#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
RPL22	6146	broad.mit.edu	37	1	6257817	6257818	+	Splice_Site	INS	-	-	ACAGGAGCCA			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:6257817_6257818insACAGGAGCCA	ENST00000234875.4	-	2	51		c.e2-1		RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_Splice_Site	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22						alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386			T	RUNX1	"""AML, CML"""																																	ENST00000234875.4		NA		Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		"""AML, CML"""		0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.e2-1		ribosomal protein L22																																				SO:0001630	splice_region_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257817_6257818insACAGGAGCCA	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.13-1->TGGCTCCTGT	1.37:g.6257817_6257818insACAGGAGCCA		False	False		Somatic	0				RPL22_ENST00000497965.1_Splice_Site|RPL22_ENST00000484532.1_5'UTR		NM_000983.3	NP_000974.1	WXS	Illumina HiSeq	Phase_I	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	51	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	NA					B2R495|Q6IBD1	Splice_Site	INS	ENST00000234875.4	37		CCDS58.1																																																																																				0.386	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	0	NM_000983	Intron	1:6257817
RPL22	6146	broad.mit.edu	37	1	6257818	6257819	+	Splice_Site	INS	-	-	GGCGGCAGCGGAGTTAGA			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:6257818_6257819insGGCGGCAGCGGAGTTAGA	ENST00000234875.4	-	2	51		c.e2-2		RPL22_ENST00000484532.1_5'Flank|RPL22_ENST00000497965.1_Splice_Site	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22						alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AAGCTTTTTCTAAGAAAATACA	0.386			T	RUNX1	"""AML, CML"""																																	ENST00000234875.4		NA		Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		"""AML, CML"""		0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.e2-2		ribosomal protein L22																																				SO:0001630	splice_region_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257818_6257819insGGCGGCAGCGGAGTTAGA	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.13-2->TCTAACTCCGCTGCCGCC	1.37:g.6257818_6257819insGGCGGCAGCGGAGTTAGA		False	False		Somatic	0				RPL22_ENST00000497965.1_Splice_Site		NM_000983.3	NP_000974.1	WXS	Illumina HiSeq	Phase_I	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	51	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	NA					B2R495|Q6IBD1	Splice_Site	INS	ENST00000234875.4	37		CCDS58.1																																																																																				0.386	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	0	NM_000983	Intron	1:6257818
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
AAK1	22848	broad.mit.edu	37	2	69741760	69741765	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-	rs77547121		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	TGTTGC	TGTTGC	-	-	TGTTGC	TGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:69741760_69741765delTGTTGC	ENST00000409085.4	-	13	1990_1995	c.1614_1619delGCAACA	c.(1612-1620)cagcaacaa>caa	p.538_540QQQ>Q	RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgttgttgctgctgctgct	0.544																																						ENST00000409085.4		NA																	2	Substitution - coding silent(2)	p.Q538Q(2)	kidney(2)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(1612-1620)cagcaacaa>caa		AP2 associated kinase 1																																				SO:0001651	inframe_deletion	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69741760_69741765delTGTTGC	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1614_1619delGCAACA	2.37:g.69741760_69741765delTGTTGC	ENSP00000386456:p.Gln544_Gln545del	True	False		Somatic	1				AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q	p.538_540QQQ>Q	NM_014911.3	NP_055726.3	WXS	Illumina HiSeq	Phase_I	Q2M2I8	AAK1_HUMAN			13	1990_1995	-			538			Gln-rich.		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	ENST00000409085.4	37	c.1614_1619delGCAACA	CCDS1893.2																																																																																				0.544	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	0	NM_014911		2:69741760
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
SEC22C	9117	broad.mit.edu	37	3	42605157	42605158	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:42605157_42605158insAT	ENST00000264454.3	-	3	346_347	c.203_204insAT	c.(202-204)gtgfs	p.V68fs	SEC22C_ENST00000273156.7_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000423701.2_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000536332.1_De_novo_Start_OutOfFrame|SEC22C_ENST00000417572.1_Frame_Shift_Ins_p.V68fs			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	68	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCATGCAGGCCACGTCCCCGAA	0.515																																						ENST00000273156.7		NA																	0				endometrium(1)|large_intestine(2)	3						c.(202-204)gtgfs		SEC22 vesicle trafficking protein homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42605157_42605158insAT	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.203_204insAT	3.37:g.42605157_42605158insAT	ENSP00000264454:p.Val68fs	False	False		Somatic	0				SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000264454.3_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000423701.2_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000536332.1_De_novo_Start_OutOfFrame	p.V68fs	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	WXS	Illumina HiSeq	Phase_I	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	3	412_413	-			68			Longin.		O95152|Q68CX3|Q6UW18	Frame_Shift_Ins	INS	ENST00000264454.3	37	c.203_204insAT	CCDS2700.1																																																																																				0.515	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	0	NM_004206		3:42605157
SEC22C	9117	broad.mit.edu	37	3	42605159	42605160	+	Frame_Shift_Ins	INS	-	-	GCTTTTCTTGAGTTTGGTTT			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:42605159_42605160insGCTTTTCTTGAGTTTGGTTT	ENST00000264454.3	-	3	344_345	c.201_202insAAACCAAACTCAAGAAAAGC	c.(199-204)gacgtgfs	p.V68fs	SEC22C_ENST00000273156.7_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000423701.2_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000536332.1_5'UTR|SEC22C_ENST00000417572.1_Frame_Shift_Ins_p.V68fs			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	68	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ATGCAGGCCACGTCCCCGAAAG	0.515																																						ENST00000273156.7		NA																	0				endometrium(1)|large_intestine(2)	3						c.(199-204)gacgtgfs		SEC22 vesicle trafficking protein homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42605159_42605160insGCTTTTCTTGAGTTTGGTTT	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.201_202insAAACCAAACTCAAGAAAAGC	3.37:g.42605159_42605160insGCTTTTCTTGAGTTTGGTTT	ENSP00000264454:p.Val68fs	False	False		Somatic	0				SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000264454.3_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000423701.2_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000536332.1_5'UTR	p.V68fs	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	WXS	Illumina HiSeq	Phase_I	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	3	410_411	-			68			Longin.		O95152|Q68CX3|Q6UW18	Frame_Shift_Ins	INS	ENST00000264454.3	37	c.201_202insAAACCAAACTCAAGAAAAGC	CCDS2700.1																																																																																				0.515	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	0	NM_004206		3:42605159
GUCY1A3	2982	broad.mit.edu	37	4	156631830	156631831	+	Frame_Shift_Ins	INS	-	-	TCACATAATACATGTTCTGC			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:156631830_156631831insTCACATAATACATGTTCTGC	ENST00000296518.7	+	6	722_723	c.513_514insTCACATAATACATGTTCTGC	c.(514-516)cagfs	p.Q172fs	GUCY1A3_ENST00000511507.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000513574.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000511108.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000393832.3_De_novo_Start_OutOfFrame|GUCY1A3_ENST00000506455.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000455639.2_Frame_Shift_Ins_p.Q172fs			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	172					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCCTTCTGAAACAGAGCAGCCA	0.426																																						ENST00000393832.3		NA																	0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64								guanylate cyclase 1, soluble, alpha 3																																				SO:0001589	frameshift_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631830_156631831insTCACATAATACATGTTCTGC		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		Exception_encountered	4.37:g.156631830_156631831insTCACATAATACATGTTCTGC	ENSP00000296518:p.Gln172fs	True	False		Somatic	0				GUCY1A3_ENST00000513574.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000511507.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000511108.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000455639.2_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000296518.7_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000506455.1_Frame_Shift_Ins_p.Q172fs		NM_001130685.2	NP_001124157.1	WXS	Illumina HiSeq	Phase_I	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	0	612_613	+	all_hematologic(180;0.24)	Renal(120;0.0854)	NA					D3DP19|D6RDW3|O43843|Q8TAH3	Translation_Start_Site	INS	ENST00000296518.7	37		CCDS34085.1																																																																																				0.426	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2	0			4:156631830
DROSHA	29102	broad.mit.edu	37	5	31421389	31421389	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:31421389delC	ENST00000511367.2	-	29	3759	c.3515delG	c.(3514-3516)ggafs	p.G1172fs	DROSHA_ENST00000513349.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.G1172fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1172	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGTTAAGTGTCCTTCATGATG	0.378																																						ENST00000511367.2		NA																	0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3514-3516)ggafs		drosha, ribonuclease type III							177.0	186.0	183.0					5																	31421389		1870	4095	5965	SO:0001589	frameshift_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31421389delC	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3515delG	5.37:g.31421389delC	ENSP00000425979:p.Gly1172fs	False	False		Somatic	2				DROSHA_ENST00000442743.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.G1172fs|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.G1135fs	p.G1172fs	NM_013235.4	NP_037367.3	WXS	Illumina HiSeq	Phase_I	Q9NRR4	RNC_HUMAN			29	3759	-			1172			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.3515delG	CCDS47195.1																																																																																				0.378	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	0	NM_013235		5:31421389
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
FLNC	2318	broad.mit.edu	37	7	128482291	128482294	+	Frame_Shift_Del	DEL	GACG	GACG	-	rs370035829		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	GACG	GACG	-	-	GACG	GACG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:128482291_128482294delGACG	ENST00000325888.8	+	14	2389_2392	c.2128_2131delGACG	c.(2128-2133)gacggcfs	p.DG710fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	710					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACAGGACGCCGACGGCTGTCCCAT	0.623											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325888.8		NA																	0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2128-2133)gacggcfs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482291_128482294delGACG	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2128_2131delGACG	7.37:g.128482291_128482294delGACG	ENSP00000327145:p.Asp710fs	False	False		Somatic	1	OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs	p.DG710fs	NM_001458.4	NP_001449.3	WXS	Illumina HiSeq	Phase_I	Q14315	FLNC_HUMAN			14	2389_2392	+			710					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	ENST00000325888.8	37	c.2128_2131delGACG	CCDS43644.1																																																																																				0.623	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0			7:128482291
BRAF	673	broad.mit.edu	37	7	140477837	140477851	+	In_Frame_Del	DEL	TAGGTGCTGTCACAT	TAGGTGCTGTCACAT	-	rs375520366|rs397516893		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	TAGGTGCTGTCACAT	TAGGTGCTGTCACAT	-	-	TAGGTGCTGTCACAT	TAGGTGCTGTCACAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:140477837_140477851delTAGGTGCTGTCACAT	ENST00000288602.6	-	12	1517_1531	c.1457_1471delATGTGACAGCACCTA	c.(1456-1473)aatgtgacagcacctaca>aca	p.NVTAP486del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	486	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGCTGAGGTGTAGGTGCTGTCACATTCAACATTTT	0.349		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	3	Complex - deletion inframe(2)|Deletion - In frame(1)	p.L485_P490>Y(2)|p.N486_P490del(1)	lung(2)|ovary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM071573	BRAF	M		c.(1456-1473)aatgtgacagcacctaca>aca		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140477837_140477851delTAGGTGCTGTCACAT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1457_1471delATGTGACAGCACCTA	7.37:g.140477837_140477851delTAGGTGCTGTCACAT	ENSP00000288602:p.Asn486_Pro490del	False	False		Somatic	1					p.NVTAP486del	NM_004333.4	NP_004324.2	WXS	Illumina HiSeq	Phase_I	P15056	BRAF_HUMAN			12	1517_1531	-	Melanoma(164;0.00956)		486			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1457_1471delATGTGACAGCACCTA	CCDS5863.1																																																																																				0.349	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	0	NM_004333		7:140477837
CACNA1B	774	broad.mit.edu	37	9	140772549	140772550	+	In_Frame_Ins	INS	-	-	CATGGCGCTGTACAACCCCAT			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:140772549_140772550insCATGGCGCTGTACAACCCCAT	ENST00000371372.1	+	1	309_310	c.164_165insCATGGCGCTGTACAACCCCAT	c.(163-168)accatg>acCATGGCGCTGTACAACCCCATcatg	p.56_57insALYNPIM	CACNA1B_ENST00000371363.1_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000371355.4_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000371357.1_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000277551.2_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000277549.5_De_novo_Start_InFrame|RP11-188C12.3_ENST00000371390.1_RNA	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	56					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCGCGCGGACCATGGCGCTGT	0.708																																						ENST00000371372.1		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(163-168)accatg>acCATGGCGCTGTACAACCCCATcatg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)																																			SO:0001652	inframe_insertion	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140772549_140772550insCATGGCGCTGTACAACCCCAT	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.165_185dupCATGGCGCTGTACAACCCCAT	9.37:g.140772549_140772550insCATGGCGCTGTACAACCCCAT	ENSP00000360423:p.Met56_Ala57insAlaLeuTyrAsnProIleMet	False	False		Somatic	0				CACNA1B_ENST00000371355.4_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000371357.1_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000277549.5_De_novo_Start_InFrame|CACNA1B_ENST00000371363.1_In_Frame_Ins_p.56_57insALYNPIM|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_In_Frame_Ins_p.56_57insALYNPIM	p.56_57insALYNPIM	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	WXS	Illumina HiSeq	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	1	309_310	+	all_cancers(76;0.166)		56					B1AQK5	In_Frame_Ins	INS	ENST00000371372.1	37	c.164_165insCATGGCGCTGTACAACCCCAT	CCDS59522.1																																																																																				0.708	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	0	NM_000718		9:140772549
ZNF845	91664	broad.mit.edu	37	19	53848784	53848784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53848784C>T	ENST00000595091.1	+	4	260	c.41C>T	c.(40-42)gCc>gTc	p.A14V	ZNF845_ENST00000458035.1_Missense_Mutation_p.A14V			Q96IR2	ZN845_HUMAN	zinc finger protein 845	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGGGATGTGGCCATAGAATTC	0.453																																						ENST00000458035.1		NA																	0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(40-42)gCc>gTc		zinc finger protein 845							92.0	87.0	89.0					19																	53848784		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848784C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.41C>T	19.37:g.53848784C>T	ENSP00000470005:p.Ala14Val	False	False		Somatic	0				ZNF845_ENST00000595091.1_Missense_Mutation_p.A14V	p.A14V	NM_138374.1	NP_612383.1	WXS	Illumina HiSeq	Phase_I	Q96IR2	ZN845_HUMAN			3	158	+			14			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.41C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632422	0.29068	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03301	3.98	1.85	0.738	0.18319	Krueppel-associated box (4);	.	.	.	.	T	0.14527	0.0351	M	0.86864	2.845	0.21675	N	0.999596	D	0.59767	0.986	P	0.61070	0.883	T	0.05370	-1.0889	9	0.72032	D	0.01	.	6.185	0.20491	0.0:0.822:0.0:0.178	.	14	Q96IR2	ZN845_HUMAN	V	14	ENSP00000388311:A14V	ENSP00000352990:A14V	A	+	2	0	ZNF845	58540596	0.731000	0.28111	0.946000	0.38457	0.152000	0.21847	0.873000	0.28052	0.133000	0.18654	0.134000	0.15878	GCC		0.453	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	0	XM_039908		19:53848784
RDX	5962	broad.mit.edu	37	11	110108327	110108327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:110108327G>A	ENST00000343115.4	-	11	1460	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	381	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTTTTGCTCGTTTTCGTTCT	0.428																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4		NA																	0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1141-1143)Cga>Tga		radixin							181.0	172.0	175.0					11																	110108327		2201	4298	6499	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110108327G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1141C>T	11.37:g.110108327G>A	ENSP00000342830:p.Arg381*	True	False		Somatic	0				RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*	p.R381*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina HiSeq	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	11	1460	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	381			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.1141C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	41	8.898136	0.98994	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	4.84	0.62591	.	0.354723	0.25230	N	0.032165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	14.7001	0.69150	0.0:0.0:0.7205:0.2795	.	.	.	.	X	381;381;34;381;245;51	.	ENSP00000342830:R381X	R	-	1	2	RDX	109613537	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.566000	0.36396	1.364000	0.46038	0.650000	0.86243	CGA		0.428	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	0	NM_002906		11:110108327
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	rs201259366		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123.0	114.0	117.0					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His	False	False		Somatic	0				EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	p.R261H	NM_180990.3	NP_851321.2	WXS	Illumina HiSeq	Phase_I	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	0	NM_180990		17:74077738
IFNAR2	3455	broad.mit.edu	37	21	34634926	34634926	+	Intron	SNP	C	C	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:34634926C>A	ENST00000342136.4	+	9	1166				AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_Intron|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000404220.3_Missense_Mutation_p.L301I			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	tcataatgcactacagtctga	0.443																																						ENST00000404220.3		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(901-903)Cta>Ata		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						7.0	8.0	8.0					21																	34634926		1174	2274	3448	SO:0001627	intron_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34634926C>A		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.841-172C>A	21.37:g.34634926C>A		False	False		Somatic	0				IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|AP000295.9_ENST00000433395.2_Intron	p.L301I			WXS	Illumina HiSeq	Phase_I	P48551	INAR2_HUMAN			9	1230	+			0					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.901C>A	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635498	0.29068	.	.	ENSG00000159110	ENST00000382264;ENST00000404220	T;T	0.65549	-0.16;-0.16	0.784	-0.174	0.13319	.	.	.	.	.	T	0.76730	0.4028	M	0.92169	3.28	0.09310	N	1	D	0.60575	0.988	P	0.62184	0.899	T	0.64158	-0.6473	9	0.87932	D	0	.	2.9978	0.06004	0.0:0.6426:0.0:0.3574	.	301	P48551-2	.	I	301	ENSP00000371699:L301I;ENSP00000384309:L301I	ENSP00000371699:L301I	L	+	1	2	IFNAR2	33556796	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.750000	0.26334	-0.099000	0.12263	0.563000	0.77884	CTA		0.443	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1	0			21:34634926
PRPH2	5961	broad.mit.edu	37	6	42689575	42689575	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507																																						ENST00000230381.5		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(496-498)tgC>tgT		peripherin 2 (retinal degeneration, slow)							149.0	136.0	140.0					6																	42689575		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689575G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.498C>T	6.37:g.42689575G>A		False	False		Somatic	0					p.C166C	NM_000322.4	NP_000313.2	WXS	Illumina HiSeq	Phase_I	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	737	-	Colorectal(47;0.196)		166					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.498C>T	CCDS4871.1																																																																																				0.507	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	0	NM_000322		6:42689575
C3	718	broad.mit.edu	37	19	6692960	6692960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6692960G>A	ENST00000245907.6	-	26	3457	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1122					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TATCACGGGCGCATCCTCCTG	0.557																																						ENST00000245907.6		NA																	0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3364-3366)gCg>gTg		complement component 3							120.0	125.0	123.0					19																	6692960		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6692960G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3365C>T	19.37:g.6692960G>A	ENSP00000245907:p.Ala1122Val	False	False		Somatic	0					p.A1122V	NM_000064.2	NP_000055.2	WXS	Illumina HiSeq	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3457	-			1122					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3365C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535622	0.64972	.	.	ENSG00000125730	ENST00000245907	T	0.36340	1.26	5.88	-0.693	0.11298	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.399877	0.28082	N	0.016661	T	0.47673	0.1458	M	0.76574	2.34	0.22199	N	0.999292	D	0.54964	0.969	P	0.48166	0.569	T	0.61559	-0.7038	10	0.48119	T	0.1	.	21.3471	0.99952	0.0:0.223:0.777:0.0	.	1122	P01024	CO3_HUMAN	V	1122	ENSP00000245907:A1122V	ENSP00000245907:A1122V	A	-	2	0	C3	6643960	0.005000	0.15991	0.191000	0.23289	0.673000	0.39480	0.146000	0.16180	0.064000	0.16427	-0.147000	0.13772	GCG		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	NM_000064		19:6692960
NPFF	8620	broad.mit.edu	37	12	53898955	53898955	+	IGR	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:53898955C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000266987.2_Missense_Mutation_p.A217V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						AAGCGGAATGCGGCGGCCAAA	0.572																																						ENST00000266987.2		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(649-651)gCg>gTg		TAR (HIV-1) RNA binding protein 2							129.0	118.0	122.0					12																	53898955		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898955C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898955C>T		False	False		Somatic	0				TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron	p.A217V	NM_134323.1	NP_599150.1	WXS	Illumina HiSeq	Phase_I	Q15633	TRBP2_HUMAN			7	1133	+			217			DRBM 2.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.650C>T	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224601	0.95139	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.92495	-3.05;-3.05;-3.05	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97636	1.0145	10	0.87932	D	0	-16.1595	17.5584	0.87900	0.0:1.0:0.0:0.0	.	217	Q15633	TRBP2_HUMAN	V	217;196;196	ENSP00000266987:A217V;ENSP00000416077:A196V;ENSP00000377885:A196V	ENSP00000266987:A217V	A	+	2	0	TARBP2	52185222	0.999000	0.42202	0.518000	0.27811	0.879000	0.50718	4.317000	0.59184	2.759000	0.94783	0.561000	0.74099	GCG		0.572	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	0	NM_003717		12:53898955
ACAN	176	broad.mit.edu	37	15	89386864	89386864	+	Missense_Mutation	SNP	G	G	A	rs545729531		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:89386864G>A	ENST00000561243.1	+	5	1036	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	ACAN_ENST00000352105.7_Missense_Mutation_p.A346T|ACAN_ENST00000559004.1_Missense_Mutation_p.A346T|ACAN_ENST00000439576.2_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T			P16112	PGCA_HUMAN	aggrecan	346	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGCTACGACGCCATCTGCTA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16915	0.0		0.0	False		,,,				2504	0.001					ENST00000439576.2		NA																	0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1036-1038)Gcc>Acc		aggrecan							50.0	53.0	52.0					15																	89386864		2010	4166	6176	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386864G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1036G>A	15.37:g.89386864G>A	ENSP00000453342:p.Ala346Thr	False	False		Somatic	0				ACAN_ENST00000352105.7_Missense_Mutation_p.A346T|ACAN_ENST00000561243.1_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T|ACAN_ENST00000559004.1_Missense_Mutation_p.A346T	p.A346T	NM_013227.3	NP_037359.3	WXS	Illumina HiSeq	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1410	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		346					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1036G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599722	0.87055	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.10763	2.84;2.84	5.56	5.56	0.83823	.	0.000000	0.32503	N	0.006009	T	0.39172	0.1068	M	0.82517	2.595	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.974	T	0.25047	-1.0143	10	0.72032	D	0.01	-24.3884	18.5257	0.90971	0.0:0.0:1.0:0.0	.	346;346;346	E7ENV9;E7EX88;Q6PID9	.;.;.	T	346	ENSP00000387356:A346T;ENSP00000341615:A346T	ENSP00000268134:A346T	A	+	1	0	ACAN	87187868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.639000	0.98448	2.626000	0.88956	0.650000	0.86243	GCC		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	NM_001135		15:89386864
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G	rs199988926	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					ENST00000342960.5		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3868-3870)caA>caG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3870A>G	1.37:g.145325997A>G		False	False		Somatic	0				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	p.Q1290Q	NM_001039703.4	NP_001034792.4	WXS	Illumina HiSeq	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001039703		1:145325997
TRBV11-2	28581	broad.mit.edu	37	7	142197600	142197600	+	lincRNA	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:142197600G>A	ENST00000471935.1	-	0	377									T cell receptor beta variable 11-2																		ATACACGGCCGAGTCCTCAAG	0.507																																						ENST00000471935.1		NA																	0					NA															154.0	152.0	153.0					7																	142197600		1960	4151	6111			0							g.chr7:142197600G>A	L36092		7q34	2012-02-07			ENSG00000241657	ENSG00000241657		"""T cell receptors / TRB locus"""	12181	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV112, TCRBV11S2, TCRBV21S3A2N2T			OTTHUMG00000158536		7.37:g.142197600G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	377	-			NA						RNA	SNP	ENST00000471935.1	37																																																																																						0.507	TRBV11-2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351242.2	0	NG_001333		7:142197600
MRPS5	64969	broad.mit.edu	37	2	95767442	95767442	+	Missense_Mutation	SNP	G	G	A	rs376111435		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:95767442G>A	ENST00000272418.2	-	8	998	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	264	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCATCCATCCGATCAGTAGCT	0.338																																						ENST00000272418.2		NA																	0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(790-792)Cgg>Tgg		mitochondrial ribosomal protein S5		G	TRP/ARG	0,4404		0,0,2202	50.0	48.0	49.0		790	4.4	0.3	2		49	1,8599		0,1,4299	no	missense	MRPS5	NM_031902.3	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	264/431	95767442	1,13003	2202	4300	6502	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95767442G>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.790C>T	2.37:g.95767442G>A	ENSP00000272418:p.Arg264Trp	True	False		Somatic	0					p.R264W	NM_031902.3	NP_114108.1	WXS	Illumina HiSeq	Phase_I	P82675	RT05_HUMAN			8	998	-			264			S5 DRBM.		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.790C>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159629	0.38119	0.0	1.16E-4	ENSG00000144029	ENST00000272418	.	.	.	5.32	4.44	0.53790	Ribosomal protein S5, N-terminal, conserved site (1);Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.75447	2.3	0.58432	D	0.999997	D	0.67145	0.996	P	0.58970	0.849	T	0.69665	-0.5084	9	0.37606	T	0.19	-20.9735	11.6662	0.51374	0.0:0.0:0.8223:0.1777	.	264	P82675	RT05_HUMAN	W	264	.	ENSP00000272418:R264W	R	-	1	2	MRPS5	95131169	0.970000	0.33590	0.256000	0.24389	0.096000	0.18686	1.357000	0.34090	1.350000	0.45770	0.591000	0.81541	CGG		0.338	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	0	NM_031902		2:95767442
EPHB1	2047	broad.mit.edu	37	3	134514513	134514513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:134514513G>A	ENST00000398015.3	+	1	410	c.40G>A	c.(40-42)Gca>Aca	p.A14T	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	14					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGGCATCCGCAGTGGCTGC	0.687																																						ENST00000398015.3		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(40-42)Gca>Aca		EPH receptor B1							74.0	80.0	78.0					3																	134514513		1990	4168	6158	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134514513G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.40G>A	3.37:g.134514513G>A	ENSP00000381097:p.Ala14Thr	False	False		Somatic	0				EPHB1_ENST00000488154.1_3'UTR	p.A14T	NM_004441.4	NP_004432.1	WXS	Illumina HiSeq	Phase_I	P54762	EPHB1_HUMAN			1	410	+			14					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.40G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180804	0.38511	.	.	ENSG00000154928	ENST00000398015	T	0.73152	-0.72	4.5	4.5	0.54988	.	0.872352	0.09539	N	0.788515	T	0.70290	0.3207	L	0.28400	0.85	0.80722	D	1	D;D	0.62365	0.991;0.959	P;P	0.52957	0.714;0.499	T	0.63554	-0.6611	10	0.32370	T	0.25	.	14.1131	0.65134	0.0:0.0:1.0:0.0	.	14;14	B5A969;P54762	.;EPHB1_HUMAN	T	14	ENSP00000381097:A14T	ENSP00000381097:A14T	A	+	1	0	EPHB1	135997203	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.577000	0.60922	2.046000	0.60703	0.561000	0.74099	GCA		0.687	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	0	NM_004441		3:134514513
TTLL1	25809	broad.mit.edu	37	22	43459909	43459909	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:43459909G>A	ENST00000266254.7	-	7	897	c.657C>T	c.(655-657)tgC>tgT	p.C219C	TTLL1_ENST00000331018.7_Silent_p.C219C	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	219	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGCAGAACCGGCAAAACCCAA	0.458																																						ENST00000331018.7		NA																	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(655-657)tgC>tgT		tubulin tyrosine ligase-like family, member 1							197.0	185.0	189.0					22																	43459909		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43459909G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.657C>T	22.37:g.43459909G>A		False	False		Somatic	0				TTLL1_ENST00000266254.7_Silent_p.C219C	p.C219C			WXS	Illumina HiSeq	Phase_I	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	7	897	-		Ovarian(80;0.0694)	219			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.657C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	9.861	1.196399	0.22037	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.98	1.04	0.20106	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	.	4.5385	0.12045	0.3534:0.0:0.4944:0.1523	.	.	.	.	V	145	.	.	A	-	2	0	TTLL1	41789853	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	2.311000	0.43717	0.359000	0.24239	0.591000	0.81541	GCC		0.458	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	0	NM_012263		22:43459909
FAM135B	51059	broad.mit.edu	37	8	139165382	139165382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:139165382C>T	ENST00000395297.1	-	13	1506	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	446										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACAGTTATCTTCCTTGTCT	0.328										HNSCC(54;0.14)																												ENST00000395297.1		NA																	0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1336-1338)Gat>Aat		family with sequence similarity 135, member B							58.0	56.0	57.0					8																	139165382		1853	4090	5943	SO:0001583	missense	51059							g.chr8:139165382C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1336G>A	8.37:g.139165382C>T	ENSP00000378710:p.Asp446Asn	False	False	HNSCC(54;0.14)	Somatic	0					p.D446N	NM_015912.3	NP_056996.2	WXS	Illumina HiSeq	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1506	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		446					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1336G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	2.542	-0.306135	0.05458	.	.	ENSG00000147724	ENST00000395297	T	0.13778	2.56	5.6	3.44	0.39384	.	2.006110	0.01697	N	0.026948	T	0.10895	0.0266	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.257;0.157;0.094	B;B;B	0.26864	0.074;0.051;0.023	T	0.28427	-1.0044	10	0.17369	T	0.5	-5.0172	10.0861	0.42419	0.0:0.8112:0.0:0.1888	.	446;446;446	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	446	ENSP00000378710:D446N	ENSP00000276737:D446N	D	-	1	0	FAM135B	139234564	0.831000	0.29352	0.867000	0.34043	0.006000	0.05464	2.266000	0.43320	1.348000	0.45733	0.655000	0.94253	GAT		0.328	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	NM_015912		8:139165382
YTHDF1	54915	broad.mit.edu	37	20	61834082	61834082	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:61834082G>A	ENST00000370339.3	-	4	1551	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	404	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTAATGGAGCGGTGGATGTCG	0.552																																						ENST00000370339.3		NA																	0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1210-1212)Cgc>Tgc		YTH domain family, member 1							97.0	85.0	89.0					20																	61834082		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61834082G>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1210C>T	20.37:g.61834082G>A	ENSP00000359364:p.Arg404Cys	False	False		Somatic	0				YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C	p.R404C	NM_017798.3	NP_060268.2	WXS	Illumina HiSeq	Phase_I	Q9BYJ9	YTHD1_HUMAN			4	1551	-			404			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1210C>T	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105768	0.77096	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.31769	1.48;1.48	4.72	4.72	0.59763	YTH domain (2);	0.047653	0.85682	N	0.000000	T	0.64438	0.2598	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74179	-0.3749	10	0.87932	D	0	-12.6731	18.0486	0.89341	0.0:0.0:1.0:0.0	.	404	Q9BYJ9	YTHD1_HUMAN	C	404;354	ENSP00000359364:R404C;ENSP00000359358:R354C	ENSP00000359358:R354C	R	-	1	0	YTHDF1	61304527	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	9.669000	0.98622	2.339000	0.79563	0.591000	0.81541	CGC		0.552	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	0	NM_017798		20:61834082
MACF1	23499	broad.mit.edu	37	1	39833893	39833893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:39833893C>T	ENST00000372915.3	+	49	12947	c.12860C>T	c.(12859-12861)tCt>tTt	p.S4287F	MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000564288.1_Missense_Mutation_p.S4282F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4287					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)			GAACTGAGCTCTTGTGGCTTT	0.448																																						ENST00000564288.1		NA																	0				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.(12844-12846)tCt>tTt		microtubule-actin crosslinking factor 1							121.0	115.0	117.0					1																	39833893		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.chr1:39833893C>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.12860C>T	1.37:g.39833893C>T	ENSP00000362006:p.Ser4287Phe	False	False		Somatic	0				MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000372915.3_Missense_Mutation_p.S4287F	p.S4282F			WXS	Illumina HiSeq	Phase_I	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)		50	13622	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4287					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12845C>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.340087	0.81911	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.65178	-0.11;1.23;-0.11;-0.14;0.03;1.0	5.85	3.83	0.44106	.	0.499782	0.18532	N	0.138463	T	0.72993	0.3530	L	0.53249	1.67	0.80722	D	1	D;B;P;B	0.76494	0.999;0.089;0.942;0.033	D;B;P;B	0.72982	0.979;0.052;0.708;0.03	T	0.73418	-0.3989	10	0.52906	T	0.07	.	12.4341	0.55590	0.1331:0.7388:0.1281:0.0	.	4287;2220;2220;2185	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	F	2220;4287;2220;2220;2220;2722	ENSP00000439537:S2220F;ENSP00000362006:S4287F;ENSP00000354573:S2220F;ENSP00000313438:S2220F;ENSP00000444364:S2220F;ENSP00000289893:S2722F	ENSP00000289893:S2722F	S	+	2	0	MACF1	39606480	0.979000	0.34478	0.995000	0.50966	0.977000	0.68977	1.987000	0.40687	1.418000	0.47098	0.467000	0.42956	TCT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39833893
NSD1	64324	broad.mit.edu	37	5	176562809	176562809	+	Silent	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176562809A>G	ENST00000439151.2	+	2	750	c.705A>G	c.(703-705)acA>acG	p.T235T	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Silent_p.T235T|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	235					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGACTGAAACACAGAAAAATA	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(703-705)acA>acG		nuclear receptor binding SET domain protein 1							87.0	85.0	86.0					5																	176562809		2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562809A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.705A>G	5.37:g.176562809A>G		False	False	HNSCC(47;0.14)	Somatic	0				NSD1_ENST00000361032.4_Silent_p.T235T|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron	p.T235T	NM_022455.4	NP_071900.2	WXS	Illumina HiSeq	Phase_I	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	750	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	235					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.705A>G	CCDS4412.1																																																																																				0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	NM_172349		5:176562809
KIAA0430	9665	broad.mit.edu	37	16	15729930	15729930	+	Silent	SNP	C	C	T	rs369662480		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:15729930C>T	ENST00000396368.3	-	3	620	c.414G>A	c.(412-414)tcG>tcA	p.S138S	KIAA0430_ENST00000540441.2_Silent_p.S138S|KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Silent_p.S138S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	138					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGTGCTTTGCGAGTCTAACA	0.547																																						ENST00000396368.3		NA																	0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(412-414)tcG>tcA		KIAA0430		C	,,	1,4165		0,1,2082	170.0	170.0	170.0		414,414,414	-6.8	0.8	16		170	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA0430	NM_001184998.1,NM_001184999.1,NM_014647.3	,,	0,1,6293	TT,TC,CC		0.0,0.024,0.0079	,,	138/1743,138/1740,138/1743	15729930	1,12587	2083	4211	6294	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729930C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.414G>A	16.37:g.15729930C>T		False	False		Somatic	0				KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000540441.2_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Silent_p.S138S	p.S138S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	WXS	Illumina HiSeq	Phase_I	Q9Y4F3	LKAP_HUMAN			3	620	-			137					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.414G>A	CCDS10562.2																																																																																				0.547	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	0	NM_014647		16:15729930
GCN1L1	10985	broad.mit.edu	37	12	120602186	120602186	+	Missense_Mutation	SNP	G	G	A	rs375873694		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:120602186G>A	ENST00000300648.6	-	18	1814	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	601					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGTCCGTGCGCCAGCTTAAA	0.612																																						ENST00000300648.6		NA																	0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1801-1803)gCg>gTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		G	VAL/ALA	0,3930		0,0,1965	87.0	91.0	90.0		1802	5.8	1.0	12		90	1,8319		0,1,4159	no	missense	GCN1L1	NM_006836.1	64	0,1,6124	AA,AG,GG		0.012,0.0,0.0082	benign	601/2672	120602186	1,12249	1965	4160	6125	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602186G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1802C>T	12.37:g.120602186G>A	ENSP00000300648:p.Ala601Val	False	False		Somatic	0					p.A601V	NM_006836.1	NP_006827	WXS	Illumina HiSeq	Phase_I	Q92616	GCN1L_HUMAN			18	1814	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		601					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1802C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713573	0.68730	0.0	1.2E-4	ENSG00000089154	ENST00000300648	T	0.04654	3.58	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.052807	0.85682	D	0.000000	T	0.05640	0.0148	L	0.49455	1.56	0.80722	D	1	B	0.29766	0.256	B	0.25291	0.059	T	0.39187	-0.9626	10	0.12103	T	0.63	.	13.3273	0.60467	0.0717:0.0:0.9283:0.0	.	601	Q92616	GCN1L_HUMAN	V	601	ENSP00000300648:A601V	ENSP00000300648:A601V	A	-	2	0	GCN1L1	119086569	1.000000	0.71417	0.965000	0.40720	0.937000	0.57800	7.375000	0.79646	2.769000	0.95229	0.655000	0.94253	GCG		0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1	0			12:120602186
SPRED1	161742	broad.mit.edu	37	15	38643373	38643373	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:38643373G>C	ENST00000299084.4	+	7	1703	c.843G>C	c.(841-843)caG>caC	p.Q281H		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	281	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCAGTATTCAGTTTTCTAAAC	0.398									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4		NA																	0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(841-843)caG>caC		sprouty-related, EVH1 domain containing 1							82.0	82.0	82.0					15																	38643373		2200	4297	6497	SO:0001583	missense	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38643373G>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.843G>C	15.37:g.38643373G>C	ENSP00000299084:p.Gln281His	True	False		Somatic	0					p.Q281H	NM_152594.2	NP_689807.1	WXS	Illumina HiSeq	Phase_I	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1703	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	281			KBD.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.843G>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801388	0.02841	.	.	ENSG00000166068	ENST00000299084	D	0.84298	-1.83	5.97	-0.439	0.12264	c-Kit-binding domain (1);	0.734032	0.14484	N	0.316776	T	0.69205	0.3085	N	0.14661	0.345	0.21325	N	0.999728	B	0.02656	0.0	B	0.01281	0.0	T	0.52358	-0.8586	10	0.24483	T	0.36	-18.8552	9.1329	0.36857	0.2898:0.2295:0.4807:0.0	.	281	Q7Z699	SPRE1_HUMAN	H	281	ENSP00000299084:Q281H	ENSP00000299084:Q281H	Q	+	3	2	SPRED1	36430665	0.847000	0.29606	0.971000	0.41717	0.969000	0.65631	0.024000	0.13555	-0.315000	0.08703	-0.153000	0.13522	CAG		0.398	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1	0			15:38643373
KLK11	11012	broad.mit.edu	37	19	51527499	51527499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:51527499C>T	ENST00000594768.1	-	4	546	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T|KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GACTCAGTGGCTGTCCGGGTC	0.582																																						ENST00000594768.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(361-363)Gcc>Acc		kallikrein-related peptidase 11							105.0	98.0	101.0					19																	51527499		2203	4300	6503	SO:0001583	missense	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51527499C>T	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.361G>A	19.37:g.51527499C>T	ENSP00000473047:p.Ala121Thr	False	False		Somatic	0				KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.A114T	p.A121T	NM_144947.1	NP_659196.1	WXS	Illumina HiSeq	Phase_I	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	4	546	-		all_neural(266;0.026)	121			Peptidase S1.		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	c.361G>A	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	c	13.83	2.354005	0.41700	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.92965	-3.14;-3.14;-3.14	4.32	3.25	0.37280	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37906	U	0.001893	D	0.86531	0.5955	L	0.37897	1.145	0.30572	N	0.763413	B;B	0.29341	0.242;0.242	B;B	0.32393	0.145;0.145	D	0.83710	0.0187	10	0.72032	D	0.01	.	7.0907	0.25282	0.1979:0.6103:0.1918:0.0	.	121;114	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	T	114;89;89;121	ENSP00000375680:A114T;ENSP00000324269:A89T;ENSP00000413958:A89T	ENSP00000324269:A89T	A	-	1	0	KLK11	56219311	0.152000	0.22762	0.709000	0.30452	0.782000	0.44232	0.785000	0.26830	0.977000	0.38444	0.462000	0.41574	GCC		0.582	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	0	NM_006853		19:51527499
DNAH11	8701	broad.mit.edu	37	7	21882220	21882220	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:21882220C>G	ENST00000409508.3	+	66	10781	c.10750C>G	c.(10750-10752)Cac>Gac	p.H3584D	DNAH11_ENST00000328843.6_Missense_Mutation_p.H3591D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3591	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCTTATCCTTCACACAAAATT	0.413									Kartagener syndrome																													ENST00000328843.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10771-10773)Cac>Gac		dynein, axonemal, heavy chain 11							109.0	103.0	105.0					7																	21882220		1890	4113	6003	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21882220C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10750C>G	7.37:g.21882220C>G	ENSP00000475939:p.His3584Asp	True	False		Somatic	0				DNAH11_ENST00000409508.3_Missense_Mutation_p.H3584D	p.H3591D			WXS	Illumina HiSeq	Phase_I	Q96DT5	DYH11_HUMAN			67	10802	+			3591			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10771C>G		.	.	.	.	.	.	.	.	.	.	C	17.85	3.490687	0.64074	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53634	-0.8411	9	0.52906	T	0.07	.	17.8716	0.88813	0.0:1.0:0.0:0.0	.	3591	Q96DT5	DYH11_HUMAN	D	3591	ENSP00000330671:H3591D	ENSP00000330671:H3591D	H	+	1	0	DNAH11	21848745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.514000	0.84764	0.655000	0.94253	CAC		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	NM_003777		7:21882220
SMARCA4	6597	broad.mit.edu	37	19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:11143994G>A	ENST00000429416.3	+	27	3856	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2		NA		Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3574-3576)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							63.0	62.0	62.0					19																	11143994		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143994G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3575G>A	19.37:g.11143994G>A	ENSP00000395654:p.Arg1192His	False	False		Somatic	0				SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H	p.R1192H	NM_001128849.1	NP_001122321.1	WXS	Illumina HiSeq	Phase_I	P51532	SMCA4_HUMAN			26	3859	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1192			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3575G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769759	0.90020	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.99863	4.86	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	-34.1151	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1192;1192;1192;1192;1192;412;1192	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1192;1192;1256;1192;1192;1192;1192;1192	ENSP00000395654:R1192H;ENSP00000350720:R1192H;ENSP00000343896:R1192H;ENSP00000445036:R1192H;ENSP00000392837:R1192H;ENSP00000397783:R1192H;ENSP00000414727:R1192H	ENSP00000343896:R1192H	R	+	2	0	SMARCA4	11004994	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	CGC		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	0	NM_003072		19:11143994
ARHGAP17	55114	broad.mit.edu	37	16	24942323	24942323	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:24942323A>G	ENST00000289968.6	-	19	2366	c.2297T>C	c.(2296-2298)cTa>cCa	p.L766P	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	766	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGTTTTCCTAGGGGCGGAGT	0.617																																						ENST00000289968.6		NA																	0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2296-2298)cTa>cCa		Rho GTPase activating protein 17							70.0	85.0	80.0					16																	24942323		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942323A>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2297T>C	16.37:g.24942323A>G	ENSP00000289968:p.Leu766Pro	True	False		Somatic	0				ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P	p.L766P	NM_001006634.1	NP_001006635.1	WXS	Illumina HiSeq	Phase_I	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2366	-			766			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.2297T>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466931	0.26335	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.20738	2.05;2.08	5.39	4.27	0.50696	.	0.234011	0.21868	N	0.067922	T	0.34454	0.0898	L	0.41356	1.27	0.31123	N	0.708582	B;B;D;B;B	0.89917	0.004;0.003;1.0;0.137;0.215	B;B;D;B;B	0.91635	0.011;0.005;0.999;0.066;0.139	T	0.28138	-1.0053	10	0.54805	T	0.06	.	9.6939	0.40145	0.9158:0.0:0.0842:0.0	.	688;766;299;599;327	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	P	766;688;766	ENSP00000289968:L766P;ENSP00000303130:L688P	ENSP00000289968:L766P	L	-	2	0	ARHGAP17	24849824	0.862000	0.29867	0.018000	0.16275	0.069000	0.16628	3.540000	0.53611	0.829000	0.34733	0.454000	0.30748	CTA		0.617	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	0	NM_018054		16:24942323
SLC5A3	6526	broad.mit.edu	37	21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	402					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCAAGAGCGCAAGCTCCCG	0.478																																						ENST00000608209.1		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Gca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							89.0	81.0	84.0					21																	35468701		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468701G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1204G>A	21.37:g.35468701G>A	ENSP00000370543:p.Ala402Thr	False	False		Somatic	0				AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.A402T	p.A402T	NM_006933.4	NP_008864.3	WXS	Illumina HiSeq	Phase_I	P53794	SC5A3_HUMAN			2	1716	+			NA					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1204G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	0			21:35468701
LINGO1	84894	broad.mit.edu	37	15	77907604	77907604	+	Silent	SNP	G	G	A	rs373064406		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGATGAGGCCGTGCAGGTGGG	0.607																																						ENST00000355300.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(643-645)caC>caT		leucine rich repeat and Ig domain containing 1		G		0,4354		0,0,2177	108.0	117.0	114.0		645	3.6	1.0	15		114	1,8549		0,1,4274	no	coding-synonymous	LINGO1	NM_032808.5		0,1,6451	AA,AG,GG		0.0117,0.0,0.0077		215/621	77907604	1,12903	2177	4275	6452	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907604G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.645C>T	15.37:g.77907604G>A		False	False		Somatic	0				LINGO1_ENST00000561030.1_Silent_p.H209H	p.H215H	NM_032808.5	NP_116197.4	WXS	Illumina HiSeq	Phase_I	Q96FE5	LIGO1_HUMAN			2	819	-			215					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.645C>T	CCDS45313.1																																																																																				0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	0	NM_032808		15:77907604
BMS1P20	96610	broad.mit.edu	37	22	22664603	22664603	+	RNA	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:22664603T>C	ENST00000426066.1	+	0	784					NR_027293.1				BMS1 pseudogene 20																		ATTGTCTTCATGCAAACTTGG	0.388																																						ENST00000426066.1		NA																	0					NA																																														0							g.chr22:22664603T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664603T>C		False	False		Somatic	0						NR_027293.1		WXS	Illumina HiSeq	Phase_I					0	784	+			NA						RNA	SNP	ENST00000426066.1	37																																																																																						0.388	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1	0			22:22664603
ARHGAP10	79658	broad.mit.edu	37	4	148944528	148944528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:148944528G>A	ENST00000336498.3	+	19	2070	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAAGAGGCCCGTGGCCGTCTA	0.502																																						ENST00000336498.3		NA																	0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1831-1833)Gtg>Atg		Rho GTPase activating protein 10							96.0	99.0	98.0					4																	148944528		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148944528G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1831G>A	4.37:g.148944528G>A	ENSP00000336923:p.Val611Met	True	False		Somatic	0				ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	p.V611M	NM_024605.3	NP_078881.3	WXS	Illumina HiSeq	Phase_I	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	19	2070	+	all_hematologic(180;0.151)	Renal(17;0.0166)	611					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1831G>A	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.755723|2.755723	0.49362|0.49362	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.11930	.|3.04;2.73	5.72|5.72	3.96|3.96	0.45880|0.45880	.|.	.|0.543718	.|0.18919	.|N	.|0.127533	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.40543|0.40543	1.245|1.245	0.36518|0.36518	D|D	0.869994|0.869994	.|D;D;D;D	.|0.89917	.|1.0;0.983;0.993;0.987	.|D;P;P;P	.|0.85130	.|0.997;0.507;0.475;0.475	T|T	0.07385|0.07385	-1.0775|-1.0775	5|10	.|0.46703	.|T	.|0.11	.|.	9.5873|9.5873	0.39524|0.39524	0.0749:0.2861:0.639:0.0|0.0749:0.2861:0.639:0.0	.|.	.|44;192;260;611	.|Q9H7G7;Q86T21;E7EUW5;A1A4S6	.|.;.;.;RHG10_HUMAN	H|M	288|611;260	.|ENSP00000336923:V611M;ENSP00000406624:V260M	.|ENSP00000336923:V611M	R|V	+|+	2|1	0|0	ARHGAP10|ARHGAP10	149163978|149163978	0.951000|0.951000	0.32395|0.32395	0.938000|0.938000	0.37757|0.37757	0.989000|0.989000	0.77384|0.77384	1.511000|1.511000	0.35801|0.35801	0.732000|0.732000	0.32470|0.32470	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.502	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	0	NM_024605		4:148944528
PRDM7	11105	broad.mit.edu	37	16	90161014	90161014	+	5'Flank	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:90161014G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGGGCCCTTCGGGCAGGTCTT	0.667																																						ENST00000564451.1		NA																	0					NA																																												SO:0001631	upstream_gene_variant	0							g.chr16:90161014G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161014G>A	Exception_encountered	True	False		Somatic	0				TUBB8P7_ENST00000567960.1_RNA				WXS	Illumina HiSeq	Phase_I					0	894	+			NA					A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.667	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1	0			16:90161014
OR10C1	442194	broad.mit.edu	37	6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGTCTGTCACGGTCCCCCTG	0.577																																						ENST00000444197.2		NA																	0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(226-228)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							161.0	143.0	150.0					6																	29408019		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408019C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.227C>T	6.37:g.29408019C>T	ENSP00000419119:p.Thr76Met	False	False		Somatic	0				OR11A1_ENST00000377149.1_Intron	p.T76M	NM_013941.3	NP_039229.3	WXS	Illumina HiSeq	Phase_I	Q96KK4	O10C1_HUMAN			1	937	+			76					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.227C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728727	0.15507	.	.	ENSG00000206474	ENST00000444197	T	0.00882	5.58	3.32	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001132	T	0.01940	0.0061	M	0.88570	2.965	0.09310	N	0.999996	D	0.69078	0.997	P	0.61722	0.893	T	0.38090	-0.9677	10	0.52906	T	0.07	.	6.6195	0.22796	0.0:0.8667:0.0:0.1333	.	76	Q96KK4	O10C1_HUMAN	M	76	ENSP00000419119:T76M	ENSP00000419119:T76M	T	+	2	0	OR10C1	29515998	0.000000	0.05858	0.287000	0.24848	0.043000	0.13939	-0.103000	0.10940	1.858000	0.53909	0.196000	0.17591	ACG		0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	0			6:29408019
TMPRSS11F	389208	broad.mit.edu	37	4	68995528	68995528	+	Splice_Site	SNP	G	G	A	rs142296401	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:68995528G>A	ENST00000356291.2	-	1	70	c.11C>T	c.(10-12)gCa>gTa	p.A4V		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	4			A -> T (in dbSNP:rs10030708).			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATACTTACGCGTACATCAT	0.448																																						ENST00000356291.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(10-12)gCa>gTa		transmembrane protease, serine 11F		G	VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	129.0	111.0	117.0		11	3.5	0.9	4	dbSNP_134	117	0,8600		0,0,4300	yes	missense-near-splice	TMPRSS11F	NM_207407.2	64	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	4/439	68995528	7,12999	2203	4300	6503	SO:0001630	splice_region_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68995528G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.11+1C>T	4.37:g.68995528G>A		False	False		Somatic	0					p.A4V	NM_207407.2	NP_997290.2	WXS	Illumina HiSeq	Phase_I	Q6ZWK6	TM11F_HUMAN			1	70	-			4		A -> T (in dbSNP:rs10030708).			A8MXX2	Splice_Site	SNP	ENST00000356291.2	37	c.11C>T	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759073	0.31137	0.001589	0.0	ENSG00000198092	ENST00000356291	D	0.88509	-2.39	5.24	3.48	0.39840	.	1.880980	0.02227	N	0.064593	T	0.78748	0.4332	N	0.08118	0	0.34127	D	0.6648	P	0.48089	0.905	B	0.35770	0.21	T	0.70174	-0.4944	9	.	.	.	.	11.8719	0.52525	0.0:0.3399:0.6601:0.0	.	4	Q6ZWK6	TM11F_HUMAN	V	4	ENSP00000348639:A4V	.	A	-	2	0	TMPRSS11F	68678123	0.951000	0.32395	0.948000	0.38648	0.344000	0.29017	0.715000	0.25822	0.756000	0.33013	0.650000	0.86243	GCA		0.448	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	0	NM_207407	Missense_Mutation	4:68995528
WNT3A	89780	broad.mit.edu	37	1	228210456	228210456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:228210456C>T	ENST00000284523.1	+	2	238	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	54					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAAGCAGCTCCGCTTCTGCAG	0.652																																						ENST00000284523.1		NA																	0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(160-162)Cgc>Tgc		wingless-type MMTV integration site family, member 3A							53.0	51.0	52.0					1																	228210456		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210456C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.160C>T	1.37:g.228210456C>T	ENSP00000284523:p.Arg54Cys	False	False		Somatic	0				WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	p.R54C	NM_033131.3	NP_149122.1	WXS	Illumina HiSeq	Phase_I	P56704	WNT3A_HUMAN			2	238	+		Prostate(94;0.0405)	54					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.160C>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803864	0.90623	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77489	-1.1;-1.1	4.47	4.47	0.54385	.	0.068061	0.64402	D	0.000010	D	0.90573	0.7045	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	D	0.93130	0.6532	10	0.87932	D	0	.	16.9039	0.86120	0.0:1.0:0.0:0.0	.	54;54	P56704;Q3SY79	WNT3A_HUMAN;.	C	54	ENSP00000284523:R54C;ENSP00000355715:R54C	ENSP00000284523:R54C	R	+	1	0	WNT3A	226277079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.534000	0.82004	2.311000	0.77944	0.586000	0.80456	CGC		0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	0	NM_033131		1:228210456
ANTXR1	84168	broad.mit.edu	37	2	69409729	69409729	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:69409729G>A	ENST00000303714.4	+	16	1612	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	430					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCCTGAGCCGCGAAATCTCA	0.473									Familial Infantile Hemangioma																													ENST00000303714.4		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1288-1290)ccG>ccA		anthrax toxin receptor 1							135.0	129.0	131.0					2																	69409729		2203	4300	6503	SO:0001819	synonymous_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409729G>A	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1290G>A	2.37:g.69409729G>A		False	False		Somatic	0					p.P430P	NM_032208.2	NP_115584.1	WXS	Illumina HiSeq	Phase_I	Q9H6X2	ANTR1_HUMAN			16	1612	+			430					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	c.1290G>A	CCDS1892.1																																																																																				0.473	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	0	NM_032208		2:69409729
CCDC28A	25901	broad.mit.edu	37	6	139095001	139095001	+	Missense_Mutation	SNP	C	C	T	rs200225836	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:139095001C>T	ENST00000332797.6	+	1	345	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	64										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CGGGTCTTTGCGGGTTGCGGA	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		13588	0.001		0.0	False		,,,				2504	0.001					ENST00000332797.6		NA																	0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(190-192)Cgg>Tgg		coiled-coil domain containing 28A							68.0	85.0	79.0					6																	139095001		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139095001C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.190C>T	6.37:g.139095001C>T	ENSP00000332716:p.Arg64Trp	True	False		Somatic	0					p.R64W	NM_015439.2	NP_056254.1	WXS	Illumina HiSeq	Phase_I	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	345	+			64					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.190C>T	CCDS5192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.28	2.487247	0.44249	.	.	ENSG00000024862	ENST00000332797	T	0.25579	1.79	4.93	3.15	0.36227	.	1.391920	0.05417	N	0.543593	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.08310	-1.0728	10	0.72032	D	0.01	-2.5804	7.0938	0.25299	0.0:0.8032:0.0:0.1968	.	64	Q8IWP9	CC28A_HUMAN	W	64	ENSP00000332716:R64W	ENSP00000332716:R64W	R	+	1	2	CCDC28A	139136694	0.000000	0.05858	0.006000	0.13384	0.596000	0.36781	0.095000	0.15127	1.450000	0.47717	-0.215000	0.12644	CGG		0.617	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	0	NM_015439		6:139095001
MKL1	57591	broad.mit.edu	37	22	40807886	40807886	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:40807886C>T	ENST00000355630.3	-	15	2894	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P	MKL1_ENST00000407029.1_Silent_p.P768P|MKL1_ENST00000396617.3_Missense_Mutation_p.A772T|MKL1_ENST00000402042.1_Silent_p.P718P	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	768	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCAGGGATGGCGGCTCCTTGA	0.532			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2314-2316)Gcc>Acc		megakaryoblastic leukemia (translocation) 1							97.0	107.0	103.0					22																	40807886		2157	4183	6340	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40807886C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2304G>A	22.37:g.40807886C>T		False	False		Somatic	0				MKL1_ENST00000355630.3_Silent_p.P768P|MKL1_ENST00000402042.1_Silent_p.P718P|MKL1_ENST00000407029.1_Silent_p.P768P	p.A772T	NM_001282662.1	NP_001269591.1	WXS	Illumina HiSeq	Phase_I	Q969V6	MKL1_HUMAN			15	2904	-			770			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2314G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235131	0.39498	.	.	ENSG00000196588	ENST00000396617	T	0.46451	0.87	4.92	-7.52	0.01341	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	8	0.54805	T	0.06	-2.7668	1.9139	0.03293	0.1882:0.3859:0.1944:0.2315	.	772	E7ER32	.	T	772	ENSP00000379861:A772T	ENSP00000379861:A772T	A	-	1	0	MKL1	39137832	0.000000	0.05858	0.090000	0.20809	0.761000	0.43186	-0.214000	0.09292	-0.755000	0.04709	-1.744000	0.00683	GCC		0.532	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	0	NM_020831		22:40807886
PLIN4	729359	broad.mit.edu	37	19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	rs570898926		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		39657	0.0		0.0	False		,,,				2504	0.001					ENST00000301286.3		NA																	0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2071-2073)Atg>Gtg		perilipin 4							243.0	261.0	255.0					19																	4511859		2151	4245	6396	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511859T>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2071A>G	19.37:g.4511859T>C	ENSP00000301286:p.Met691Val	False	False		Somatic	0					p.M691V	NM_001080400.1	NP_001073869.1	WXS	Illumina HiSeq	Phase_I	Q96Q06	PLIN4_HUMAN			3	2070	-			691			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2071A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670420	0.29693	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	5.31	5.31	0.75309	.	1.216040	0.06290	N	0.699098	T	0.04182	0.0116	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.41858	-0.9485	10	0.30854	T	0.27	-0.8619	9.4897	0.38951	0.1579:0.0:0.0:0.8421	.	691	Q96Q06	PLIN4_HUMAN	V	691	ENSP00000301286:M691V	ENSP00000301286:M691V	M	-	1	0	PLIN4	4462859	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	0.103000	0.15292	2.008000	0.58898	0.386000	0.25728	ATG		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	XM_170901		19:4511859
SH3PXD2A	9644	broad.mit.edu	37	10	105362124	105362124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:105362124A>G	ENST00000369774.4	-	15	3127	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	951					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAGGTTTGGAGGGGATGGGG	0.622																																						ENST00000369774.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2851-2853)Tcc>Ccc		SH3 and PX domains 2A							74.0	69.0	71.0					10																	105362124		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362124A>G	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2851T>C	10.37:g.105362124A>G	ENSP00000358789:p.Ser951Pro	True	False		Somatic	0				SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P	p.S951P			WXS	Illumina HiSeq	Phase_I	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3127	-		Colorectal(252;0.0815)|Breast(234;0.131)	951					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2851T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.20|14.20	2.463860|2.463860	0.43736|0.43736	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.61510	.|0.19;0.12;0.3;0.1	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.174508	.|0.52532	.|D	.|0.000077	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.59436|0.59436	1.845|1.845	0.53005|0.53005	D|D	0.999963|0.999963	.|P;P;P;P	.|0.47253	.|0.828;0.828;0.859;0.892	.|B;B;P;B	.|0.46026	.|0.237;0.42;0.501;0.319	T|T	0.54622|0.54622	-0.8266|-0.8266	5|10	.|0.30078	.|T	.|0.28	-14.3613|-14.3613	9.8768|9.8768	0.41209|0.41209	0.8072:0.0:0.0:0.1928|0.8072:0.0:0.0:0.1928	.|.	.|951;800;796;923	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	P|P	877|951;923;758;866;818;786	.|ENSP00000358789:S951P;ENSP00000348215:S923P;ENSP00000443663:S818P;ENSP00000441514:S786P	.|ENSP00000318135:S758P	L|S	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352114|105352114	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.444000|0.444000	0.32077|0.32077	5.893000|5.893000	0.69798|0.69798	1.892000|1.892000	0.54788|0.54788	0.454000|0.454000	0.30748|0.30748	CTC|TCC		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	0	NM_014631		10:105362124
SOGA3	387104	broad.mit.edu	37	6	127796643	127796643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:127796643G>A	ENST00000525778.1	-	6	3273	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	SOGA3_ENST00000556132.1_Missense_Mutation_p.A843V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.A843V			Q5TF21	SOGA3_HUMAN	SOGA family member 3	843					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A843V(1)									GTAGATGCGCGCCTCGGTGAT	0.652																																						ENST00000556132.1		NA																	1	Substitution - Missense(1)	p.A843V(1)	large_intestine(1)		NA						c.(2527-2529)gCg>gTg		SOGA family member 3							89.0	102.0	97.0					6																	127796643		2186	4281	6467	SO:0001583	missense	387104					integral to membrane		g.chr6:127796643G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2528C>T	6.37:g.127796643G>A	ENSP00000434570:p.Ala843Val	True	False		Somatic	0				SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.A843V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A843V	p.A843V	NM_001012279.2	NP_001012279.1	WXS	Illumina HiSeq	Phase_I	Q5TF21	CF174_HUMAN			6	3392	-			843						Missense_Mutation	SNP	ENST00000525778.1	37	c.2528C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686804	0.88639	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	L	0.56769	1.78	0.80722	D	1	P	0.44006	0.824	B	0.38296	0.27	T	0.03706	-1.1011	10	0.42905	T	0.14	-14.9161	14.5446	0.68020	0.0701:0.0:0.9299:0.0	.	843	Q5TF21	CF174_HUMAN	V	843	ENSP00000451768:A843V;ENSP00000357251:A843V;ENSP00000434570:A843V;ENSP00000435559:A843V	ENSP00000435559:A843V	A	-	2	0	C6orf174	127838336	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	1.419000	0.47118	0.462000	0.41574	GCG		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	0	NM_001012279		6:127796643
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	rs552036402		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0					ENST00000609686.1		NA																	0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2710-2712)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						155.0	142.0	146.0					12																	13717461		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717461G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met	False	False		Somatic	0					p.T904M	NM_000834.3	NP_000825.2	WXS	Illumina HiSeq	Phase_I	Q13224	NMDE2_HUMAN			13	2920	-			NA					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2711C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	0			12:13717461
LAMB3	3914	broad.mit.edu	37	1	209800758	209800758	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:209800758C>T	ENST00000356082.4	-	12	1589	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	LAMB3_ENST00000391911.1_Silent_p.P485P|LAMB3_ENST00000367030.3_Silent_p.P485P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	485	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGAGTTGTGCGGGTCGCAGG	0.647											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391911.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1453-1455)ccG>ccA		laminin, beta 3							56.0	47.0	50.0					1																	209800758		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209800758C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1455G>A	1.37:g.209800758C>T		True	False		Somatic	0	OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2185	LAMB3_ENST00000356082.4_Silent_p.P485P|LAMB3_ENST00000367030.3_Silent_p.P485P	p.P485P	NM_001017402.1	NP_001017402.1	WXS	Illumina HiSeq	Phase_I	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	11	1844	-			485			Laminin EGF-like 5.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.1455G>A	CCDS1487.1																																																																																				0.647	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	0	NM_000228		1:209800758
DACH2	117154	broad.mit.edu	37	X	85969723	85969723	+	Splice_Site	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:85969723G>T	ENST00000373125.4	+	6	1104	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	DACH2_ENST00000510272.1_Splice_Site_p.K149N|DACH2_ENST00000508860.1_Splice_Site_p.K201N|DACH2_ENST00000373131.1_Splice_Site_p.K355N	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	368					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGTTATAAAGGTAAGAATCG	0.393																																						ENST00000373131.1		NA																	0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1063-1065)aaG>aaT		dachshund homolog 2 (Drosophila)							68.0	59.0	62.0					X																	85969723		2203	4300	6503	SO:0001630	splice_region_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969723G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1104+1G>T	X.37:g.85969723G>T		True	False		Somatic	0				DACH2_ENST00000510272.1_Splice_Site_p.K149N|DACH2_ENST00000508860.1_Splice_Site_p.K201N|DACH2_ENST00000373125.4_Splice_Site_p.K368N	p.K355N	NM_001139514.1	NP_001132986.1	WXS	Illumina HiSeq	Phase_I	Q96NX9	DACH2_HUMAN			5	1228	+			368					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Splice_Site	SNP	ENST00000373125.4	37	c.1065G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984771	0.74474	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.85556	-2.0;-2.0	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	D	0.90841	0.7123	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.998;0.993	P;P;D;D	0.71184	0.893;0.883;0.972;0.909	D	0.91059	0.4884	10	0.48119	T	0.1	.	17.3486	0.87316	0.0:0.0:1.0:0.0	.	234;368;355;368	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	N	368;355;368;201;149;201;23	ENSP00000362223:K355N;ENSP00000362217:K368N	ENSP00000345134:K368N	K	+	3	2	DACH2	85856379	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.894000	0.92506	2.021000	0.59480	0.422000	0.28245	AAG		0.393	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	0	NM_053281	Missense_Mutation	X:85969723
ATP12A	479	broad.mit.edu	37	13	25262530	25262530	+	Missense_Mutation	SNP	C	C	A	rs146927457	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:25262530C>A	ENST00000381946.3	+	4	469	c.302C>A	c.(301-303)aCg>aAg	p.T101K	ATP12A_ENST00000218548.6_Missense_Mutation_p.T101K			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	101					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCAAGCAGACGCCTGAGATC	0.587																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6		NA																	0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(301-303)aCg>aAg		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						203.0	212.0	209.0					13																	25262530		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262530C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.302C>A	13.37:g.25262530C>A	ENSP00000371372:p.Thr101Lys	False	False		Somatic	0				ATP12A_ENST00000381946.3_Missense_Mutation_p.T101K	p.T101K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina HiSeq	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	635	+		Lung SC(185;0.0225)|Breast(139;0.077)	101					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.302C>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097218	0.76870	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.77489	-1.1;-1.1	5.06	5.06	0.68205	ATPase, P-type cation-transporter, N-terminal (2);	0.151867	0.45606	D	0.000357	T	0.82226	0.4991	M	0.64404	1.975	0.80722	D	1	D;D	0.55172	0.957;0.97	P;P	0.52758	0.708;0.473	D	0.83710	0.0187	10	0.56958	D	0.05	.	15.9701	0.80008	0.0:1.0:0.0:0.0	.	101;101	P54707-2;P54707	.;AT12A_HUMAN	K	101	ENSP00000218548:T101K;ENSP00000371372:T101K	ENSP00000218548:T101K	T	+	2	0	ATP12A	24160530	1.000000	0.71417	0.801000	0.32222	0.716000	0.41182	5.692000	0.68256	2.624000	0.88883	0.655000	0.94253	ACG		0.587	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	0	NM_001676		13:25262530
RP11-535M15.2	0	broad.mit.edu	37	9	99489369	99489369	+	RNA	SNP	C	C	A	rs550624055		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:99489369C>A	ENST00000602289.1	+	0	358																											TAGCAGCAACCCTTTTGACAA	0.483																																						ENST00000602289.1		NA																	0					NA																																														0							g.chr9:99489369C>A																													9.37:g.99489369C>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	358	+			NA						RNA	SNP	ENST00000602289.1	37																																																																																						0.483	RP11-535M15.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467352.1	0			9:99489369
QDPR	5860	broad.mit.edu	37	4	17488811	17488811	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:17488811G>A	ENST00000281243.5	-	7	857	c.678C>T	c.(676-678)agC>agT	p.S226S	QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000508623.1_Missense_Mutation_p.A162V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	226					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTGGATTAGGCTTCCTGAGC	0.453																																						ENST00000508623.1		NA																	0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(484-486)gCc>gTc		quinoid dihydropteridine reductase	NADH(DB00157)						161.0	141.0	148.0					4																	17488811		2203	4300	6503	SO:0001819	synonymous_variant	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17488811G>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.678C>T	4.37:g.17488811G>A		False	False		Somatic	0				QDPR_ENST00000281243.5_Silent_p.S226S|QDPR_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000513615.1_3'UTR	p.A162V			WXS	Illumina HiSeq	Phase_I	P09417	DHPR_HUMAN			5	517	-			0					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.485C>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196879	0.38806	.	.	ENSG00000151552	ENST00000508623	D	0.92699	-3.09	5.29	3.56	0.40772	.	.	.	.	.	D	0.90648	0.7067	.	.	.	0.23260	N	0.998021	.	.	.	.	.	.	D	0.84350	0.0532	6	0.87932	D	0	-26.8617	5.9529	0.19257	0.3459:0.0:0.6541:0.0	.	.	.	.	V	162	ENSP00000426377:A162V	ENSP00000426377:A162V	A	-	2	0	QDPR	17097909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.824000	0.27379	1.237000	0.43756	0.650000	0.86243	GCC		0.453	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	0	NM_000320		4:17488811
CD163	9332	broad.mit.edu	37	12	7635290	7635290	+	Missense_Mutation	SNP	C	C	A	rs139478533	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:7635290C>A	ENST00000359156.4	-	14	3398	c.3196G>T	c.(3196-3198)Gtc>Ttc	p.V1066F	CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000541972.1_Missense_Mutation_p.V1054F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.V1066I(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AATAATGCGACGAAAATGGCC	0.423																																						ENST00000359156.4		NA																	1	Substitution - Missense(1)	p.V1066I(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3196-3198)Gtc>Ttc		CD163 molecule							130.0	138.0	135.0					12																	7635290		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635290C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3196G>T	12.37:g.7635290C>A	ENSP00000352071:p.Val1066Phe	False	False		Somatic	0				CD163_ENST00000541972.1_Missense_Mutation_p.V1054F|CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F	p.V1066F	NM_004244.5	NP_004235.4	WXS	Illumina HiSeq	Phase_I	Q86VB7	C163A_HUMAN			14	3398	-			1066					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3196G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064039	0.20067	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01446	4.88;4.91;4.91;4.91	4.32	-0.639	0.11497	.	1.150940	0.06616	N	0.756554	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	P;P;P	0.37573	0.532;0.6;0.532	B;B;B	0.41860	0.185;0.368;0.185	T	0.51371	-0.8714	10	0.72032	D	0.01	.	7.6763	0.28488	0.0:0.3086:0.0:0.6914	.	1099;1066;1066	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	1066;1054;1099;1066	ENSP00000352071:V1066F;ENSP00000444071:V1054F;ENSP00000379863:V1099F;ENSP00000403885:V1066F	ENSP00000352071:V1066F	V	-	1	0	CD163	7526557	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.734000	0.04893	-0.102000	0.12197	-1.193000	0.01689	GTC		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	0	NM_004244, NM_203416		12:7635290
DCST1	149095	broad.mit.edu	37	1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537																																						ENST00000295542.1		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(793-795)cGc>cAc		DC-STAMP domain containing 1							175.0	132.0	147.0					1																	155014235		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014235G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.794G>A	1.37:g.155014235G>A	ENSP00000295542:p.Arg265His	False	False		Somatic	0				DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000423025.2_Missense_Mutation_p.R240H	p.R265H	NM_152494.3	NP_689707.2	WXS	Illumina HiSeq	Phase_I	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	890	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		265					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.794G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935876	0.34189	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.73	-6.0	0.02206	.	2.011450	0.02298	N	0.070951	T	0.11024	0.0269	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13872	-1.0493	10	0.41790	T	0.15	0.7543	13.3586	0.60642	0.386:0.0:0.614:0.0	.	240;290;265	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	H	265;265;240;265	ENSP00000295542:R265H;ENSP00000376271:R265H;ENSP00000387369:R240H;ENSP00000357404:R265H	ENSP00000295542:R265H	R	+	2	0	DCST1	153280859	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	-1.570000	0.02140	-1.129000	0.02918	-1.332000	0.01269	CGC		0.537	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	0	NM_152494		1:155014235
R3HDM4	91300	broad.mit.edu	37	19	902036	902036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:902036G>A	ENST00000361574.5	-	2	239	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	56						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										TCTGAGTTCCGCACTGCCTGG	0.667																																						ENST00000361574.5		NA																	0					NA						c.(166-168)Cgg>Tgg		R3H domain containing 4							90.0	85.0	87.0					19																	902036		2203	4300	6503	SO:0001583	missense	91300					nucleus	nucleic acid binding	g.chr19:902036G>A	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.166C>T	19.37:g.902036G>A	ENSP00000355385:p.Arg56Trp	False	False		Somatic	0				R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W	p.R56W	NM_138774.3	NP_620129.2	WXS	Illumina HiSeq	Phase_I	Q96D70	CS022_HUMAN			2	239	-			56						Missense_Mutation	SNP	ENST00000361574.5	37	c.166C>T	CCDS12048.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761642	0.49468	.	.	ENSG00000198858	ENST00000361574	.	.	.	4.66	-1.34	0.09143	.	0.000000	0.64402	U	0.000006	T	0.65091	0.2658	L	0.61218	1.895	0.51012	D	0.999903	P	0.51537	0.946	P	0.56514	0.8	T	0.70861	-0.4757	9	0.72032	D	0.01	-21.3311	14.4711	0.67517	0.0:0.0:0.5065:0.4935	.	56	Q96D70	CS022_HUMAN	W	56	.	ENSP00000355385:R56W	R	-	1	2	C19orf22	853036	1.000000	0.71417	0.932000	0.37286	0.153000	0.21895	4.107000	0.57811	0.044000	0.15775	-0.521000	0.04368	CGG		0.667	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	0	NM_138774		19:902036
TAS2R50	259296	broad.mit.edu	37	12	11138881	11138881	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:11138881T>C	ENST00000506868.1	-	1	630	c.579A>G	c.(577-579)atA>atG	p.I193M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	193					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCAGAAAAGATATCAGGGACA	0.408																																						ENST00000506868.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(577-579)atA>atG		taste receptor, type 2, member 50							131.0	120.0	124.0					12																	11138881		2203	4300	6503	SO:0001583	missense	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11138881T>C	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.579A>G	12.37:g.11138881T>C	ENSP00000424040:p.Ile193Met	False	False		Somatic	0				PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I193M	NM_176890.2	NP_795371.2	WXS	Illumina HiSeq	Phase_I	P59544	T2R50_HUMAN			1	630	-			193					P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	c.579A>G	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770932	0.31320	.	.	ENSG00000212126	ENST00000506868	T	0.41065	1.01	2.19	-2.61	0.06171	.	2.272960	0.03713	U	0.250636	T	0.47432	0.1445	M	0.80028	2.48	0.09310	N	1	P	0.38535	0.635	B	0.42361	0.385	T	0.48980	-0.8986	10	0.72032	D	0.01	.	3.8053	0.08774	0.1852:0.0:0.3371:0.4777	.	193	P59544	T2R50_HUMAN	M	193	ENSP00000424040:I193M	ENSP00000424040:I193M	I	-	3	3	TAS2R50	11030148	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-0.609000	0.05635	-0.349000	0.08274	0.260000	0.18958	ATA		0.408	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	0	NM_176890		12:11138881
PSD	5662	broad.mit.edu	37	10	104164422	104164422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:104164422G>A	ENST00000020673.5	-	15	3144	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	PSD_ENST00000406432.1_Missense_Mutation_p.A873V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	873					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAAGGGGGGCGCAGAGAACAT	0.622																																						ENST00000020673.5		NA																	0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2617-2619)gCg>gTg		pleckstrin and Sec7 domain containing							120.0	127.0	124.0					10																	104164422		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164422G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2618C>T	10.37:g.104164422G>A	ENSP00000020673:p.Ala873Val	False	False		Somatic	0				PSD_ENST00000406432.1_Missense_Mutation_p.A873V	p.A873V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	WXS	Illumina HiSeq	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	15	3144	-			873					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2618C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293816	0.95546	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.23147	1.92;1.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.97;0.97;0.991	T	0.57219	-0.7849	10	0.87932	D	0	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	873;776;494	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	V	873;776;873	ENSP00000020673:A873V;ENSP00000384830:A873V	ENSP00000020673:A873V	A	-	2	0	PSD	104154412	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	9.630000	0.98420	2.627000	0.88993	0.555000	0.69702	GCG		0.622	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2	0			10:104164422
SEC16A	9919	broad.mit.edu	37	9	139360502	139360502	+	Silent	SNP	G	G	A	rs368855876		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:139360502G>A	ENST00000371706.3	-	6	3714	c.3681C>T	c.(3679-3681)taC>taT	p.Y1227Y	SEC16A_ENST00000313050.7_Silent_p.Y1405Y|SEC16A_ENST00000290037.6_Silent_p.Y1227Y|SEC16A_ENST00000431893.2_Silent_p.Y1227Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1227	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTAGGTGCCGTAGGCAAAAT	0.577																																						ENST00000313050.7		NA																	0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4213-4215)taC>taT		SEC16 homolog A (S. cerevisiae)		G		0,4064		0,0,2032	53.0	65.0	61.0		4215	-0.3	0.1	9		61	2,8408		0,2,4203	no	coding-synonymous	SEC16A	NM_014866.1		0,2,6235	AA,AG,GG		0.0238,0.0,0.016		1405/2358	139360502	2,12472	2032	4205	6237	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139360502G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3681C>T	9.37:g.139360502G>A		False	False		Somatic	0				SEC16A_ENST00000290037.6_Silent_p.Y1227Y|SEC16A_ENST00000371706.3_Silent_p.Y1227Y|SEC16A_ENST00000431893.2_Silent_p.Y1227Y	p.Y1405Y	NM_014866.1	NP_055681.1	WXS	Illumina HiSeq	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	6	4288	-		Myeloproliferative disorder(178;0.0511)	1227					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.4215C>T		.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839346	0.02692	0.0	2.38E-4	ENSG00000148396	ENST00000433860	.	.	.	5.76	-0.351	0.12602	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51028	-0.8757	4	.	.	.	-24.8088	9.9193	0.41455	0.5084:0.0:0.4916:0.0	.	.	.	.	W	102	.	.	R	-	1	2	SEC16A	138480323	0.021000	0.18746	0.099000	0.21106	0.012000	0.07955	-0.799000	0.04560	0.080000	0.16959	-0.136000	0.14681	CGG		0.577	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	XM_088459		9:139360502
KCTD18	130535	broad.mit.edu	37	2	201354855	201354855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:201354855G>A	ENST00000359878.3	-	7	1759	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	417					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTCAGTCCGCACTCCCAAG	0.592																																						ENST00000359878.3		NA																	0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1249-1251)Cgg>Tgg		potassium channel tetramerization domain containing 18							49.0	53.0	52.0					2																	201354855		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201354855G>A	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1249C>T	2.37:g.201354855G>A	ENSP00000352941:p.Arg417Trp	False	False		Somatic	0				KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	p.R417W	NM_152387.2	NP_689600.2	WXS	Illumina HiSeq	Phase_I	Q6PI47	KCD18_HUMAN			7	1759	-			417					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.1249C>T	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121811	0.20877	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.35789	1.29;1.29	5.04	2.02	0.26589	.	1.373990	0.04721	N	0.419262	T	0.17492	0.0420	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17868	-1.0355	10	0.41790	T	0.15	2.0253	4.1114	0.10060	0.2142:0.1959:0.5899:0.0	.	417	Q6PI47	KCD18_HUMAN	W	417	ENSP00000352941:R417W;ENSP00000386751:R417W	ENSP00000352941:R417W	R	-	1	2	KCTD18	201063100	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.283000	0.08433	0.715000	0.32103	0.650000	0.86243	CGG		0.592	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	0	NM_152387		2:201354855
TTC9	23508	broad.mit.edu	37	14	71134284	71134284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:71134284G>T	ENST00000256367.2	+	2	753	c.410G>T	c.(409-411)tGc>tTc	p.C137F		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	137										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCCATAGCCTGCCTGCTCCAG	0.512																																						ENST00000256367.2		NA																	0				skin(1)	1						c.(409-411)tGc>tTc		tetratricopeptide repeat domain 9							47.0	47.0	47.0					14																	71134284		1967	4178	6145	SO:0001583	missense	23508						binding	g.chr14:71134284G>T	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.410G>T	14.37:g.71134284G>T	ENSP00000256367:p.Cys137Phe	True	False		Somatic	0					p.C137F	NM_015351.1	NP_056166.1	WXS	Illumina HiSeq	Phase_I	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	2	753	+			137					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.410G>T	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400773	0.62177	.	.	ENSG00000133985	ENST00000256367	T	0.17691	2.26	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.068925	0.64402	D	0.000014	T	0.51686	0.1689	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62353	-0.6872	10	0.87932	D	0	-15.8465	18.5279	0.90980	0.0:0.0:1.0:0.0	.	137	Q92623	TTC9A_HUMAN	F	137	ENSP00000256367:C137F	ENSP00000256367:C137F	C	+	2	0	TTC9	70204037	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.243000	0.95416	2.596000	0.87737	0.655000	0.94253	TGC		0.512	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	0	XM_027236		14:71134284
FAM181A	90050	broad.mit.edu	37	14	94394668	94394668	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:94394668T>G	ENST00000267594.5	+	3	530	c.223T>G	c.(223-225)Ttc>Gtc	p.F75V	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	75										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTGCTGAACTTCGTGAACCT	0.607																																						ENST00000267594.5		NA																	0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(223-225)Ttc>Gtc		family with sequence similarity 181, member A							83.0	74.0	77.0					14																	94394668		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94394668T>G	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.223T>G	14.37:g.94394668T>G	ENSP00000267594:p.Phe75Val	False	False		Somatic	0				FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V	p.F75V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	WXS	Illumina HiSeq	Phase_I	Q8N9Y4	F181A_HUMAN			3	530	+			75					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.223T>G	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550636	0.86127	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000019	T	0.81559	0.4848	M	0.64404	1.975	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.83842	0.0258	10	0.87932	D	0	-15.2697	14.0621	0.64806	0.0:0.0:0.0:1.0	.	75	Q8N9Y4	F181A_HUMAN	V	13;75;13;13;64	ENSP00000451802:F13V;ENSP00000267594:F75V;ENSP00000451678:F13V;ENSP00000452393:F13V	ENSP00000267594:F75V	F	+	1	0	FAM181A	93464421	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.018000	0.88722	1.733000	0.51620	0.260000	0.18958	TTC		0.607	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	0	NM_138344		14:94394668
PKN1	5585	broad.mit.edu	37	19	14581660	14581660	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:14581660C>T	ENST00000242783.6	+	21	2787	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F	PKN1_ENST00000342216.4_Silent_p.F880F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCCTTCTTCAGGGTGAGAT	0.607																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2620-2622)ttC>ttT		protein kinase N1							84.0	100.0	95.0					19																	14581660		2024	4174	6198	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581660C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2622C>T	19.37:g.14581660C>T		False	False		Somatic	0				PKN1_ENST00000342216.4_Silent_p.F880F	p.F874F	NM_002741.3	NP_002732.3	WXS	Illumina HiSeq	Phase_I	Q16512	PKN1_HUMAN			21	2787	+			874			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.2622C>T	CCDS42513.1																																																																																				0.607	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	0	NM_002741, NM_213560		19:14581660
SYTL2	54843	broad.mit.edu	37	11	85468696	85468696	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:85468696G>A	ENST00000528231.1	-	1	350	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L|SYTL2_ENST00000524452.1_Silent_p.L25L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	25	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCCCTCTTCAGAGCAGCATCC	0.478																																						ENST00000316356.4		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(73-75)Ctg>Ttg		synaptotagmin-like 2							240.0	243.0	242.0					11																	85468696		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85468696G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.73C>T	11.37:g.85468696G>A		False	False		Somatic	0				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000528231.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L	p.L25L			WXS	Illumina HiSeq	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	2	637	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	25			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.73C>T	CCDS53688.1																																																																																				0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	0	NM_206927		11:85468696
MAS1L	116511	broad.mit.edu	37	6	29454889	29454889	+	Missense_Mutation	SNP	G	G	A	rs145448286	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29454889G>A	ENST00000377127.3	-	1	849	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	264					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGCACCACCGCATAGACCCT	0.522																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(790-792)gCg>gTg		MAS1 oncogene-like		G	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	37.0	39.0	38.0		791	-3.7	0.0	6	dbSNP_134	38	0,8600		0,0,4300	yes	missense	MAS1L	NM_052967.1	64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	264/379	29454889	5,13001	2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454889G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.791C>T	6.37:g.29454889G>A	ENSP00000366331:p.Ala264Val	False	False		Somatic	0					p.A264V	NM_052967.1	NP_443199.1	WXS	Illumina HiSeq	Phase_I	P35410	MAS1L_HUMAN			1	849	-			264					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.791C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	2.332	-0.353156	0.05173	0.001135	0.0	ENSG00000204687	ENST00000377127	T	0.36340	1.26	2.23	-3.69	0.04450	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01592	0.0051	N	0.00510	-1.415	0.09310	N	1	B	0.25390	0.125	B	0.25291	0.059	T	0.32561	-0.9902	9	0.02654	T	1	.	3.4815	0.07603	0.5201:0.2028:0.2771:0.0	.	264	P35410	MAS1L_HUMAN	V	264	ENSP00000366331:A264V	ENSP00000366331:A264V	A	-	2	0	MAS1L	29562868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.366000	0.01078	-0.792000	0.04480	-0.451000	0.05528	GCG		0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	0	NM_052967		6:29454889
DUSP6	1848	broad.mit.edu	37	12	89745479	89745479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:89745479G>T	ENST00000279488.7	-	1	1569	c.338C>A	c.(337-339)tCg>tAg	p.S113*	DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000547140.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	113	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|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 ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCCGAGCACCGACTCGCCGCC	0.682																																					Colon(132;3456 5224)	ENST00000279488.7		NA																	0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(337-339)tCg>tAg		dual specificity phosphatase 6							10.0	10.0	10.0					12																	89745479		2160	4241	6401	SO:0001587	stop_gained	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745479G>T	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.338C>A	12.37:g.89745479G>T	ENSP00000279488:p.Ser113*	False	False		Somatic	0				DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*	p.S113*	NM_001946.2	NP_001937.2	WXS	Illumina HiSeq	Phase_I	Q16828	DUS6_HUMAN			1	1569	-			113			Rhodanese.		O75109|Q53Y75|Q9BSH6	Nonsense_Mutation	SNP	ENST00000279488.7	37	c.338C>A	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	46	12.912705	0.99705	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6644	0.88200	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000279488:S113X	S	-	2	0	DUSP6	88269610	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.616000	0.98359	2.646000	0.89796	0.655000	0.94253	TCG		0.682	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	0	NM_001946, NM_022652		12:89745479
LILRB2	10288	broad.mit.edu	37	19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	rs141001610	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:54782813C>T	ENST00000391749.4	-	6	1080	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391748.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627																																						ENST00000391748.1		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(808-810)cGg>cAg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							55.0	58.0	57.0					19																	54782813		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782813C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.809G>A	19.37:g.54782813C>T	ENSP00000375629:p.Arg270Gln	False	False		Somatic	0				LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q	p.R270Q	NM_001278403.1	NP_001265332.1	WXS	Illumina HiSeq	Phase_I	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	936	-	Ovarian(34;0.19)		270			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.809G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	5.569	0.289861	0.10567	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85	1.81	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.309270	0.00911	N	0.002460	T	0.00384	0.0012	N	0.02658	-0.545	0.09310	N	1	B;B;B	0.18310	0.023;0.013;0.027	B;B;B	0.19391	0.011;0.011;0.025	T	0.41945	-0.9480	10	0.02654	T	1	.	1.7023	0.02875	0.2971:0.3746:0.0:0.3284	.	270;287;270	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	270;270;270;270;154	ENSP00000375628:R270Q;ENSP00000319960:R270Q;ENSP00000375629:R270Q;ENSP00000375626:R270Q;ENSP00000410117:R154Q	ENSP00000319960:R270Q	R	-	2	0	LILRB2	59474625	0.000000	0.05858	0.001000	0.08648	0.400000	0.30750	-2.978000	0.00664	-0.281000	0.09141	0.449000	0.29647	CGG		0.627	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1	0			19:54782813
HEXIM1	10614	broad.mit.edu	37	17	43227456	43227456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:43227456G>A	ENST00000332499.2	+	1	2773	c.899G>A	c.(898-900)cGc>cAc	p.R300H	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	300	Mediates interaction with CCNT1.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCTCTCGCGCATGGAGGAC	0.642																																						ENST00000332499.2		NA																	0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(898-900)cGc>cAc		hexamethylene bis-acetamide inducible 1							57.0	67.0	64.0					17																	43227456		2203	4300	6503	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227456G>A	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.899G>A	17.37:g.43227456G>A	ENSP00000328773:p.Arg300His	False	False		Somatic	0					p.R300H	NM_006460.2	NP_006451.1	WXS	Illumina HiSeq	Phase_I	O94992	HEXI1_HUMAN			1	2773	+			300			Mediates interaction with CCNT1.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.899G>A	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923812	0.92319	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.62723	1.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	T	0.79266	-0.1874	9	0.72032	D	0.01	-12.0662	15.8819	0.79211	0.0:0.0:1.0:0.0	.	300	O94992	HEXI1_HUMAN	H	300	.	ENSP00000328773:R300H	R	+	2	0	HEXIM1	40583239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.488000	0.97947	2.338000	0.79540	0.561000	0.74099	CGC		0.642	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	0	NM_006460		17:43227456
KRT80	144501	broad.mit.edu	37	12	52566851	52566851	+	Missense_Mutation	SNP	G	G	A	rs183742007	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:52566851G>A	ENST00000394815.2	-	6	1025	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	KRT80_ENST00000313234.5_Missense_Mutation_p.R310W	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	310	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATCTGGGACCGCAGCTTCTGG	0.637													g|||	2	0.000399361	0.0	0.0	5008	,	,		17689	0.002		0.0	False		,,,				2504	0.0				GBM(178;2309 2916 15678 35873)	ENST00000313234.5		NA																	0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(928-930)Cgg>Tgg		keratin 80		T	TRP/ARG,TRP/ARG	0,4406		0,0,2203	51.0	50.0	50.0		928,928	1.2	0.3	12		50	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KRT80	NM_001081492.1,NM_182507.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	310/423,310/453	52566851	1,13005	2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52566851G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.928C>T	12.37:g.52566851G>A	ENSP00000378292:p.Arg310Trp	False	False		Somatic	0				KRT80_ENST00000394815.2_Missense_Mutation_p.R310W	p.R310W	NM_001081492.1	NP_001074961.1	WXS	Illumina HiSeq	Phase_I	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1025	-			310			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.928C>T	CCDS8821.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	14.10	2.434757	0.43224	0.0	1.16E-4	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89270	-2.49;-2.49	4.39	1.24	0.21308	Filament (1);	0.000000	0.34725	N	0.003726	D	0.93726	0.7995	M	0.80422	2.495	0.19300	N	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.991;0.998	D	0.88202	0.2884	10	0.87932	D	0	.	14.4952	0.67683	0.0:0.0:0.5428:0.4572	.	310;310;345	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	W	310	ENSP00000369361:R310W;ENSP00000378292:R310W	ENSP00000369361:R310W	R	-	1	2	KRT80	50853118	0.000000	0.05858	0.287000	0.24848	0.492000	0.33523	0.185000	0.16958	0.577000	0.29470	-0.217000	0.12591	CGG		0.637	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	0	NM_182507		12:52566851
SAMSN1	64092	broad.mit.edu	37	21	15882757	15882757	+	Silent	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:15882757A>G	ENST00000400566.1	-	5	516	c.435T>C	c.(433-435)ggT>ggC	p.G145G	SAMSN1_ENST00000285670.2_Silent_p.G213G|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	145					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGTTACTTGTACCATCTGAAC	0.473																																						ENST00000285670.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(637-639)ggT>ggC		SAM domain, SH3 domain and nuclear localization signals 1							103.0	98.0	100.0					21																	15882757		2075	4224	6299	SO:0001819	synonymous_variant	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882757A>G	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.435T>C	21.37:g.15882757A>G		False	False		Somatic	0				SAMSN1_ENST00000400566.1_Silent_p.G145G|SAMSN1_ENST00000400564.1_Intron	p.G213G	NM_001256370.1	NP_001243299.1	WXS	Illumina HiSeq	Phase_I	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	813	-			145			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	ENST00000400566.1	37	c.639T>C	CCDS42906.1																																																																																				0.473	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1	0			21:15882757
CEP170B	283638	broad.mit.edu	37	14	105353866	105353866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:105353866G>A	ENST00000414716.3	+	12	3518	c.3290G>A	c.(3289-3291)cGt>cAt	p.R1097H	CEP170B_ENST00000453495.1_Missense_Mutation_p.R1098H|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1097						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GAGCAGAGCCGTAGCTCAGCC	0.726																																						ENST00000453495.1		NA																	0					NA						c.(3292-3294)cGt>cAt		centrosomal protein 170B							10.0	14.0	13.0					14																	105353866		1925	4091	6016	SO:0001583	missense	283638							g.chr14:105353866G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3290G>A	14.37:g.105353866G>A	ENSP00000404151:p.Arg1097His	False	False		Somatic	0				CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000414716.3_Missense_Mutation_p.R1097H	p.R1098H			WXS	Illumina HiSeq	Phase_I					12	3521	+			NA					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3293G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895486	0.17613	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.34	4.34	0.51931	.	0.481200	0.20494	N	0.091239	T	0.36082	0.0954	M	0.63428	1.95	0.35035	D	0.759172	B;B;B	0.28667	0.143;0.027;0.219	B;B;B	0.21360	0.034;0.007;0.034	T	0.52223	-0.8604	10	0.66056	D	0.02	-15.6478	6.6379	0.22893	0.1748:0.0:0.8252:0.0	.	1097;1097;1027	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	H	1027;1097;1098;1027	ENSP00000451249:R1027H;ENSP00000404151:R1097H;ENSP00000407238:R1098H;ENSP00000415006:R1027H	ENSP00000404151:R1097H	R	+	2	0	KIAA0284	104424911	1.000000	0.71417	0.524000	0.27887	0.032000	0.12392	3.850000	0.55918	1.961000	0.56991	0.423000	0.28283	CGT		0.726	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	0	NM_001112726		14:105353866
SLC22A20	440044	broad.mit.edu	37	11	65004295	65004295	+	RNA	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:65004295G>A	ENST00000525437.1	+	0	1545							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGCTGGCCGTCTGCGTCCT	0.657																																						ENST00000525437.1		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															62.0	68.0	66.0					11																	65004295		2082	4210	6292			0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65004295G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65004295G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	A6NK97	S22AK_HUMAN			0	1545	+			NA					B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.657	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	0	NM_001004326		11:65004295
AGAP4	119016	broad.mit.edu	37	10	51225503	51225503	+	Silent	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:51225503C>G	ENST00000425119.2	-	7	1604	c.1479G>C	c.(1477-1479)gtG>gtC	p.V493V	AGAP8_ENST00000602930.1_Silent_p.V477V	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		493	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CCAGAGATCGCACACGGGAAA	0.532																																						ENST00000602930.1		NA																	0				breast(1)|endometrium(1)|lung(2)|ovary(2)	6						c.(1429-1431)gtG>gtC		ArfGAP with GTPase domain, ankyrin repeat and PH domain 8							77.0	81.0	79.0					10																	51225503		2189	4258	6447	SO:0001819	synonymous_variant	728404				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51225503C>G																												ENST00000425119.2:c.1479G>C	10.37:g.51225503C>G		False	False		Somatic	0				AGAP8_ENST00000425119.2_Silent_p.V493V	p.V477V	NM_001276343.1	NP_001263272.1	WXS	Illumina HiSeq	Phase_I	Q5SRD3	AGAP8_HUMAN			9	1980	-			493			Arf-GAP.			Silent	SNP	ENST00000425119.2	37	c.1431G>C	CCDS41522.1																																																																																				0.532	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048022.2	0			10:51225503
DCAF4L2	138009	broad.mit.edu	37	8	88885063	88885063	+	Silent	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:88885063T>C	ENST00000319675.3	-	1	1233	c.1137A>G	c.(1135-1137)ccA>ccG	p.P379P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	379										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAGCAGCCCTGGTGCTCCTC	0.562																																						ENST00000319675.3		NA																	0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1135-1137)ccA>ccG		DDB1 and CUL4 associated factor 4-like 2							49.0	55.0	53.0					8																	88885063		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885063T>C	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1137A>G	8.37:g.88885063T>C		True	False		Somatic	0					p.P379P	NM_152418.3	NP_689631.1	WXS	Illumina HiSeq	Phase_I	Q8NA75	DC4L2_HUMAN			1	1233	-			379						Silent	SNP	ENST00000319675.3	37	c.1137A>G	CCDS6245.1																																																																																				0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	0	NM_152418		8:88885063
SPOCK1	6695	broad.mit.edu	37	5	136476343	136476343	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:136476343G>A	ENST00000394945.1	-	4	442	c.273C>T	c.(271-273)tgC>tgT	p.C91C	SPOCK1_ENST00000282223.7_Silent_p.C91C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	91					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGAGGGCTGCATTTTACCT	0.567																																						ENST00000394945.1		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(271-273)tgC>tgT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							68.0	55.0	59.0					5																	136476343		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136476343G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.273C>T	5.37:g.136476343G>A		False	False		Somatic	0				SPOCK1_ENST00000282223.7_Silent_p.C91C	p.C91C	NM_004598.3	NP_004589.1	WXS	Illumina HiSeq	Phase_I	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	442	-			91					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.273C>T	CCDS4191.1																																																																																				0.567	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	0	NM_004598		5:136476343
KIAA1211	57482	broad.mit.edu	37	4	57180336	57180336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:57180336G>A	ENST00000504228.1	+	6	773	c.668G>A	c.(667-669)cGc>cAc	p.R223H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H			Q6ZU35	K1211_HUMAN	KIAA1211	223	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGAAGACGCCAAGAAGAC	0.612																																						ENST00000504228.1		NA																	0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(667-669)cGc>cAc		KIAA1211							35.0	45.0	42.0					4																	57180336		2035	4190	6225	SO:0001583	missense	57482							g.chr4:57180336G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.668G>A	4.37:g.57180336G>A	ENSP00000423366:p.Arg223His	False	False		Somatic	0				KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H	p.R223H			WXS	Illumina HiSeq	Phase_I	Q6ZU35	K1211_HUMAN			6	773	+	Glioma(25;0.08)|all_neural(26;0.101)		223			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.668G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	9.671	1.146801	0.21288	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12255	2.7;2.7;2.7	5.07	-0.161	0.13371	.	.	.	.	.	T	0.07683	0.0193	L	0.44542	1.39	0.09310	N	1	B;B;B	0.29612	0.251;0.022;0.022	B;B;B	0.20767	0.031;0.007;0.007	T	0.36553	-0.9743	9	0.17369	T	0.5	-5.3546	0.3015	0.00274	0.2693:0.1396:0.2867:0.3044	.	216;216;223	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	223;223;216;133	ENSP00000264229:R223H;ENSP00000423366:R223H;ENSP00000444006:R216H	ENSP00000264229:R223H	R	+	2	0	KIAA1211	56875093	0.000000	0.05858	0.160000	0.22671	0.856000	0.48823	0.263000	0.18478	0.225000	0.20959	0.561000	0.74099	CGC		0.612	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	0	NM_020722		4:57180336
GPR84	53831	broad.mit.edu	37	12	54756512	54756512	+	Missense_Mutation	SNP	C	C	T	rs546291952	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:54756512C>T	ENST00000551809.1	-	1	1759	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R375H			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	375						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCGGAATTGGCGGTTCATGGC	0.542													C|||	35	0.00698882	0.0	0.0	5008	,	,		16255	0.0		0.0	False		,,,				2504	0.0358					ENST00000551809.1		NA																	0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1123-1125)cGc>cAc		G protein-coupled receptor 84							153.0	174.0	167.0					12																	54756512		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756512C>T	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1124G>A	12.37:g.54756512C>T	ENSP00000450310:p.Arg375His	False	False		Somatic	0				GPR84_ENST00000267015.3_Missense_Mutation_p.R375H|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.R375H			WXS	Illumina HiSeq	Phase_I	Q9NQS5	GPR84_HUMAN			1	1759	-			375					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.1124G>A	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317270	0.81469	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.39592	1.07;1.07	5.43	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.49779	0.1577	M	0.77406	2.37	0.53688	D	0.999971	D	0.64830	0.994	P	0.47528	0.549	T	0.54715	-0.8252	10	0.42905	T	0.14	-7.4502	12.1512	0.54051	0.0:0.9163:0.0:0.0837	.	375	Q9NQS5	GPR84_HUMAN	H	375	ENSP00000267015:R375H;ENSP00000450310:R375H	ENSP00000267015:R375H	R	-	2	0	GPR84	53042779	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.314000	0.65804	1.437000	0.47472	0.655000	0.94253	CGC		0.542	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1	0			12:54756512
TET3	200424	broad.mit.edu	37	2	74317154	74317154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:74317154G>A	ENST00000409262.3	+	5	2614	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	872					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCCGCCTCGCAGGGGACAA	0.592																																						ENST00000409262.3		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2614-2616)Gca>Aca		tet methylcytosine dioxygenase 3							84.0	92.0	89.0					2																	74317154		2056	4202	6258	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74317154G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2614G>A	2.37:g.74317154G>A	ENSP00000386869:p.Ala872Thr	False	False		Somatic	0					p.A872T	NM_144993.1	NP_659430.1	WXS	Illumina HiSeq	Phase_I	O43151	TET3_HUMAN			5	2614	+			872					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2614G>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705976	0.15172	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.11821	2.74	5.3	1.27	0.21489	TET cysteine-rich domain (1);	0.536026	0.21571	N	0.072420	T	0.04182	0.0116	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43163	-0.9408	10	0.06891	T	0.86	.	5.0566	0.14537	0.4494:0.1493:0.4013:0.0	.	872	O43151	TET3_HUMAN	T	872	ENSP00000386869:A872T	ENSP00000233310:A872T	A	+	1	0	TET3	74170662	0.023000	0.18921	0.016000	0.15963	0.975000	0.68041	0.734000	0.26101	0.331000	0.23511	0.655000	0.94253	GCA		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4	0			2:74317154
DBH	1621	broad.mit.edu	37	9	136508639	136508639	+	Silent	SNP	C	C	T	rs78200745		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:136508639C>T	ENST00000393056.2	+	4	861	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	283					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662																																						ENST00000393056.2		NA																	0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(847-849)tgC>tgT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)	C		0,4406		0,0,2203	63.0	64.0	64.0		849	-4.6	0.9	9	dbSNP_131	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		283/618	136508639	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508639C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.849C>T	9.37:g.136508639C>T		False	False		Somatic	0					p.C283C	NM_000787.3	NP_000778.3	WXS	Illumina HiSeq	Phase_I	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	861	+			283					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.849C>T	CCDS6977.2																																																																																				0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	0	NM_000787		9:136508639
OR5F1	338674	broad.mit.edu	37	11	55761879	55761879	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:55761879T>G	ENST00000278409.1	-	1	222	c.223A>C	c.(223-225)Act>Cct	p.T75P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGATGGTAGTTGAGTTACAA	0.443																																						ENST00000278409.1		NA																	0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(223-225)Act>Cct		olfactory receptor, family 5, subfamily F, member 1							64.0	61.0	62.0					11																	55761879		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761879T>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.223A>C	11.37:g.55761879T>G	ENSP00000278409:p.Thr75Pro	False	False		Somatic	0					p.T75P	NM_003697.1	NP_003688.1	WXS	Illumina HiSeq	Phase_I	O95221	OR5F1_HUMAN			1	222	-	Esophageal squamous(21;0.00448)		75					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.223A>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	9.452	1.090942	0.20471	.	.	ENSG00000149133	ENST00000278409	T	0.00402	7.56	3.03	0.33	0.15929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.79926	2.475	0.09310	N	1	B	0.34226	0.443	B	0.32465	0.146	T	0.34900	-0.9810	9	0.87932	D	0	.	7.279	0.26300	0.4403:0.0:0.0:0.5596	.	75	O95221	OR5F1_HUMAN	P	75	ENSP00000278409:T75P	ENSP00000278409:T75P	T	-	1	0	OR5F1	55518455	0.006000	0.16342	0.036000	0.18154	0.077000	0.17291	0.070000	0.14573	-0.198000	0.10333	0.247000	0.18012	ACT		0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	0	NM_003697		11:55761879
RP11-156P1.2	0	broad.mit.edu	37	17	45126612	45126612	+	IGR	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:45126612A>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							ATTCATGAAGACGTTACAAGC	0.483																																						ENST00000575173.1		NA																	0					NA																																												SO:0001628	intergenic_variant	0							g.chr17:45126612A>G																													17.37:g.45126612A>G		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	-			NA						RNA	SNP	ENST00000571841.1	37																																																																																						0.483	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1	0			17:45126612
CAPN11	11131	broad.mit.edu	37	6	44144381	44144381	+	Silent	SNP	C	C	T	rs370482641		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:44144381C>T	ENST00000398776.1	+	10	1103	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CAPN11_ENST00000542245.1_Silent_p.D355D	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	355	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGACGGAGGACGGGGAGTTCT	0.627																																						ENST00000398776.1		NA																	0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1063-1065)gaC>gaT		calpain 11		C		0,4192		0,0,2096	94.0	110.0	104.0		1065	-5.4	0.6	6		104	1,8459		0,1,4229	no	coding-synonymous	CAPN11	NM_007058.3		0,1,6325	TT,TC,CC		0.0118,0.0,0.0079		355/740	44144381	1,12651	2096	4230	6326	SO:0001819	synonymous_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144381C>T	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1065C>T	6.37:g.44144381C>T		True	False		Somatic	0				CAPN11_ENST00000542245.1_Silent_p.D355D	p.D355D	NM_007058.3	NP_008989.2	WXS	Illumina HiSeq	Phase_I	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1103	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		355			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	ENST00000398776.1	37	c.1065C>T	CCDS47436.1																																																																																				0.627	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3	0			6:44144381
GLI2	2736	broad.mit.edu	37	2	121736059	121736059	+	Missense_Mutation	SNP	G	G	A	rs150170739		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:121736059G>A	ENST00000452319.1	+	10	1478	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	GLI2_ENST00000314490.11_Missense_Mutation_p.R145H|GLI2_ENST00000361492.4_Missense_Mutation_p.R473H|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTTGTGTGCCGCTGGCAGGCC	0.632																																						ENST00000452319.1		NA																	0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1417-1419)cGc>cAc		GLI family zinc finger 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	131.0	133.0		1418	4.0	1.0	2	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GLI2	NM_005270.4	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	473/1587	121736059	2,13004	2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121736059G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1418G>A	2.37:g.121736059G>A	ENSP00000390436:p.Arg473His	False	False		Somatic	0				GLI2_ENST00000361492.4_Missense_Mutation_p.R473H|GLI2_ENST00000314490.11_Missense_Mutation_p.R145H|GLI2_ENST00000435313.2_3'UTR	p.R473H			WXS	Illumina HiSeq	Phase_I	P10070	GLI2_HUMAN			10	1478	+	Renal(3;0.0496)	Prostate(154;0.0623)	473						Missense_Mutation	SNP	ENST00000452319.1	37	c.1418G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234684	0.58886	2.27E-4	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91792	-2.91;-2.91;-2.91	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.115971	0.64402	D	0.000011	D	0.92463	0.7607	N	0.25890	0.77	0.80722	D	1	B;D;D;B;B	0.89917	0.188;1.0;0.983;0.301;0.054	B;D;P;B;B	0.80764	0.035;0.994;0.599;0.052;0.04	D	0.91007	0.4847	10	0.26408	T	0.33	.	16.6998	0.85346	0.0:0.0:1.0:0.0	.	473;456;128;128;145	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	H	473;473;145	ENSP00000390436:R473H;ENSP00000354586:R473H;ENSP00000312694:R145H	ENSP00000312694:R145H	R	+	2	0	GLI2	121452529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.714000	0.84703	2.249000	0.74217	0.491000	0.48974	CGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	0	NM_005270		2:121736059
DDX41	51428	broad.mit.edu	37	5	176941738	176941738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176941738C>T	ENST00000507955.1	-	9	1422	c.899G>A	c.(898-900)gGc>gAc	p.G300D	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	300	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACGGACATGCCCCCAATGCA	0.637																																						ENST00000507955.1		NA																	0					NA						c.(898-900)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							86.0	94.0	91.0					5																	176941738		2202	4298	6500	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176941738C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.899G>A	5.37:g.176941738C>T	ENSP00000422753:p.Gly300Asp	True	False		Somatic	0					p.G300D	NM_016222.2	NP_057306.2	WXS	Illumina HiSeq	Phase_I	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		9	1422	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	300			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.899G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795543	0.90453	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.50548	0.74;0.74	5.74	4.85	0.62838	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056454	0.64402	N	0.000001	T	0.76026	0.3930	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83210	-0.0074	10	0.87932	D	0	-27.0527	15.8993	0.79359	0.1364:0.8636:0.0:0.0	.	174;300	B3KRK2;Q9UJV9	.;DDX41_HUMAN	D	318;300	ENSP00000330349:G318D;ENSP00000422753:G300D	ENSP00000330349:G318D	G	-	2	0	DDX41	176874344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.351000	0.79395	1.378000	0.46305	0.655000	0.94253	GGC		0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	0	NM_016222		5:176941738
STXBP5L	9515	broad.mit.edu	37	3	121097633	121097633	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:121097633C>T	ENST00000273666.6	+	22	2590	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Silent_p.A773A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	773					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTCTAGTGCCGATGTTTCAA	0.473																																						ENST00000273666.6		NA																	0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2317-2319)gcC>gcT		syntaxin binding protein 5-like							60.0	56.0	57.0					3																	121097633		1870	4105	5975	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097633C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2319C>T	3.37:g.121097633C>T		False	False		Somatic	0				STXBP5L_ENST00000492541.1_Silent_p.A773A|STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000497029.1_Intron	p.A773A	NM_014980.2	NP_055795.1	WXS	Illumina HiSeq	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	22	2590	+			773					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.2319C>T	CCDS43137.1																																																																																				0.473	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	0			3:121097633
CHERP	10523	broad.mit.edu	37	19	16652806	16652806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:16652806C>T	ENST00000198939.6	-	2	110	c.74G>A	c.(73-75)cGc>cAc	p.R25H	CHERP_ENST00000546361.2_Missense_Mutation_p.R25H|CTD-3222D19.7_ENST00000595909.1_lincRNA|CTD-3222D19.2_ENST00000409035.1_Intron|RN7SL146P_ENST00000472338.2_RNA					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGGCCCATTGCGAGCCACGAA	0.547																																						ENST00000546361.2		NA																	0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(73-75)cGc>cAc		calcium homeostasis endoplasmic reticulum protein							75.0	88.0	84.0					19																	16652806		1923	4112	6035	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16652806C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.74G>A	19.37:g.16652806C>T	ENSP00000198939:p.Arg25His	False	False		Somatic	0				CHERP_ENST00000198939.6_Missense_Mutation_p.R25H|CTD-3222D19.2_ENST00000409035.1_Intron	p.R25H	NM_006387.5	NP_006378.3	WXS	Illumina HiSeq	Phase_I	Q8IWX8	CHERP_HUMAN			2	225	-			25						Missense_Mutation	SNP	ENST00000198939.6	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.720028	0.96839	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.52526	0.66;0.66	4.46	4.46	0.54185	SWAP/Surp (3);	.	.	.	.	T	0.76955	0.4060	H	0.95004	3.61	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.84965	0.0879	9	0.87932	D	0	-22.3913	16.1266	0.81400	0.0:1.0:0.0:0.0	.	25	Q8IWX8	CHERP_HUMAN	H	25	ENSP00000439856:R25H;ENSP00000198939:R25H	ENSP00000198939:R25H	R	-	2	0	CHERP	16513806	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.165000	0.77544	2.026000	0.59711	0.511000	0.50034	CGC		0.547	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	0	NM_006387		19:16652806
NPTXR	23467	broad.mit.edu	37	22	39222607	39222607	+	Silent	SNP	G	G	A	rs557229755		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:39222607G>A	ENST00000333039.2	-	3	1119	c.996C>T	c.(994-996)acC>acT	p.T332T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	332	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCCCTGGCCGGTGCCGCTGG	0.637																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2		NA																	0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(994-996)acC>acT		neuronal pentraxin receptor							72.0	68.0	69.0					22																	39222607		2203	4300	6503	SO:0001819	synonymous_variant	23467					integral to membrane	metal ion binding	g.chr22:39222607G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.996C>T	22.37:g.39222607G>A		False	False		Somatic	0					p.T332T	NM_014293.3	NP_055108	WXS	Illumina HiSeq	Phase_I	O95502	NPTXR_HUMAN			3	1119	-	Melanoma(58;0.04)		332			Pentaxin.			Silent	SNP	ENST00000333039.2	37	c.996C>T	CCDS33647.1																																																																																				0.637	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	0	NM_014293		22:39222607
GLTSCR2	29997	broad.mit.edu	37	19	48248871	48248871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:48248871G>A	ENST00000246802.5	+	1	93	c.55G>A	c.(55-57)Gat>Aat	p.D19N	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	19						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGCGATGCCGATTCTGGTTT	0.642																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(55-57)Gat>Aat		glioma tumor suppressor candidate region gene 2							81.0	92.0	88.0					19																	48248871		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48248871G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.55G>A	19.37:g.48248871G>A	ENSP00000246802:p.Asp19Asn	False	False		Somatic	0				GLTSCR2_ENST00000598681.1_3'UTR	p.D19N	NM_015710.4	NP_056525.2	WXS	Illumina HiSeq	Phase_I	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	93	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	19					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.55G>A	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728740	0.48833	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33865	1.39	4.55	2.37	0.29283	.	0.288040	0.34088	N	0.004263	T	0.20129	0.0484	L	0.34521	1.04	0.09310	N	1	D;D;D	0.52996	0.957;0.957;0.957	B;B;B	0.34301	0.179;0.179;0.179	T	0.16394	-1.0404	10	0.62326	D	0.03	-7.8529	7.5527	0.27806	0.2055:0.0:0.7945:0.0	.	19;19;17	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	N	19	ENSP00000246802:D19N	ENSP00000246802:D19N	D	+	1	0	GLTSCR2	52940683	0.391000	0.25221	0.016000	0.15963	0.050000	0.14768	0.829000	0.27449	0.454000	0.26884	0.655000	0.94253	GAT		0.642	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	0	NM_015710		19:48248871
KCNH8	131096	broad.mit.edu	37	3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:19436644C>T	ENST00000328405.2	+	7	1284	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	340					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R340C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCGTCTTTTGCGTCTGCTGCA	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2		NA																	1	Substitution - Missense(1)	p.R340C(1)	lung(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1018-1020)Cgt>Tgt		potassium voltage-gated channel, subfamily H (eag-related), member 8							196.0	162.0	174.0					3																	19436644		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19436644C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1018C>T	3.37:g.19436644C>T	ENSP00000328813:p.Arg340Cys	False	False		Somatic	0				KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	p.R340C	NM_144633.2	NP_653234.2	WXS	Illumina HiSeq	Phase_I	Q96L42	KCNH8_HUMAN			7	1284	+			340					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1018C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672024	0.88348	.	.	ENSG00000183960	ENST00000328405	D	0.99523	-6.08	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.32416	U	0.006131	D	0.99722	0.9892	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97601	1.0123	9	.	.	.	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	340;340	B7Z398;Q96L42	.;KCNH8_HUMAN	C	340	ENSP00000328813:R340C	.	R	+	1	0	KCNH8	19411648	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	4.787000	0.62432	2.742000	0.94016	0.650000	0.86243	CGT		0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	0	NM_144633		3:19436644
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
TRO	7216	broad.mit.edu	37	X	54957327	54957327	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:54957327G>A	ENST00000173898.7	+	12	4282	c.4170G>A	c.(4168-4170)ccG>ccA	p.P1390P	TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1390	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCGGTGGACCGAGCACAGGAG	0.602																																						ENST00000173898.7		NA																	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(4168-4170)ccG>ccA		trophinin							61.0	63.0	62.0					X																	54957327		2044	4183	6227	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957327G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4170G>A	X.37:g.54957327G>A		False	False		Somatic	0				TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000420798.2_Silent_p.P921P	p.P1390P	NM_001039705.2	NP_001034794.1	WXS	Illumina HiSeq	Phase_I	Q12816	TROP_HUMAN			12	4282	+			1390			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.4170G>A	CCDS43959.1																																																																																				0.602	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	0	NM_016157		X:54957327
SF3B6	51639	broad.mit.edu	37	2	24297040	24297040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:24297040G>A	ENST00000233468.4	-	2	268	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAATATCCGATTTACTTCA	0.294																																						ENST00000233468.4		NA																	0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(55-57)Cgg>Tgg									91.0	89.0	90.0					2																	24297040		2203	4298	6501	SO:0001583	missense	0				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24297040G>A																												ENST00000233468.4:c.55C>T	2.37:g.24297040G>A	ENSP00000233468:p.Arg19Trp	False	False		Somatic	0					p.R19W	NM_016047.3	NP_057131.1	WXS	Illumina HiSeq	Phase_I	Q9Y3B4	PM14_HUMAN			2	268	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		19			RRM.			Missense_Mutation	SNP	ENST00000233468.4	37	c.55C>T	CCDS1707.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901228	0.72754	.	.	ENSG00000115128	ENST00000233468	T	0.36157	1.27	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80708	-0.1262	10	0.87932	D	0	-7.637	12.7778	0.57459	0.0:0.0:0.8358:0.1642	.	19	Q9Y3B4	PM14_HUMAN	W	19	ENSP00000233468:R19W	ENSP00000233468:R19W	R	-	1	2	AC008073.5	24150544	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.084000	0.50143	2.351000	0.79841	0.467000	0.42956	CGG		0.294	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246826.1	0			2:24297040
NUP210	23225	broad.mit.edu	37	3	13377062	13377062	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:13377062G>A	ENST00000254508.5	-	28	3817	c.3735C>T	c.(3733-3735)ggC>ggT	p.G1245G	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1245					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTTTACCCGGCCGAGCACGT	0.607																																						ENST00000254508.5		NA																	0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3733-3735)ggC>ggT		nucleoporin 210kDa							80.0	76.0	78.0					3																	13377062		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377062G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3735C>T	3.37:g.13377062G>A		False	False		Somatic	0					p.G1245G	NM_024923.2	NP_079199.2	WXS	Illumina HiSeq	Phase_I	Q8TEM1	PO210_HUMAN			28	3817	-	all_neural(104;0.187)		1245					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3735C>T	CCDS33704.1																																																																																				0.607	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	0	NM_024923		3:13377062
TMCO6	55374	broad.mit.edu	37	5	140023774	140023774	+	Missense_Mutation	SNP	G	G	A	rs373658685		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140023774G>A	ENST00000394671.3	+	10	1296	c.1195G>A	c.(1195-1197)Gta>Ata	p.V399I	TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	399					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGAGCGTAATGGTATG	0.483																																						ENST00000394671.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(1195-1197)Gta>Ata		transmembrane and coiled-coil domains 6		G	ILE/VAL	0,4000		0,0,2000	230.0	219.0	223.0		1195	-2.5	0.6	5		223	1,8365		0,1,4182	no	missense	TMCO6	NM_018502.3	29	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	399/494	140023774	1,12365	2000	4183	6183	SO:0001583	missense	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023774G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1195G>A	5.37:g.140023774G>A	ENSP00000378166:p.Val399Ile	False	False		Somatic	0				NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	p.V399I	NM_018502.3	NP_060972.3	WXS	Illumina HiSeq	Phase_I	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1296	+			399					Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	c.1195G>A	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355472	0.24598	0.0	1.2E-4	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	-2.54	0.06307	Armadillo-like helical (1);Armadillo-type fold (1);	0.738080	0.12812	N	0.437062	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.24977	-1.0145	10	0.06625	T	0.88	1.034	3.6547	0.08217	0.4213:0.1005:0.3762:0.1019	.	405;399	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	I	399;159;405	ENSP00000378166:V399I;ENSP00000444474:V159I;ENSP00000252100:V405I	ENSP00000252100:V405I	V	+	1	0	TMCO6	140003958	0.001000	0.12720	0.606000	0.28943	0.959000	0.62525	-0.475000	0.06599	-0.410000	0.07542	-0.368000	0.07277	GTA		0.483	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	0	NM_018502		5:140023774
BCLAF1	9774	broad.mit.edu	37	6	136589449	136589449	+	Nonsense_Mutation	SNP	G	G	A	rs147719127		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:136589449G>A	ENST00000531224.1	-	10	2500	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	750	Poly-Ser.				apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R750G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1		NA																	1	Substitution - Missense(1)	p.R750G(1)	urinary_tract(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2248-2250)Cga>Tga		BCL2-associated transcription factor 1		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	101.0	87.0	92.0		2242,1729,2248	4.1	1.0	6	dbSNP_134	92	5,8595	2.2+/-6.3	0,5,4295	yes	stop-gained,stop-gained,stop-gained	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	,,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,,	748/870,577/748,750/921	136589449	5,13001	2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589449G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2248C>T	6.37:g.136589449G>A	ENSP00000435210:p.Arg750*	False	False		Somatic	0				BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*	p.R750*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina HiSeq	Phase_I	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2500	-	Colorectal(23;0.24)		750			Poly-Ser.		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.2248C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.204499	0.99099	0.0	5.81E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	.	.	.	4.97	4.07	0.47477	.	0.000000	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7893	12.524	0.56075	0.0:0.0:0.612:0.388	.	.	.	.	X	750;748;750;577;748;748	.	ENSP00000229446:R748X	R	-	1	2	BCLAF1	136631142	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.833000	0.39161	1.190000	0.43042	0.484000	0.47621	CGA		0.338	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	0	NM_014739		6:136589449
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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																																						ENST00000409886.3		NA																	6	Substitution - Missense(6)	p.N756D(6)	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		RANBP2-like and GRIP domain containing 3							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	True	False		Somatic	0				RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	WXS	Illumina HiSeq	Phase_I	A6NKT7	RGPD3_HUMAN			16	2353	-			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	0	XM_929931		2:107049681
EPHA1	2041	broad.mit.edu	37	7	143096794	143096794	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:143096794C>T	ENST00000275815.3	-	4	871	c.785G>A	c.(784-786)tGc>tAc	p.C262Y		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	262	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCACAGTGGCACCGTCCTAC	0.652																																						ENST00000275815.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(784-786)tGc>tAc		EPH receptor A1							41.0	45.0	44.0					7																	143096794		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096794C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.785G>A	7.37:g.143096794C>T	ENSP00000275815:p.Cys262Tyr	False	False		Somatic	0					p.C262Y	NM_005232.4	NP_005223.4	WXS	Illumina HiSeq	Phase_I	P21709	EPHA1_HUMAN			4	871	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	262			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.785G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877639	0.72294	.	.	ENSG00000146904	ENST00000275815	D	0.86627	-2.15	5.22	4.33	0.51752	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000003	D	0.92652	0.7665	M	0.93978	3.48	0.49213	D	0.999766	D	0.58970	0.984	P	0.51550	0.673	D	0.94170	0.7422	10	0.87932	D	0	.	13.6352	0.62219	0.0:0.926:0.0:0.074	.	262	P21709	EPHA1_HUMAN	Y	262	ENSP00000275815:C262Y	ENSP00000275815:C262Y	C	-	2	0	EPHA1	142806916	1.000000	0.71417	0.986000	0.45419	0.907000	0.53573	7.518000	0.81795	1.409000	0.46915	0.655000	0.94253	TGC		0.652	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	0			7:143096794
SHD	56961	broad.mit.edu	37	19	4283173	4283173	+	Missense_Mutation	SNP	C	C	T	rs200550741	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4283173C>T	ENST00000543264.2	+	3	1989	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SHD_ENST00000599689.1_Missense_Mutation_p.R176W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGATGAACGGCCAGCAGA	0.567													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0					ENST00000543264.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(526-528)Cgg>Tgg		Src homology 2 domain containing transforming protein D							59.0	57.0	58.0					19																	4283173		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4283173C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.526C>T	19.37:g.4283173C>T	ENSP00000446058:p.Arg176Trp	False	False		Somatic	0				SHD_ENST00000599689.1_Missense_Mutation_p.R176W	p.R176W	NM_020209.3	NP_064594.3	WXS	Illumina HiSeq	Phase_I	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1989	+			176					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.526C>T	CCDS12125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.6	4.175397	0.78564	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.35973	1.28	5.47	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.80332	2.49	0.42300	D	0.992177	D	0.89917	1.0	D	0.76071	0.987	T	0.63346	-0.6658	10	0.87932	D	0	-10.4695	11.5411	0.50667	0.4875:0.5125:0.0:0.0	.	176	Q96IW2	SHD_HUMAN	W	176;91	ENSP00000446058:R176W	ENSP00000221852:R91W	R	+	1	2	SHD	4234173	0.997000	0.39634	0.968000	0.41197	0.970000	0.65996	0.914000	0.28624	0.607000	0.29982	0.448000	0.29417	CGG		0.567	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	0	NM_020209		19:4283173
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:225659771C>T	ENST00000258390.7	-	45	5046	c.4979G>A	c.(4978-4980)cGt>cAt	p.R1660H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1654H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478																																						ENST00000409592.3		NA																	2	Substitution - Missense(2)	p.R1658H(1)|p.R198H(1)	large_intestine(2)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4960-4962)cGt>cAt		dedicator of cytokinesis 10							142.0	143.0	143.0					2																	225659771		2005	4185	6190	SO:0001583	missense	55619						GTP binding	g.chr2:225659771C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4979G>A	2.37:g.225659771C>T	ENSP00000258390:p.Arg1660His	False	False		Somatic	0				DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H	p.R1654H			WXS	Illumina HiSeq	Phase_I	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	45	5074	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1660			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4961G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	DOCK10	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT		0.478	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	0			2:225659771
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1		NA																	0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser	False	False		Somatic	0				POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	WXS	Illumina HiSeq	Phase_I	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	0			7:72398976
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2		NA																	0					NA															44.0	41.0	42.0					14																	106237582		1903	4068	5971			0							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	160	-			NA					A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	0	NG_001019		14:106237582
GIPR	2696	broad.mit.edu	37	19	46178073	46178073	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:46178073C>G	ENST00000590918.1	+	7	721	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	GIPR_ENST00000304207.8_Missense_Mutation_p.L172V|GIPR_ENST00000263281.3_Missense_Mutation_p.L208V|MIR642A_ENST00000385039.1_RNA	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	208					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGCCCTTGCGCTGTGGAACCA	0.577																																						ENST00000590918.1		NA																	0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(622-624)Ctg>Gtg		gastric inhibitory polypeptide receptor							67.0	58.0	61.0					19																	46178073		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46178073C>G		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.622C>G	19.37:g.46178073C>G	ENSP00000467494:p.Leu208Val	False	False		Somatic	0				GIPR_ENST00000263281.3_Missense_Mutation_p.L208V|GIPR_ENST00000304207.8_Missense_Mutation_p.L172V	p.L208V	NM_000164.2	NP_000155.1	WXS	Illumina HiSeq	Phase_I	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	7	721	+		Ovarian(192;0.051)|all_neural(266;0.112)	208					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.622C>G	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209882	0.01555	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.57907	0.37;1.21	4.29	2.14	0.27477	GPCR, family 2-like (1);	0.694941	0.12035	N	0.505605	T	0.29749	0.0743	N	0.04959	-0.14	0.09310	N	1	B;P;B	0.40000	0.187;0.698;0.17	B;B;B	0.40825	0.145;0.341;0.2	T	0.09100	-1.0690	10	0.29301	T	0.29	.	6.6579	0.22998	0.0:0.7816:0.0:0.2184	.	172;208;208	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	V	208;172	ENSP00000263281:L208V;ENSP00000305321:L172V	ENSP00000263281:L208V	L	+	1	2	GIPR	50869913	0.163000	0.22920	0.137000	0.22149	0.030000	0.12068	0.778000	0.26732	0.565000	0.29255	-0.258000	0.10820	CTG		0.577	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1	0			19:46178073
PLEC	5339	broad.mit.edu	37	8	144996470	144996470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:144996470G>A	ENST00000322810.4	-	32	8099	c.7930C>T	c.(7930-7932)Cgc>Tgc	p.R2644C	PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2644	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGAAGCGCTCCCGCTGT	0.627																																						ENST00000322810.4		NA																	0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7930-7932)Cgc>Tgc		plectin							20.0	22.0	21.0					8																	144996470		2164	4254	6418	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996470G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7930C>T	8.37:g.144996470G>A	ENSP00000323856:p.Arg2644Cys	False	False		Somatic	0				PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C	p.R2644C	NM_201380.2	NP_958782.1	WXS	Illumina HiSeq	Phase_I	Q15149	PLEC_HUMAN			32	8099	-			2644			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7930C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.349012	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78595	-1.16;-1.16;-1.19;-1.19;-1.17;-1.16;-1.15;-1.16;-1.16	4.38	4.38	0.52667	.	0.100263	0.38720	U	0.001592	T	0.68979	0.3060	L	0.40543	1.245	0.50039	D	0.999843	D;D;D;D;D;D;D;D	0.60160	0.987;0.987;0.987;0.978;0.987;0.987;0.987;0.987	B;B;B;B;B;B;B;B	0.42882	0.401;0.401;0.401;0.226;0.401;0.401;0.401;0.401	T	0.73697	-0.3901	10	0.87932	D	0	.	10.1728	0.42920	0.0:0.0:0.6587:0.3413	.	2534;2493;2485;2644;2475;2507;2511;2507	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2507;2511;2507;2475;2644;2485;2493;2534;2530	ENSP00000344848:R2507C;ENSP00000350277:R2511C;ENSP00000346602:R2507C;ENSP00000381756:R2475C;ENSP00000323856:R2644C;ENSP00000347044:R2485C;ENSP00000348702:R2493C;ENSP00000388180:R2534C;ENSP00000434583:R2530C	ENSP00000323856:R2644C	R	-	1	0	PLEC	145068458	0.964000	0.33143	0.950000	0.38849	0.712000	0.41017	2.523000	0.45580	2.289000	0.77006	0.443000	0.29094	CGC		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	NM_000445		8:144996470
TTN	7273	broad.mit.edu	37	2	179430536	179430536	+	Missense_Mutation	SNP	C	C	T	rs370589806		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:179430536C>T	ENST00000591111.1	-	276	75624	c.75400G>A	c.(75400-75402)Gtg>Atg	p.V25134M	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V26775M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25134	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGCTTTCACGGCATCAACA	0.448																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80323-80325)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3993		0,1,1996	213.0	203.0	206.0		53128,72619,53503,53704	4.9	1.0	2		206	0,8366		0,0,4183	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,1,6179	TT,TC,CC		0.0,0.025,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging	17710/26927,24207/33424,17835/27052,17902/27119	179430536	1,12359	1997	4183	6180	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430536C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75400G>A	2.37:g.179430536C>T	ENSP00000465570:p.Val25134Met	False	False		Somatic	0				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN_ENST00000591111.1_Missense_Mutation_p.V25134M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.V26775M	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80547	-			25134			Ig-like 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80323G>A		.	.	.	.	.	.	.	.	.	.	C	10.61	1.399923	0.25291	2.5E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.81	4.92	0.64577	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64170	0.2574	M	0.85197	2.74	0.35338	D	0.786241	D;D;D;D	0.67145	0.996;0.996;0.996;0.979	P;P;P;B	0.51324	0.666;0.666;0.666;0.397	T	0.77003	-0.2749	9	0.87932	D	0	.	8.7455	0.34583	0.1243:0.7408:0.0:0.1349	.	17710;17835;17902;25134	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	24207;17710;17902;17835;17708	ENSP00000343764:V24207M;ENSP00000434586:V17710M;ENSP00000340554:V17902M;ENSP00000352154:V17835M	ENSP00000340554:V17902M	V	-	1	0	TTN	179138782	0.982000	0.34865	0.987000	0.45799	0.977000	0.68977	2.631000	0.46502	1.436000	0.47453	0.555000	0.69702	GTG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179430536
FLT4	2324	broad.mit.edu	37	5	180056983	180056983	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:180056983G>T	ENST00000261937.6	-	5	714	c.636C>A	c.(634-636)gaC>gaA	p.D212E	FLT4_ENST00000502649.1_Missense_Mutation_p.D212E|FLT4_ENST00000393347.3_Missense_Mutation_p.D212E|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	212	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGAAGTCCTGGTCTCCCCAGG	0.637																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(634-636)gaC>gaA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						92.0	79.0	83.0					5																	180056983		2201	4297	6498	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056983G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.636C>A	5.37:g.180056983G>T	ENSP00000261937:p.Asp212Glu	False	False		Somatic	0				FLT4_ENST00000393347.3_Missense_Mutation_p.D212E|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D212E	p.D212E	NM_182925.4	NP_891555.2	WXS	Illumina HiSeq	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	714	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	212			Ig-like C2-type 2.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.636C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047952	0.36085	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04654	3.58;3.58;3.58	5.06	4.17	0.49024	Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03783	0.0107	L	0.34521	1.04	0.28658	N	0.906316	B;P;B;B	0.35033	0.349;0.481;0.003;0.003	B;B;B;B	0.33454	0.05;0.164;0.004;0.004	T	0.27262	-1.0079	9	0.30078	T	0.28	.	3.8203	0.08833	0.09:0.1755:0.576:0.1585	.	212;212;212;212	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	E	212;212;212;22	ENSP00000261937:D212E;ENSP00000377016:D212E;ENSP00000426057:D212E	ENSP00000261937:D212E	D	-	3	2	FLT4	179989589	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	2.115000	0.41921	2.517000	0.84864	0.561000	0.74099	GAC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	0			5:180056983
PES1	23481	broad.mit.edu	37	22	30976129	30976129	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:30976129C>G	ENST00000405677.1	-	13	1606	c.663G>C	c.(661-663)ttG>ttC	p.L221F	PES1_ENST00000402281.1_Missense_Mutation_p.L221F|PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000354694.7_Missense_Mutation_p.L360F|PES1_ENST00000402284.3_Missense_Mutation_p.L343F	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCCCAATGCACAAAGATTTGT	0.577																																						ENST00000402281.1		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(661-663)ttG>ttC		pescadillo ribosomal biogenesis factor 1							144.0	135.0	138.0					22																	30976129		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976129C>G	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.663G>C	22.37:g.30976129C>G	ENSP00000385654:p.Leu221Phe	True	False		Somatic	0				PES1_ENST00000402284.3_Missense_Mutation_p.L343F|PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000405677.1_Missense_Mutation_p.L221F|PES1_ENST00000354694.7_Missense_Mutation_p.L360F	p.L221F	NM_001282327.1	NP_001269256.1	WXS	Illumina HiSeq	Phase_I	O00541	PESC_HUMAN			13	1654	-			360			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.663G>C		.	.	.	.	.	.	.	.	.	.	C	14.69	2.611636	0.46631	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.28	4.26	0.50523	BRCT (4);	0.482992	0.20082	N	0.099631	T	0.34658	0.0905	L	0.42529	1.33	0.80722	D	1	D;B;D;D	0.57571	0.973;0.197;0.98;0.973	P;B;P;P	0.52159	0.691;0.141;0.663;0.691	T	0.05937	-1.0855	10	0.49607	T	0.09	-4.9277	8.9919	0.36028	0.0:0.657:0.2658:0.0773	.	360;343;355;360	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	F	360;221;221;343;355	ENSP00000346725:L360F;ENSP00000384366:L221F;ENSP00000385654:L221F;ENSP00000384252:L343F;ENSP00000334612:L355F	ENSP00000334612:L355F	L	-	3	2	PES1	29306129	0.943000	0.32029	1.000000	0.80357	0.915000	0.54546	0.079000	0.14782	1.226000	0.43582	-0.150000	0.13652	TTG		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	0	NM_014303		22:30976129
RYR3	6263	broad.mit.edu	37	15	33795853	33795853	+	Missense_Mutation	SNP	G	G	A	rs572913737		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:33795853G>A	ENST00000389232.4	+	3	263	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	65					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)			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)		AGATCTCTGCGTCTGCAATTT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20468	0.0		0.0	False		,,,				2504	0.001					ENST00000389232.4		NA																	0				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.(193-195)Gtc>Atc		ryanodine receptor 3							56.0	57.0	57.0					15																	33795853		1941	4151	6092	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33795853G>A		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.193G>A	15.37:g.33795853G>A	ENSP00000373884:p.Val65Ile	False	False		Somatic	0				RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	p.V65I	NM_001036.3	NP_001027.3	WXS	Illumina HiSeq	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	3	263	+		all_lung(180;7.18e-09)	65					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.193G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	8.783	0.928601	0.18131	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98164	-4.76;-4.76	5.36	3.36	0.38483	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.069726	0.56097	D	0.000033	D	0.87811	0.6271	N	0.00436	-1.5	0.32828	D	0.503591	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	D	0.85323	0.1085	10	0.22706	T	0.39	.	5.095	0.14729	0.3515:0.0:0.6485:0.0	.	65;65	Q15413-2;Q15413	.;RYR3_HUMAN	I	65	ENSP00000373884:V65I;ENSP00000399610:V65I	ENSP00000354735:V65I	V	+	1	0	RYR3	31583145	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	2.728000	0.47319	1.479000	0.48272	0.655000	0.94253	GTC		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0			15:33795853
GPR162	27239	broad.mit.edu	37	12	6933844	6933844	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:6933844G>A	ENST00000311268.3	+	2	1567	c.780G>A	c.(778-780)tcG>tcA	p.S260S	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGATGGCTCGGAGTCTGCCA	0.622																																						ENST00000311268.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(778-780)tcG>tcA		G protein-coupled receptor 162							54.0	55.0	54.0					12																	6933844		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933844G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.780G>A	12.37:g.6933844G>A		False	False		Somatic	0				GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	p.S260S	NM_019858.1	NP_062832.1	WXS	Illumina HiSeq	Phase_I	Q16538	GP162_HUMAN			2	1567	+			260					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.780G>A	CCDS8563.1																																																																																				0.622	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	0	NM_019858		12:6933844
CEL	1056	broad.mit.edu	37	9	135940495	135940495	+	Missense_Mutation	SNP	G	G	A	rs562551668		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:135940495G>A	ENST00000372080.4	+	4	434	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CEL_ENST00000351304.7_Missense_Mutation_p.A137T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	137					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGCCATGGGGCCAACTTCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17461	0.0		0.0	False		,,,				2504	0.001					ENST00000372080.4		NA																	0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(418-420)Gcc>Acc		carboxyl ester lipase							143.0	155.0	151.0					9																	135940495		2050	4179	6229	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940495G>A	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.418G>A	9.37:g.135940495G>A	ENSP00000361151:p.Ala140Thr	True	False		Somatic	0				CEL_ENST00000351304.7_Missense_Mutation_p.A137T	p.A140T	NM_001807.3	NP_001798.2	WXS	Illumina HiSeq	Phase_I	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	4	434	+			137					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.418G>A	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166069	0.57476	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72725	-0.47;-0.68	5.16	4.25	0.50352	Carboxylesterase, type B (1);	0.202192	0.51477	D	0.000085	T	0.67144	0.2862	L	0.46741	1.465	0.58432	D	0.999992	P	0.47350	0.894	P	0.44597	0.454	T	0.67937	-0.5541	10	0.45353	T	0.12	.	13.986	0.64337	0.0:0.0:0.8473:0.1527	.	137	P19835	CEL_HUMAN	T	140;137;140	ENSP00000361151:A140T;ENSP00000342217:A137T	ENSP00000304021:A140T	A	+	1	0	CEL	134930316	1.000000	0.71417	0.676000	0.29932	0.366000	0.29705	4.416000	0.59815	1.130000	0.42092	0.561000	0.74099	GCC		0.612	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1	0			9:135940495
SLCO1B3	28234	broad.mit.edu	37	12	21015401	21015401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:21015401G>A	ENST00000381545.3	+	7	756	c.537G>A	c.(535-537)atG>atA	p.M179I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	179					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGGGGAATATGCTTCGTGGCA	0.378																																						ENST00000381545.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(535-537)atG>atA		solute carrier organic anion transporter family, member 1B3							178.0	174.0	175.0					12																	21015401		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015401G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.537G>A	12.37:g.21015401G>A	ENSP00000370956:p.Met179Ile	False	False		Somatic	0				LST3_ENST00000540229.1_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I	p.M179I	NM_019844.3	NP_062818.1	WXS	Illumina HiSeq	Phase_I	Q9NPD5	SO1B3_HUMAN			7	756	+	Esophageal squamous(101;0.149)		179					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.537G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114546	0.06881	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.79141	0.46;0.46;0.46;0.46;-1.24;0.46	3.9	2.92	0.33932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.346611	0.35124	N	0.003433	T	0.52964	0.1767	N	0.11000	0.08	0.80722	D	1	B;B;B	0.28933	0.228;0.007;0.007	B;B;B	0.30316	0.114;0.028;0.028	T	0.44205	-0.9343	10	0.17832	T	0.49	.	5.0501	0.14503	0.0946:0.1553:0.6118:0.1383	.	179;179;179	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	179;179;179;179;3;179	ENSP00000442000:M179I;ENSP00000261196:M179I;ENSP00000370956:M179I;ENSP00000451758:M179I;ENSP00000443225:M3I;ENSP00000441269:M179I	ENSP00000441269:M179I	M	+	3	0	SLCO1B3;RP11-545J16.1	20906668	0.979000	0.34478	1.000000	0.80357	0.081000	0.17604	0.414000	0.21164	1.732000	0.51606	0.460000	0.39030	ATG		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	0	NM_019844		12:21015401
GLB1L	79411	broad.mit.edu	37	2	220104663	220104663	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:220104663T>G	ENST00000295759.7	-	7	1013	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000409640.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	234					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACAGTGGTATAGAGTCCC	0.527																																						ENST00000295759.7		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(700-702)Acc>Ccc		galactosidase, beta 1-like							104.0	114.0	110.0					2																	220104663		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220104663T>G		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.700A>C	2.37:g.220104663T>G	ENSP00000295759:p.Thr234Pro	False	False		Somatic	0				GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron	p.T234P			WXS	Illumina HiSeq	Phase_I	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1013	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	234					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.700A>C	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304575	0.60305	.	.	ENSG00000163521	ENST00000295759;ENST00000392089	D;D	0.97924	-4.61;-4.61	5.37	1.38	0.22167	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.331520	0.36034	N	0.002831	D	0.92169	0.7517	N	0.15975	0.35	0.80722	D	1	B	0.23185	0.081	B	0.28991	0.097	D	0.84745	0.0753	10	0.33940	T	0.23	-4.5903	5.7925	0.18369	0.127:0.2293:0.0:0.6437	.	234	Q6UWU2	GLB1L_HUMAN	P	234	ENSP00000295759:T234P;ENSP00000375939:T234P	ENSP00000295759:T234P	T	-	1	0	GLB1L	219812907	0.814000	0.29104	0.987000	0.45799	0.988000	0.76386	1.378000	0.34328	0.461000	0.27071	0.528000	0.53228	ACC		0.527	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	0	NM_024506		2:220104663
TNFRSF21	27242	broad.mit.edu	37	6	47253929	47253929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:47253929G>A	ENST00000296861.2	-	2	892	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	167					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCTTACACCGCACATCCTCA	0.542																																						ENST00000296861.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(499-501)Cgg>Tgg		tumor necrosis factor receptor superfamily, member 21							313.0	226.0	255.0					6																	47253929		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253929G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.499C>T	6.37:g.47253929G>A	ENSP00000296861:p.Arg167Trp	False	False		Somatic	0					p.R167W	NM_014452.3	NP_055267.1	WXS	Illumina HiSeq	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		2	892	-			167					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.499C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668949	0.67814	.	.	ENSG00000146072	ENST00000296861	T	0.61742	0.08	5.54	4.61	0.57282	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.164121	0.49305	D	0.000156	T	0.65154	0.2664	M	0.72894	2.215	0.47214	D	0.999353	D	0.89917	1.0	P	0.62649	0.905	T	0.68108	-0.5496	10	0.72032	D	0.01	.	12.0809	0.53669	0.0:0.0:0.6729:0.327	.	167	O75509	TNR21_HUMAN	W	167	ENSP00000296861:R167W	ENSP00000296861:R167W	R	-	1	2	TNFRSF21	47361888	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.334000	0.43920	2.767000	0.95098	0.591000	0.81541	CGG		0.542	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	0	NM_014452		6:47253929
TRGC2	6967	broad.mit.edu	37	7	38288863	38288863	+	RNA	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:38288863G>T	ENST00000436911.2	-	0	310							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTGGAGGAAAGATAATTTCTT	0.343																																						ENST00000436911.2		NA																	0					NA															154.0	134.0	140.0					7																	38288863		1870	4094	5964			0							g.chr7:38288863G>T	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38288863G>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	310	-			NA						RNA	SNP	ENST00000436911.2	37																																																																																						0.343	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	0	NG_001336		7:38288863
