	3	3576	c.3239delC	c.(3238-3240)actfs	p.T1080fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1080fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGCATTCAGTGCAAGTATT	0.353																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3238-3240)actfs		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							48.0	44.0	45.0					7																	82763627		1857	4098	5955	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763627delG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3239delC	7.37:g.82763627delG	ENSP00000334319:p.Thr1080fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs	p.T1080fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	3528	-			1026						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3239delC	CCDS47630.1																																																																																				0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SLC12A9	56996	broad.mit.edu	37	7	100459452	100459452	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:100459452G>C	ENST00000354161.3	+	12	1755	c.1630G>C	c.(1630-1632)Gcc>Ccc	p.A544P	SLC12A9_ENST00000415287.1_Missense_Mutation_p.A455P|SLC12A9_ENST00000540482.1_Missense_Mutation_p.A544P|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A455P|SLC12A9_ENST00000428758.1_Missense_Mutation_p.A544P	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	544					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.A544P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCCGGGGCGCCCTGCCTCT	0.657																																						uc003uwp.3																			1	Substitution - Missense(1)	p.A544P(2)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1630-1632)Gcc>Ccc		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.							31.0	37.0	35.0					7																	100459452		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459452G>C	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1630G>C	7.37:g.100459452G>C	ENSP00000275730:p.Ala544Pro					SLC12A9_uc003uwq.3_Missense_Mutation_p.A455P|SLC12A9_uc011kki.2_Missense_Mutation_p.A75P|SLC12A9_uc003uwr.3_Missense_Mutation_p.A280P|SLC12A9_uc003uws.3_Missense_Mutation_p.A75P|SLC12A9_uc003uwt.3_Missense_Mutation_p.A280P|SLC12A9_uc003uwv.3_Missense_Mutation_p.A75P	p.A544P	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			11	1772	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		544					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1630G>C	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730854	0.48939	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.91351	-2.56;-2.55;-2.18;-2.18;-2.83	5.56	2.67	0.31697	.	0.380748	0.29113	N	0.013107	D	0.88526	0.6460	L	0.27053	0.805	0.09310	N	0.999991	D;B	0.63046	0.992;0.279	D;B	0.64237	0.923;0.346	T	0.78585	-0.2147	10	0.49607	T	0.09	.	4.353	0.11165	0.17:0.0:0.487:0.343	.	455;544	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	P	544;544;455;455;544;170	ENSP00000443702:A544P;ENSP00000408301:A544P;ENSP00000275729:A455P;ENSP00000413796:A455P;ENSP00000275730:A544P	ENSP00000275729:A455P	A	+	1	0	SLC12A9	100297388	0.064000	0.20934	0.497000	0.27552	0.993000	0.82548	0.596000	0.24044	0.651000	0.30788	0.478000	0.44815	GCC		0.657	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	
PTN	5764	broad.mit.edu	37	7	136938378	136938378	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:136938378T>A	ENST00000348225.2	-	3	549	c.122A>T	c.(121-123)aAa>aTa	p.K41I	PTN_ENST00000393083.2_Missense_Mutation_p.K41I	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	41					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCTTCACTTTTTTTTCTGA	0.473																																						uc003vtq.2																			0		p.K40I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(121-123)aAa>aTa		Homo sapiens pleiotrophin (PTN), mRNA.							43.0	44.0	43.0					7																	136938378		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938378T>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.122A>T	7.37:g.136938378T>A	ENSP00000341170:p.Lys41Ile						p.K41I	NM_002825	NP_002816	P21246	PTN_HUMAN			2	485	-			41					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.122A>T	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.044530	0.93685	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.66	5.66	0.87406	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.096943	0.64402	D	0.000001	T	0.65842	0.2730	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.69394	-0.5157	9	0.62326	D	0.03	-13.4773	15.8997	0.79362	0.0:0.0:0.0:1.0	.	41;41	C9JR52;P21246	.;PTN_HUMAN	I	41	.	ENSP00000341170:K41I	K	-	2	0	PTN	136588918	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.829000	0.86735	2.157000	0.67596	0.482000	0.46254	AAA		0.473	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825	
ATP6V0A4	50617	broad.mit.edu	37	7	138440463	138440463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:138440463C>T	ENST00000310018.2	-	10	1069	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.V263I|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.V263I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	263					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCACATTGACGCTCTCCAAC	0.522																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(787-789)Gtc>Atc		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							144.0	128.0	134.0					7																	138440463		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138440463C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.787G>A	7.37:g.138440463C>T	ENSP00000308122:p.Val263Ile					ATP6V0A4_uc003vug.3_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.V263I	p.V263I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			8	1025	-			263					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.787G>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514528	0.44763	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86097	-2.07;-2.07;-2.07	6.17	3.45	0.39498	.	0.489617	0.20303	N	0.094987	T	0.79604	0.4474	L	0.49455	1.56	0.47037	D	0.999291	B	0.33857	0.429	B	0.28305	0.088	T	0.75419	-0.3324	10	0.54805	T	0.06	-30.0853	11.7342	0.51755	0.0:0.8109:0.0:0.1891	.	263	Q9HBG4	VPP4_HUMAN	I	263	ENSP00000308122:V263I;ENSP00000376774:V263I;ENSP00000253856:V263I	ENSP00000308122:V263I	V	-	1	0	ATP6V0A4	138091003	0.907000	0.30839	0.189000	0.23252	0.053000	0.15095	1.882000	0.39648	0.497000	0.27926	0.655000	0.94253	GTC		0.522	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
DLGAP2	9228	broad.mit.edu	37	8	1497705	1497705	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:1497705C>T	ENST00000421627.2	+	2	980	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	361					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGCCCGACGCCAAGTACC	0.647																																						uc003wpl.3																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(844-846)gaC>gaT		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							26.0	30.0	28.0					8																	1497705		2161	4275	6436	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497705C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.846C>T	8.37:g.1497705C>T						DLGAP2_uc003wpm.3_Silent_p.D282D	p.D282D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	1	943	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	361					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.846C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339180	0.01287	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.3	-6.51	0.01878	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-10.0145	3.5557	0.07863	0.1768:0.1667:0.0886:0.5679	.	.	.	.	M	299	.	.	T	+	2	0	DLGAP2	1485112	0.626000	0.27120	0.000000	0.03702	0.028000	0.11728	-0.263000	0.08670	-2.123000	0.00823	-1.731000	0.00696	ACG		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
KCNV1	27012	broad.mit.edu	37	8	110984522	110984522	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:110984522G>T	ENST00000524391.1	-	3	1988	c.956C>A	c.(955-957)gCt>gAt	p.A319D	KCNV1_ENST00000297404.1_Missense_Mutation_p.A319D|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	319					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATGCGCAGAGCCCTGAGCAG	0.502																																						uc003ynr.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(955-957)gCt>gAt		Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.							79.0	71.0	74.0					8																	110984522		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984522G>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.956C>A	8.37:g.110984522G>T	ENSP00000435954:p.Ala319Asp					KCNV1_uc010mcw.3_Missense_Mutation_p.A319D	p.A319D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		1	1760	-	all_neural(195;0.219)		319					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.956C>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777686	0.70107	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98684	-5.07;-5.07	5.95	5.95	0.96441	Ion transport (1);	0.060159	0.64402	D	0.000003	D	0.98169	0.9395	L	0.49571	1.57	0.48901	D	0.999727	P	0.49307	0.922	P	0.49953	0.627	D	0.99123	1.0850	10	0.87932	D	0	.	19.3629	0.94448	0.0:0.0:1.0:0.0	.	319	Q6PIU1	KCNV1_HUMAN	D	319;319;195	ENSP00000435954:A319D;ENSP00000297404:A319D	ENSP00000297404:A319D	A	-	2	0	KCNV1	111053698	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.811000	0.62606	2.817000	0.96982	0.563000	0.77884	GCT		0.502	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
CSMD3	114788	broad.mit.edu	37	8	113988211	113988211	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:113988211C>T	ENST00000297405.5	-	7	1441	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	CSMD3_ENST00000343508.3_Silent_p.T359T|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Silent_p.T399T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	399						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGAGACTCGTAACTTGCA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1195-1197)acG>acA		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							214.0	186.0	196.0					8																	113988211		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113988211C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1197G>A	8.37:g.113988211C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.3_Silent_p.T359T|CSMD3_uc011lhx.2_Intron	p.T399T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			6	1356	-			399					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.1197G>A	CCDS6315.1																																																																																				0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
GABBR2	9568	broad.mit.edu	37	9	101235479	101235479	+	Silent	SNP	G	G	A	rs369085352		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:101235479G>A	ENST00000259455.2	-	6	1407	c.948C>T	c.(946-948)ggC>ggT	p.G316G	GABBR2_ENST00000477471.1_5'Flank	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	316					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGAAATCCACGCCAATGTAGC	0.572																																						uc004ays.3																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(946-948)ggC>ggT		Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	Baclofen(DB00181)	A		0,4406		0,0,2203	158.0	117.0	131.0		948	-11.9	0.0	9		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GABBR2	NM_005458.7		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		316/942	101235479	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101235479G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.948C>T	9.37:g.101235479G>A							p.G316G	NM_005458	NP_005449	O75899	GABR2_HUMAN			5	1408	-		Acute lymphoblastic leukemia(62;0.0527)	316					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.948C>T	CCDS6736.1																																																																																				0.572	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
TSC1	7248	broad.mit.edu	37	9	135804224	135804224	+	Silent	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:135804224G>T	ENST00000298552.3	-	3	257	c.36C>A	c.(34-36)gcC>gcA	p.A12A	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Silent_p.A12A|TSC1_ENST00000545250.1_Silent_p.A12A|TSC1_ENST00000440111.2_Silent_p.A12A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	12					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.A12A(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGTCCAGCATGGCAAGAAGCT	0.502			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Substitution - coding silent(1)	p.A12A(2)	central_nervous_system(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(34-36)gcC>gcA		Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.							110.0	91.0	98.0					9																	135804224		2203	4300	6503	SO:0001819	synonymous_variant	7248	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135804224G>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.36C>A	9.37:g.135804224G>T						TSC1_uc004ccb.3_Silent_p.A12A|TSC1_uc011mcq.1_Silent_p.A12A|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	p.A12A	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	2	270	-			12					B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	c.36C>A	CCDS6956.1																																																																																				0.502	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
LCN1	3933	broad.mit.edu	37	9	138415812	138415812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:138415812C>T	ENST00000263598.2	+	4	439	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	LCN1_ENST00000371781.3_Missense_Mutation_p.P127S	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	127					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GCACGGGAAGCCGGTCCGAGG	0.632																																						uc022bpk.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(379-381)Ccg>Tcg		Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.							83.0	69.0	74.0					9																	138415812		2203	4300	6503	SO:0001583	missense	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415812C>T		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.379C>T	9.37:g.138415812C>T	ENSP00000263598:p.Pro127Ser					LCN1_uc022bpj.1_Missense_Mutation_p.P127S|LCN1_uc004cfz.2_Missense_Mutation_p.P127S|LCN1_uc004cga.2_Missense_Mutation_p.P127S	p.P127S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	3	439	+		Myeloproliferative disorder(178;0.0511)	127					Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	c.379C>T	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	C	0.103	-1.149964	0.01714	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.06849	3.25;3.25	3.11	-3.52	0.04682	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.336730	0.05385	N	0.538038	T	0.03305	0.0096	N	0.04959	-0.14	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.43925	-0.9361	10	0.07813	T	0.8	.	6.4234	0.21756	0.4587:0.2398:0.3015:0.0	.	127	P31025	LCN1_HUMAN	S	127	ENSP00000263598:P127S;ENSP00000360846:P127S	ENSP00000263598:P127S	P	+	1	0	LCN1	137555633	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	-0.731000	0.04862	-0.346000	0.07831	CCG		0.632	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297	
CDKL5	6792	broad.mit.edu	37	X	18664128	18664128	+	Splice_Site	SNP	C	C	T	rs201714912		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:18664128C>T	ENST00000379989.3	+	20	3000	c.2715C>T	c.(2713-2715)gaC>gaT	p.D905D	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Splice_Site_p.D905D|RS1_ENST00000476595.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	905					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													A|||	1	0.000264901	0.0	0.0	3775	,	,		14324	0.0		0.001	False		,,,				2504	0.0					uc004cym.3																			1	Substitution - coding silent(1)	p.D905D(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.e19-1		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.		A	,,	1,3834		0,1,1631,571	140.0	112.0	122.0		,2715,2715	0.6	0.1	X		122	0,6728		0,0,2428,1872	no	intron,coding-synonymous-near-splice,coding-synonymous-near-splice	RS1,CDKL5	NM_000330.3,NM_001037343.1,NM_003159.2	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	,905/1031,905/1031	18664128	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18664128C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2714-1C>T	X.37:g.18664128C>T						CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	p.D905_splice	NM_003159	NP_003150	O76039	CDKL5_HUMAN			19	2967	+	Hepatocellular(33;0.183)		905					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.2714_splice	CCDS14186.1																																																																																				0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	Silent
KIF4A	24137	broad.mit.edu	37	X	69510643	69510643	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:69510643G>T	ENST00000374403.3	+	3	305	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	PDZD11_ENST00000374454.1_5'Flank|PDZD11_ENST00000473667.1_5'Flank|PDZD11_ENST00000239666.4_5'Flank|KIF4A_ENST00000374388.3_Missense_Mutation_p.G75C|KIF4A_ENST00000485406.1_3'UTR	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	75	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACTCATAAAAGGTGTATTTAA	0.408																																						uc004dyg.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(223-225)Ggt>Tgt		Homo sapiens kinesin family member 4A (KIF4A), mRNA.							110.0	86.0	94.0					X																	69510643		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69510643G>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.223G>T	X.37:g.69510643G>T	ENSP00000363524:p.Gly75Cys					KIF4A_uc010nkw.3_Missense_Mutation_p.G75C|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.2_Missense_Mutation_p.G75C	p.G75C	NM_012310	NP_036442	O95239	KIF4A_HUMAN			2	366	+			75			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.223G>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	g	31	5.061086	0.93846	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.73469	-0.75;-0.75	5.43	5.43	0.79202	Kinesin, motor domain (4);	0.092556	0.47455	D	0.000223	D	0.84170	0.5413	M	0.65498	2.005	0.80722	D	1	P;P	0.51057	0.92;0.941	P;P	0.62560	0.904;0.754	D	0.85680	0.1300	10	0.87932	D	0	.	17.1593	0.86800	0.0:0.0:1.0:0.0	.	75;75	O95239;O95239-2	KIF4A_HUMAN;.	C	75	ENSP00000363509:G75C;ENSP00000363524:G75C	ENSP00000363509:G75C	G	+	1	0	KIF4A	69427368	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.820000	0.92003	2.521000	0.84997	0.597000	0.82753	GGT		0.408	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
DIAPH2	1730	broad.mit.edu	37	X	96684727	96684727	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:96684727G>A	ENST00000324765.8	+	26	3571	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	DIAPH2_ENST00000373049.4_Missense_Mutation_p.R1075Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R1075Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R1071Q|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R1075Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1075	Arg/Lys-rich (basic).|DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTCGAAAGCGGATTCCAAGG	0.408													G|||	1	0.000264901	0.0008	0.0	3775	,	,		11677	0.0		0.0	False		,,,				2504	0.0					uc004efu.4																			0		p.R1075W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(3223-3225)cGg>cAg		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							69.0	61.0	64.0					X																	96684727		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96684727G>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3224G>A	X.37:g.96684727G>A	ENSP00000321348:p.Arg1075Gln					DIAPH2_uc004eft.4_Missense_Mutation_p.R1075Q	p.R1075Q	NM_006729	NP_006720	O60879	DIAP2_HUMAN			25	3620	+			1075			Arg/Lys-rich (basic).|DAD.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.3224G>A	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495275	0.64186	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83673	-1.67;-1.66;-1.75;-1.75;-1.67	5.31	5.31	0.75309	Diaphanous autoregulatory (1);	0.000000	0.64402	D	0.000002	D	0.91071	0.7190	M	0.73962	2.25	0.42132	D	0.991478	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.92151	0.5728	10	0.72032	D	0.01	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	1075;1075	O60879;O60879-2	DIAP2_HUMAN;.	Q	1075;1071;1075;1075;1075;1082	ENSP00000362152:R1075Q;ENSP00000362145:R1071Q;ENSP00000348082:R1075Q;ENSP00000362140:R1075Q;ENSP00000321348:R1075Q	ENSP00000321348:R1075Q	R	+	2	0	DIAPH2	96571383	1.000000	0.71417	0.991000	0.47740	0.644000	0.38419	8.380000	0.90149	2.351000	0.79841	0.600000	0.82982	CGG		0.408	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
ALG13	79868	broad.mit.edu	37	X	110925413	110925413	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:110925413G>A	ENST00000394780.3	+	2	147	c.135G>A	c.(133-135)acG>acA	p.T45T	ALG13_ENST00000251943.4_De_novo_Start_InFrame|ALG13_ENST00000371979.3_Silent_p.T45T	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	45	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GTAGAGGAACGGTGGTACCTG	0.413																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(133-135)acG>acA		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							160.0	134.0	143.0					X																	110925413		2203	4300	6503	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110925413G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.135G>A	X.37:g.110925413G>A						ALG13_uc022ccl.1_Silent_p.T45T|ALG13_uc022ccm.1_Intron|ALG13_uc022ccn.1_Silent_p.T45T|ALG13_uc004epi.2_Silent_p.T45T|ALG13_uc011msw.2_5'UTR|ALG13_uc011msx.2_Intron|ALG13_uc022ccp.1_Intron|ALG13_uc022cco.1_Non-coding_Transcript|ALG13_uc011msz.2_5'UTR|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_5'UTR|ALG13_uc022ccq.1_Non-coding_Transcript	p.T45T	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN			1	236	+			45					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.135G>A	CCDS55477.1																																																																																				0.413	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	
TENM1	10178	broad.mit.edu	37	X	123554390	123554390	+	Missense_Mutation	SNP	C	C	T	rs148440423	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:123554390C>T	ENST00000371130.3	-	24	4795	c.4732G>A	c.(4732-4734)Gcg>Acg	p.A1578T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.A1585T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1578					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGGTAATCGCGCCCAAGTCA	0.498																																						uc010nqy.3																			0		p.N1585N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(4753-4755)Gcg>Acg		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	4,3831		0,4,1628,571	109.0	79.0	89.0		4753,4750,4732	5.3	0.8	X	dbSNP_134	89	0,6728		0,0,2428,1872	yes	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	58,58,58	0,4,4056,2443	TT,TC,CC,C		0.0,0.1043,0.0379	benign,benign,benign	1585/2733,1584/2732,1578/2726	123554390	4,10559	2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123554390C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4732G>A	X.37:g.123554390C>T	ENSP00000360171:p.Ala1578Thr					ODZ1_uc011muj.2_Missense_Mutation_p.A1584T|ODZ1_uc004euj.3_Missense_Mutation_p.A1578T	p.A1585T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			24	4817	-			1578					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4753G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	2.610	-0.291053	0.05568	0.001043	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84730	-1.89;-1.87	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);	0.204155	0.44483	D	0.000451	T	0.61924	0.2386	N	0.05124	-0.11	0.28956	N	0.890135	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.54899	-0.8224	10	0.02654	T	1	.	4.6438	0.12561	0.2084:0.6473:0.0:0.1442	.	1584;1585;1578	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	1578;1585	ENSP00000360171:A1578T;ENSP00000403954:A1585T	ENSP00000360171:A1578T	A	-	1	0	ODZ1	123382071	0.877000	0.30153	0.773000	0.31616	0.940000	0.58332	1.524000	0.35942	2.224000	0.72417	0.513000	0.50165	GCG		0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
SPANXN2	494119	broad.mit.edu	37	X	142795381	142795381	+	Silent	SNP	G	G	A	rs200898233		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:142795381G>A	ENST00000370498.1	-	2	1050	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	99										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCTTCGTCCTCCTGTG	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		13827	0.001		0.0	False		,,,				2504	0.0					uc004fbz.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(295-297)gaC>gaT		Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.							262.0	235.0	244.0					X																	142795381		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142795381G>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.297C>T	X.37:g.142795381G>A							p.D99D	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			1	1051	-	Acute lymphoblastic leukemia(192;6.56e-05)		99					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.297C>T	CCDS35419.1																																																																																				0.527	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615	
MAGEA1	4100	broad.mit.edu	37	X	152482500	152482500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:152482500G>A	ENST00000356661.5	-	3	729	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	171	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)	p.L171F(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGACAAGGACATAGGAG	0.517																																						uc022chs.1																			1	Substitution - Missense(1)	p.L171F(2)	central_nervous_system(1)	breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(511-513)Ctt>Ttt		Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.							115.0	107.0	110.0					X																	152482500		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482500G>A		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.511C>T	X.37:g.152482500G>A	ENSP00000349085:p.Leu171Phe					MAGEA1_uc004fhf.2_Missense_Mutation_p.L171F	p.L171F	NM_004988	NP_004979	P43355	MAGA1_HUMAN			0	511	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		171			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.511C>T	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	G	8.795	0.931500	0.18131	.	.	ENSG00000198681	ENST00000356661	T	0.16073	2.37	1.28	1.28	0.21552	.	0.132704	0.50627	D	0.000110	T	0.18341	0.0440	M	0.62088	1.915	0.09310	N	1	B	0.29432	0.244	B	0.36959	0.237	T	0.14035	-1.0487	10	0.51188	T	0.08	.	5.5207	0.16931	0.0:0.0:1.0:0.0	.	171	P43355	MAGA1_HUMAN	F	171	ENSP00000349085:L171F	ENSP00000349085:L171F	L	-	1	0	MAGEA1	152135694	0.741000	0.28217	0.035000	0.18076	0.046000	0.14306	1.510000	0.35790	0.924000	0.37069	0.190000	0.17370	CTT		0.517	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988	
DNASE1L1	1774	broad.mit.edu	37	X	153631649	153631649	+	Silent	SNP	G	G	A	rs368820912		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:153631649G>A	ENST00000393638.1	-	6	772	c.486C>T	c.(484-486)taC>taT	p.Y162Y	DNASE1L1_ENST00000369809.1_Silent_p.Y162Y|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	162					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAACACATCGTAGAGGGCGT	0.622																																						uc004fkr.1																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(313-315)Gta>Ata		Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.			,,,	0,3835		0,0,0,1632,571	88.0	79.0	82.0		486,486,486,486	-4.6	0.0	X		82	2,6725		0,1,1,2427,1870	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNASE1L1	NM_001009932.1,NM_001009933.1,NM_001009934.1,NM_006730.2	,,,	0,1,1,4059,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189	,,,	162/303,162/303,162/303,162/303	153631649	2,10560	2203	4299	6502	SO:0001819	synonymous_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153631649G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.486C>T	X.37:g.153631649G>A						RPL10_uc004fkq.1_Non-coding_Transcript|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	p.V105I	NM_006013	NP_006004	P27635	RL10_HUMAN			2	348	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		0					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.313G>A	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	5.562	0.288594	0.10513	0.0	2.97E-4	ENSG00000147403	ENST00000427682	.	.	.	5.11	-4.55	0.03441	.	.	.	.	.	T	0.51873	0.1700	.	.	.	0.36658	D	0.877783	.	.	.	.	.	.	T	0.52571	-0.8558	5	0.21540	T	0.41	-25.1999	13.6737	0.62440	0.642:0.0:0.358:0.0	.	.	.	.	I	90	.	ENSP00000405064:V90I	V	+	1	0	RPL10	153284843	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.416000	0.07097	-1.251000	0.02494	-0.195000	0.12781	GTA		0.622	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2		
